Variant report

Variant	rs6957724
Chromosome Location	chr7:150788304-150788305
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:82461936..82464906-chr7:150787097..150789096,2	MCF-7	breast:
2	chr7:150757994..150758749-chr7:150788239..150789227,2	K562	blood:
3	chr7:150788232..150789119-chr7:150869345..150870245,2	K562	blood:
4	chr7:150788184..150788855-chr7:150807817..150808798,5	MCF-7	breast:
5	chr7:150788167..150789084-chr7:150808052..150808593,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164889	Chromatin interaction
ENSG00000112773	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10085680	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10244332	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.90[TSI][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10273337	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1036061	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1036062	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1077122	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10952301	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10952302	0.84[CEU][hapmap];1.00[CHB][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap]
rs11766855	1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs11769150	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap]
rs12703112	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs13240966	0.87[ASN][1000 genomes]
rs13246833	0.87[ASN][1000 genomes]
rs34104727	1.00[ASN][1000 genomes]
rs34308016	1.00[ASN][1000 genomes]
rs4236428	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4725389	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.96[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4725988	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4725989	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4725992	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4725993	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62490310	0.82[EUR][1000 genomes]
rs62490311	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6464129	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6945607	0.86[EUR][1000 genomes]
rs6951528	0.88[GIH][hapmap]
rs6970547	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6970773	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7385751	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs749320	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7806979	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs891510	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
2	nsv889465	chr7:150640285-150800823	Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv1028645	chr7:150643928-150806534	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
4	nsv539198	chr7:150643928-150879259	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
5	nsv889476	chr7:150729212-150951819	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	120 gene(s)	inside rSNPs	diseases
6	nsv1031733	chr7:150730999-150790517	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
7	nsv889477	chr7:150731698-150837529	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
8	nsv889478	chr7:150732812-150889527	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
9	nsv831188	chr7:150735204-150912875	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
10	nsv889480	chr7:150736382-150797581	Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
11	nsv1028023	chr7:150738624-150790517	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
12	nsv465214	chr7:150751590-150822192	Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
13	nsv609012	chr7:150751590-150822192	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
14	nsv609013	chr7:150751590-150832913	Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
15	nsv465215	chr7:150762871-150825087	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
16	nsv609014	chr7:150762871-150825087	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
17	nsv889481	chr7:150766799-150837529	Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
18	nsv889482	chr7:150766799-150851566	Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
19	nsv889485	chr7:150774308-150788304	Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	27 gene(s)	inside rSNPs	diseases
20	nsv889486	chr7:150775306-150891641	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6957724	SMARCD3	cis	cerebellum	SCAN

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150785000-150788600	Weak transcription	Small Intestine	intestine
2	chr7:150785000-150812000	Weak transcription	Aorta	Aorta
3	chr7:150785800-150789600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:150786200-150789000	Enhancers	Placenta	Placenta
5	chr7:150786400-150808400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr7:150786600-150788800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr7:150786600-150792600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr7:150786800-150788400	Enhancers	Right Atrium	heart
9	chr7:150786800-150788800	Enhancers	Fetal Intestine Large	intestine
10	chr7:150786800-150789000	Enhancers	Liver	Liver
11	chr7:150786800-150789200	Genic enhancers	Fetal Stomach	stomach
12	chr7:150786800-150789600	Genic enhancers	Fetal Muscle Trunk	muscle
13	chr7:150786800-150789800	Enhancers	Brain Angular Gyrus	brain
14	chr7:150786800-150789800	Enhancers	Fetal Brain Male	brain
15	chr7:150786800-150799000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr7:150787000-150788800	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr7:150787000-150789200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:150787000-150789200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:150787000-150789200	Enhancers	Colonic Mucosa	Colon
20	chr7:150787000-150789400	Enhancers	Pancreas	Pancrea
21	chr7:150787000-150791400	Strong transcription	Hela-S3	cervix
22	chr7:150787000-150791600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr7:150787000-150796600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr7:150787000-150799400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr7:150787200-150788400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr7:150787200-150788400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr7:150787200-150788400	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr7:150787200-150788400	Weak transcription	Gastric	stomach
29	chr7:150787200-150788400	Weak transcription	Osteobl	bone
30	chr7:150787200-150788600	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr7:150787200-150788600	Enhancers	Brain Cingulate Gyrus	brain
32	chr7:150787200-150788600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr7:150787200-150788600	Weak transcription	Left Ventricle	heart
34	chr7:150787200-150788600	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr7:150787200-150788600	Enhancers	Rectal Smooth Muscle	rectum
36	chr7:150787200-150788600	Genic enhancers	HepG2	liver
37	chr7:150787200-150788800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr7:150787200-150788800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr7:150787200-150788800	Enhancers	Duodenum Mucosa	Duodenum
40	chr7:150787200-150788800	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr7:150787200-150788800	Weak transcription	Spleen	Spleen
42	chr7:150787200-150788800	Enhancers	HUVEC	blood vessel
43	chr7:150787200-150789000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr7:150787200-150789000	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr7:150787200-150789000	Enhancers	GM12878-XiMat	blood
46	chr7:150787200-150789200	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr7:150787200-150789400	Enhancers	Brain Anterior Caudate	brain
48	chr7:150787200-150789600	Genic enhancers	Fetal Muscle Leg	muscle
49	chr7:150787200-150790000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr7:150787200-150790000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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