Variant report

Variant	rs57071951
Chromosome Location	chr12:124174957-124174958
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:124173898..124176239-chr12:124177848..124179680,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168778	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs1060638	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11572914	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11572916	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11572919	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11572921	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11572928	1.00[ASN][1000 genomes]
rs11572929	1.00[ASN][1000 genomes]
rs11572931	1.00[ASN][1000 genomes]
rs11572961	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11572965	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11572970	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11572992	1.00[ASN][1000 genomes]
rs11573002	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11573003	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11573005	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11831129	1.00[ASN][1000 genomes]
rs1568031	1.00[ASN][1000 genomes]
rs1913847	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28627432	1.00[ASN][1000 genomes]
rs28668364	1.00[ASN][1000 genomes]
rs28743126	1.00[ASN][1000 genomes]
rs35917561	1.00[ASN][1000 genomes]
rs4930715	1.00[ASN][1000 genomes]
rs56816130	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58028686	1.00[ASN][1000 genomes]
rs58507743	1.00[ASN][1000 genomes]
rs58680194	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58831452	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58904890	1.00[ASN][1000 genomes]
rs59279556	1.00[ASN][1000 genomes]
rs59827616	1.00[ASN][1000 genomes]
rs60422010	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60577371	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61082817	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6488885	1.00[ASN][1000 genomes]
rs6488889	1.00[ASN][1000 genomes]
rs7134190	1.00[ASN][1000 genomes]
rs7316613	1.00[ASN][1000 genomes]
rs73414295	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73416203	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73416204	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73416211	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73416216	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73416277	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73416283	1.00[ASN][1000 genomes]
rs73416288	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73416298	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73416299	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73416301	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73418103	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73418104	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73418114	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73418125	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73418139	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73418148	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73418153	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73418159	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73418167	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73418174	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73418179	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73418191	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73420303	1.00[ASN][1000 genomes]
rs73420351	1.00[ASN][1000 genomes]
rs73420355	1.00[ASN][1000 genomes]
rs73420358	1.00[ASN][1000 genomes]
rs73420368	1.00[ASN][1000 genomes]
rs7965466	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050598	chr12:123991646-124214332	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv541623	chr12:123991646-124214332	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv498024	chr12:123994372-124459856	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	esv2757517	chr12:124110122-124195856	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	esv2759918	chr12:124110122-124195856	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
6	nsv1041918	chr12:124115035-124184855	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
7	nsv1042866	chr12:124115035-124195856	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
8	nsv442292	chr12:124115047-124195854	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
9	esv35148	chr12:124119120-124196120	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	esv2756516	chr12:124119120-124196120	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
11	nsv524660	chr12:124119983-124194438	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
12	nsv455733	chr12:124119983-124195856	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
13	nsv560496	chr12:124119983-124195856	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
14	nsv1055052	chr12:124127003-124176120	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
15	nsv1044734	chr12:124127003-124179417	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
16	nsv560497	chr12:124129460-124195856	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
17	nsv560498	chr12:124129924-124195856	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
18	nsv832534	chr12:124157605-124234611	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
19	nsv519344	chr12:124171903-124194438	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124156200-124182000	Weak transcription	Small Intestine	intestine
2	chr12:124156400-124196000	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr12:124156400-124196000	Weak transcription	Thymus	Thymus
4	chr12:124156600-124175800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:124156600-124176000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:124156600-124180600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr12:124156600-124189800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr12:124156600-124195600	Weak transcription	Esophagus	oesophagus
9	chr12:124156600-124195800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr12:124156600-124195800	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr12:124156600-124196000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr12:124156600-124196000	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr12:124156600-124196000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr12:124156600-124196000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr12:124156800-124175200	Weak transcription	HMEC	breast
16	chr12:124156800-124175800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr12:124156800-124177000	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr12:124156800-124177000	Weak transcription	Hela-S3	cervix
19	chr12:124156800-124180200	Weak transcription	Stomach Mucosa	stomach
20	chr12:124156800-124181000	Weak transcription	Primary B cells from peripheral blood	blood
21	chr12:124156800-124181000	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr12:124156800-124184000	Weak transcription	HepG2	liver
23	chr12:124156800-124186600	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr12:124156800-124196000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr12:124156800-124196000	Weak transcription	HUVEC	blood vessel
26	chr12:124156800-124196200	Weak transcription	HSMM	muscle
27	chr12:124157000-124193000	Strong transcription	Fetal Stomach	stomach
28	chr12:124157000-124196000	Weak transcription	Fetal Heart	heart
29	chr12:124157000-124196000	Weak transcription	NH-A	brain
30	chr12:124158200-124176400	Strong transcription	Fetal Muscle Trunk	muscle
31	chr12:124158400-124193800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr12:124159800-124183800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr12:124160000-124181400	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr12:124160000-124184400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr12:124160000-124195600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr12:124160200-124175400	Weak transcription	Brain Angular Gyrus	brain
37	chr12:124160200-124180600	Weak transcription	Fetal Kidney	kidney
38	chr12:124160200-124191000	Weak transcription	Colonic Mucosa	Colon
39	chr12:124160200-124195800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr12:124160200-124196000	Weak transcription	Right Ventricle	heart
41	chr12:124160400-124181000	Weak transcription	NHDF-Ad	bronchial
42	chr12:124160800-124181000	Weak transcription	Primary T cells from cord blood	blood
43	chr12:124160800-124182800	Weak transcription	Dnd41	blood
44	chr12:124161600-124196000	Weak transcription	Duodenum Mucosa	Duodenum
45	chr12:124161800-124175600	Weak transcription	Gastric	stomach
46	chr12:124161800-124180800	Weak transcription	Fetal Brain Male	brain
47	chr12:124161800-124183000	Weak transcription	Placenta	Placenta
48	chr12:124161800-124195800	Weak transcription	Rectal Smooth Muscle	rectum
49	chr12:124162000-124175800	Weak transcription	Osteobl	bone
50	chr12:124164000-124179000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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