Variant report

Variant	rs12133636
Chromosome Location	chr1:212528869-212528870
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr1:212528609-212529011	SK-N-SH	brain:	n/a	n/a
2	EP300	chr1:212528676-212528968	SK-N-SH_RA	brain:	n/a	n/a
3	GATA3	chr1:212528576-212529072	SK-N-SH	brain:	n/a	n/a
4	EP300	chr1:212528675-212528960	SK-N-SH_RA	brain:	n/a	n/a
5	PBX3	chr1:212528591-212529012	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr1:212528656-212528955	SK-N-SH	brain:	n/a	n/a
7	NFIC	chr1:212528417-212528973	SK-N-SH	brain:	n/a	n/a
8	GATA3	chr1:212528456-212529208	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr1:212528710-212529130	K562	blood:	n/a	n/a
10	PBX3	chr1:212528581-212529023	SK-N-SH	brain:	n/a	n/a
11	TCF12	chr1:212528479-212529090	SK-N-SH	brain:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:212526274..212530393-chr1:212532499..212537435,6	K562	blood:
2	chr1:212528811..212530393-chr1:212534364..212536971,2	K562	blood:
3	chr1:212519088..212521774-chr1:212528493..212530419,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000229832	TF binding region

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs1011232	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs1056985	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10863965	0.95[CHB][hapmap]
rs11119890	1.00[CEU][hapmap]
rs11119903	0.81[ASN][1000 genomes]
rs11119907	0.87[ASN][1000 genomes]
rs11119908	0.88[ASN][1000 genomes]
rs11119910	0.88[ASN][1000 genomes]
rs11119918	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11119921	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11119927	0.90[ASN][1000 genomes]
rs11119928	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11119932	0.95[CHB][hapmap]
rs11119934	0.95[CHB][hapmap]
rs12024457	1.00[CEU][hapmap]
rs12031941	0.83[ASN][1000 genomes]
rs12033979	0.80[ASN][1000 genomes]
rs12116770	1.00[AFR][1000 genomes]
rs12118709	0.97[ASN][1000 genomes]
rs12118732	0.84[ASN][1000 genomes]
rs12119183	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs12119779	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs12124582	0.85[ASN][1000 genomes]
rs12127954	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs12128123	0.97[ASN][1000 genomes]
rs12128965	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs12129267	0.88[ASN][1000 genomes]
rs12133134	1.00[CEU][hapmap]
rs12133582	0.95[CHB][hapmap]
rs12134074	0.84[ASN][1000 genomes]
rs12134276	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs12134599	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12136095	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs12137798	0.86[ASN][1000 genomes]
rs12138533	1.00[ASN][1000 genomes]
rs12140158	0.96[ASN][1000 genomes]
rs12141427	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs12143853	0.89[ASN][1000 genomes]
rs12145170	0.99[ASN][1000 genomes]
rs12145484	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs12239580	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs12403586	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs12561785	0.89[ASN][1000 genomes]
rs12562618	0.84[ASN][1000 genomes]
rs1342152	1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs14123	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[ASN][1000 genomes]
rs1493601	0.84[ASN][1000 genomes]
rs17019129	1.00[CEU][hapmap]
rs1808986	0.90[ASN][1000 genomes]
rs2166155	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs2236598	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2298115	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs3754142	1.00[CEU][hapmap];0.83[CHB][hapmap]
rs3754144	0.95[CHB][hapmap]
rs3767867	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs3767868	0.95[CHB][hapmap]
rs3767870	1.00[CEU][hapmap]
rs3820513	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs4548507	0.90[ASN][1000 genomes]
rs4951597	0.95[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	nsv997629	chr1:212404489-212658785	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv535286	chr1:212404489-212658785	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212489600-212554800	Weak transcription	Small Intestine	intestine
2	chr1:212493800-212533400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr1:212500000-212540400	Weak transcription	Stomach Mucosa	stomach
4	chr1:212501000-212533600	Weak transcription	Fetal Heart	heart
5	chr1:212501400-212540800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:212501800-212540800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr1:212502600-212563400	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr1:212502600-212564600	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr1:212502800-212541400	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr1:212504000-212548600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr1:212504400-212537600	Weak transcription	Psoas Muscle	Psoas
12	chr1:212505200-212531400	Weak transcription	HMEC	breast
13	chr1:212505800-212533200	Weak transcription	NH-A	brain
14	chr1:212508200-212545800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr1:212508600-212541000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:212511400-212540800	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr1:212513200-212541000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:212513800-212540800	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr1:212514400-212540400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:212514600-212537600	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr1:212514800-212541800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr1:212515200-212536400	Strong transcription	Liver	Liver
23	chr1:212518400-212531200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr1:212522600-212529600	Weak transcription	NHDF-Ad	bronchial
25	chr1:212523600-212550600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr1:212524000-212541800	Strong transcription	Fetal Thymus	thymus
27	chr1:212524400-212554600	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr1:212524600-212530800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr1:212525000-212541600	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr1:212525400-212536600	Strong transcription	Primary B cells from cord blood	blood
31	chr1:212525600-212541800	Strong transcription	Primary B cells from peripheral blood	blood
32	chr1:212525600-212545600	Strong transcription	Primary T cells from cord blood	blood
33	chr1:212526400-212531400	Weak transcription	NHEK	skin
34	chr1:212526600-212529600	Weak transcription	Primary hematopoietic stem cells	blood
35	chr1:212526600-212530000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr1:212526600-212530200	Weak transcription	Hela-S3	cervix
37	chr1:212526600-212532600	Weak transcription	Brain Cingulate Gyrus	brain
38	chr1:212526600-212535000	Weak transcription	Fetal Brain Female	brain
39	chr1:212526600-212540600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr1:212526600-212540800	Weak transcription	Right Ventricle	heart
41	chr1:212526800-212529400	Weak transcription	HUVEC	blood vessel
42	chr1:212526800-212529600	Weak transcription	Brain Anterior Caudate	brain
43	chr1:212526800-212529800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr1:212526800-212529800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr1:212526800-212529800	Weak transcription	Esophagus	oesophagus
46	chr1:212526800-212530000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr1:212526800-212530000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr1:212526800-212530000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr1:212526800-212530000	Weak transcription	Colon Smooth Muscle	Colon
50	chr1:212526800-212531000	Weak transcription	Gastric	stomach

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