Variant report

Variant	rs3213571
Chromosome Location	chr12:121204368-121204369
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121202024..121204515-chr12:121206771..121210558,3	K562	blood:
2	chr12:121203090..121205836-chr12:121209356..121211928,2	MCF-7	breast:
3	chr12:121199470..121201795-chr12:121202855..121205373,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000157837	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1027556	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1039302	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10431387	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10437838	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10744754	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10774568	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10774569	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10774570	1.00[CEU][hapmap]
rs10774571	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10849782	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10849783	0.85[EUR][1000 genomes]
rs10849786	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10849787	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849788	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10849790	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10849793	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs10849794	1.00[CEU][hapmap]
rs10849800	0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10849805	0.88[CEU][hapmap]
rs10849810	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10849811	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10849814	1.00[CEU][hapmap]
rs11065259	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11065266	0.91[EUR][1000 genomes]
rs11065272	0.81[ASN][1000 genomes]
rs11065298	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap]
rs11065322	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1151849	0.86[YRI][hapmap]
rs1151862	0.85[YRI][hapmap]
rs11829904	0.83[YRI][hapmap]
rs11833706	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13746	0.83[YRI][hapmap]
rs2393718	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2393725	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3213568	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3213569	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs3809314	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4638383	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs471688	0.87[YRI][hapmap]
rs531782	0.93[YRI][hapmap]
rs593429	0.81[ASN][1000 genomes]
rs610694	0.86[YRI][hapmap]
rs624216	0.85[YRI][hapmap]
rs625228	0.93[YRI][hapmap]
rs6489780	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6489781	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs6489782	1.00[CHB][hapmap];0.85[JPT][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs6490303	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7135147	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[ASN][1000 genomes]
rs7135426	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7139145	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs715319	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7298639	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7300695	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73229114	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7960784	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7965332	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7977343	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.81[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	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1041153	chr12:121171986-121208826	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv560438	chr12:121194565-121352206	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv976761	chr12:121202272-121210985	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121195600-121207200	Strong transcription	Brain Germinal Matrix	brain
2	chr12:121196400-121207000	Strong transcription	Fetal Brain Female	brain
3	chr12:121196800-121212800	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr12:121197000-121207200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:121197200-121210000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr12:121197400-121207000	Strong transcription	Pancreas	Pancrea
7	chr12:121197400-121209800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr12:121197400-121212600	Strong transcription	Thymus	Thymus
9	chr12:121197400-121220000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr12:121197600-121204400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr12:121197600-121205400	Strong transcription	GM12878-XiMat	blood
12	chr12:121197600-121207200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:121197600-121210400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:121197800-121209000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr12:121197800-121212400	Strong transcription	Liver	Liver
16	chr12:121197800-121220400	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr12:121198000-121207200	Strong transcription	H9 Cell Line	embryonic stem cell
18	chr12:121198000-121207200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr12:121198000-121212000	Strong transcription	Adipose Nuclei	Adipose
20	chr12:121198200-121205600	Strong transcription	Primary B cells from peripheral blood	blood
21	chr12:121198200-121211400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr12:121198400-121207200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:121198400-121209800	Strong transcription	Dnd41	blood
24	chr12:121198400-121212200	Strong transcription	Primary B cells from cord blood	blood
25	chr12:121198400-121220800	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr12:121198600-121209200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr12:121198800-121207000	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr12:121198800-121209000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr12:121199000-121206800	Strong transcription	Hela-S3	cervix
30	chr12:121199000-121207000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr12:121199000-121207200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr12:121199000-121211600	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr12:121199200-121206600	Strong transcription	NHLF	lung
34	chr12:121199200-121209600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr12:121199400-121207400	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr12:121199400-121207600	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr12:121199600-121204600	Strong transcription	Spleen	Spleen
38	chr12:121199600-121207200	Strong transcription	HSMM	muscle
39	chr12:121199600-121207400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr12:121199800-121207200	Strong transcription	Brain Anterior Caudate	brain
41	chr12:121199800-121211400	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr12:121199800-121211800	Weak transcription	Right Atrium	heart
43	chr12:121200000-121207000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr12:121200000-121207000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
45	chr12:121200200-121204400	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr12:121200200-121205800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr12:121200200-121207200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr12:121200200-121213000	Strong transcription	Fetal Stomach	stomach
49	chr12:121200400-121204800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr12:121200400-121207200	Strong transcription	Stomach Smooth Muscle	stomach

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