Variant report

Variant	rs7960374
Chromosome Location	chr12:11698086-11698087
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10772486	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11054341	0.89[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs12582151	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs17817352	0.86[ASN][1000 genomes]
rs2416791	0.91[ASN][1000 genomes]
rs2416792	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4763703	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4763705	0.91[ASN][1000 genomes]
rs6488425	0.92[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6488426	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6488427	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6488428	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs74060996	0.87[ASN][1000 genomes]
rs7956437	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7967647	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758294	chr12:10969620-11714921	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
2	esv2759879	chr12:10969620-11714921	Genic enhancers Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
3	nsv428272	chr12:11069845-11714921	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
4	nsv469112	chr12:11575570-11711690	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv557573	chr12:11575570-11711690	Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11692400-11698200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
2	chr12:11692800-11698200	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr12:11692800-11698400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr12:11693000-11698200	Enhancers	Primary T cells from cord blood	blood
5	chr12:11693600-11698400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:11693800-11698400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:11694000-11698400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr12:11694000-11698400	Weak transcription	Fetal Lung	lung
9	chr12:11694000-11698400	Weak transcription	Spleen	Spleen
10	chr12:11694000-11698600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:11695800-11698400	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr12:11695800-11698600	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr12:11695800-11700000	Enhancers	Fetal Stomach	stomach
14	chr12:11696200-11698200	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr12:11696200-11698200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr12:11696200-11698200	Enhancers	Fetal Thymus	thymus
17	chr12:11696200-11699800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr12:11696400-11698200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr12:11696400-11698200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr12:11696400-11700200	Enhancers	Primary hematopoietic stem cells	blood
21	chr12:11696600-11698400	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr12:11696800-11698200	Enhancers	Primary T cells fromperipheralblood	blood
23	chr12:11696800-11698200	Enhancers	GM12878-XiMat	blood
24	chr12:11696800-11698400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr12:11696800-11698400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr12:11696800-11699400	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr12:11696800-11699600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr12:11696800-11699800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr12:11697000-11698600	Weak transcription	Fetal Brain Male	brain
30	chr12:11697200-11698200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr12:11697200-11698200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr12:11697200-11698800	Weak transcription	Colon Smooth Muscle	Colon
33	chr12:11697200-11699200	Weak transcription	Brain Anterior Caudate	brain
34	chr12:11697200-11699800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr12:11697200-11699800	Weak transcription	Fetal Intestine Small	intestine
36	chr12:11697400-11698400	Weak transcription	Stomach Smooth Muscle	stomach
37	chr12:11697400-11698400	Enhancers	Thymus	Thymus
38	chr12:11697400-11699400	Flanking Active TSS	Dnd41	blood
39	chr12:11697400-11699800	Enhancers	Primary B cells from peripheral blood	blood
40	chr12:11697400-11708600	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr12:11697600-11698800	Enhancers	Lung	lung
42	chr12:11697600-11699000	Weak transcription	Rectal Smooth Muscle	rectum
43	chr12:11697800-11698200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr12:11697800-11700000	Weak transcription	Esophagus	oesophagus
45	chr12:11698000-11698200	Enhancers	HUVEC	blood vessel
46	chr12:11698000-11698400	Enhancers	Primary B cells from cord blood	blood
47	chr12:11698000-11699600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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