Variant report

Variant	rs1666230
Chromosome Location	chr12:32029806-32029807
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 126 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10844040	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1562515	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1562516	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1666198	0.95[JPT][hapmap]
rs1666234	0.83[AFR][1000 genomes]
rs1797758	0.85[ASN][1000 genomes]
rs1797777	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1797792	1.00[JPT][hapmap]
rs1797795	0.95[JPT][hapmap]
rs2799993	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:116 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043010	chr12:31798446-32143151	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv541446	chr12:31798446-32143151	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv3432694	chr12:31801467-32109828	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv558100	chr12:31866833-32185924	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv1045464	chr12:31869888-32183792	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv541447	chr12:31869888-32183792	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	esv3363806	chr12:31872264-32410283	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
8	esv3508621	chr12:31872654-32410593	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
9	esv3508622	chr12:31872654-32410593	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
10	nsv1042631	chr12:31982559-32061988	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv541448	chr12:31989478-32079094	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv1038279	chr12:31991298-32063002	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	esv34737	chr12:31991506-32063002	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	esv35043	chr12:31991506-32063002	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
15	esv34926	chr12:31991506-32063033	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
16	esv2757496	chr12:31991506-32072597	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
17	esv2759891	chr12:31991506-32072597	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
18	esv2751086	chr12:31991533-32074728	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
19	esv2754670	chr12:31991918-32063002	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
20	nsv541449	chr12:31997847-32048783	Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
21	nsv541450	chr12:31997847-32053993	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
22	nsv470282	chr12:31997981-32063002	ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
23	nsv1035837	chr12:31998994-32063002	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
24	esv2751087	chr12:31998994-32063033	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
25	nsv1038688	chr12:31998994-32068170	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
26	nsv1051705	chr12:31998994-32068877	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
27	esv2751088	chr12:31998994-32081433	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
28	nsv1040674	chr12:31999563-32068877	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
29	nsv430498	chr12:31999633-32063033	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
30	nsv1047457	chr12:31999647-32063002	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
31	esv2751089	chr12:31999647-32076736	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
32	nsv8941	chr12:31999692-32063599	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
33	nsv1044484	chr12:31999693-32067890	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
34	nsv469318	chr12:32001515-32063002	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
35	nsv558142	chr12:32001515-32063002	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
36	nsv818905	chr12:32001515-32063002	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
37	nsv516507	chr12:32001515-32068877	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
38	nsv898968	chr12:32001515-32068877	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
39	nsv469319	chr12:32001515-32074398	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
40	nsv558143	chr12:32001515-32074398	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
41	nsv1051514	chr12:32002284-32041169	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
42	nsv1040199	chr12:32002284-32048470	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
43	nsv1044246	chr12:32002284-32053440	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
44	nsv1040366	chr12:32002284-32057963	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
45	nsv1049872	chr12:32002284-32061168	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
46	nsv1048981	chr12:32002284-32061988	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
47	nsv1040134	chr12:32002284-32063002	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
48	nsv1035532	chr12:32002284-32068003	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
49	nsv1049282	chr12:32002284-32068170	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
50	nsv1035759	chr12:32002284-32068877	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1666230	BICD1	cis	cerebellum	SCAN

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32027000-32030200	Enhancers	Primary T cells fromperipheralblood	blood
2	chr12:32027000-32031200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr12:32027400-32030200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr12:32027400-32031200	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr12:32027400-32031600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr12:32027400-32031600	Enhancers	Primary hematopoietic stem cells	blood
7	chr12:32027600-32030200	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr12:32027600-32030400	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr12:32027600-32030800	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr12:32027600-32031200	Enhancers	Fetal Thymus	thymus
11	chr12:32027600-32031400	Enhancers	Primary T cells from cord blood	blood
12	chr12:32027800-32030800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr12:32028200-32030200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr12:32028200-32030600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr12:32028200-32031400	Weak transcription	Psoas Muscle	Psoas
16	chr12:32028200-32031600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr12:32028200-32031800	Weak transcription	Small Intestine	intestine
18	chr12:32028400-32030200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr12:32028400-32030400	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr12:32028400-32030600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr12:32028400-32031600	Enhancers	Dnd41	blood
22	chr12:32028600-32030600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr12:32028600-32030600	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr12:32028600-32030600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr12:32028600-32030600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr12:32028600-32030600	Weak transcription	Thymus	Thymus
27	chr12:32029400-32030200	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr12:32029400-32031000	Enhancers	K562	blood
29	chr12:32029400-32031200	Genic enhancers	Primary B cells from peripheral blood	blood
30	chr12:32029400-32031200	Enhancers	Fetal Muscle Leg	muscle
31	chr12:32029400-32031200	Enhancers	HUVEC	blood vessel
32	chr12:32029400-32031600	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr12:32029600-32030000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr12:32029600-32030000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr12:32029600-32030000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr12:32029600-32030000	Enhancers	Colon Smooth Muscle	Colon
37	chr12:32029600-32030000	Enhancers	Fetal Heart	heart
38	chr12:32029600-32030200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr12:32029600-32030200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr12:32029600-32030600	Enhancers	Placenta	Placenta
41	chr12:32029600-32030800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr12:32029600-32030800	Enhancers	Lung	lung
43	chr12:32029600-32030800	Enhancers	Ovary	ovary
44	chr12:32029600-32030800	Enhancers	Spleen	Spleen
45	chr12:32029600-32031000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr12:32029600-32031400	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr12:32029600-32031400	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr12:32029600-32031600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr12:32029600-32031800	Enhancers	Fetal Kidney	kidney
50	chr12:32029600-32031800	Enhancers	Fetal Stomach	stomach

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