Variant report

Variant	rs10953322
Chromosome Location	chr7:100746658-100746659
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:100743496..100745503-chr7:100745542..100749053,3	K562	blood:
2	chr7:100744207..100746658-chr7:100768104..100769613,2	MCF-7	breast:
3	chr7:100743845..100746782-chr7:100757454..100760117,2	K562	blood:
4	chr7:100744152..100746979-chr7:100806016..100808822,2	K562	blood:
5	chr7:100741837..100746865-chr7:100749791..100753773,5	MCF-7	breast:
6	chr7:100742030..100745253-chr7:100746544..100749068,3	MCF-7	breast:
7	chr7:100744230..100748590-chr7:100780366..100783718,4	K562	blood:
8	chr7:100738210..100739761-chr7:100744164..100746838,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000128564	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10231438	0.80[CHD][hapmap];1.00[JPT][hapmap]
rs10231529	1.00[JPT][hapmap]
rs10953318	1.00[JPT][hapmap]
rs10953321	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.88[YRI][hapmap];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11760747	0.94[EUR][1000 genomes]
rs11761555	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11972491	0.86[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.93[GIH][hapmap];0.91[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11973843	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11980635	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12668231	0.92[CEU][hapmap];0.88[CHB][hapmap];0.95[EUR][1000 genomes]
rs12669411	0.85[CEU][hapmap];0.94[CHB][hapmap];0.81[GIH][hapmap];0.88[MEX][hapmap];0.92[TSI][hapmap];0.88[EUR][1000 genomes]
rs12673732	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13228919	0.80[TSI][hapmap]
rs4571672	0.80[TSI][hapmap]
rs57569772	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66492618	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67321422	0.99[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67520893	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67568738	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67947224	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73178512	0.81[EUR][1000 genomes]
rs73178519	0.83[EUR][1000 genomes]
rs73404898	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9792109	0.83[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1832517	chr7:100355490-100749246	Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv2758125	chr7:100355490-100749246	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	esv2759547	chr7:100355490-100749246	Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
4	esv1826021	chr7:100525848-100749246	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	esv1846644	chr7:100525848-100749246	Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	esv1822460	chr7:100606044-100749246	Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv427796	chr7:100606044-100749246	Strong transcription Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	nsv428181	chr7:100606044-100749246	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	nsv1031942	chr7:100606734-100788660	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
10	esv1833777	chr7:100632790-100800131	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
11	nsv1033081	chr7:100669629-100771824	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription 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 miRNA target site	32 gene(s)	inside rSNPs	diseases
12	nsv831075	chr7:100692297-100917018	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
13	nsv933653	chr7:100701931-101515782	Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
14	nsv1030604	chr7:100717732-101223465	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
15	nsv464649	chr7:100739682-100810983	Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
16	nsv607972	chr7:100739682-100810983	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
17	esv2422376	chr7:100743485-101016471	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS 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	63 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10953322	GATS	cis	parietal	SCAN

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100733600-100755400	Weak transcription	Aorta	Aorta
2	chr7:100741600-100748600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr7:100742400-100749200	Enhancers	Placenta	Placenta
4	chr7:100744000-100746800	Weak transcription	Small Intestine	intestine
5	chr7:100744000-100748200	Weak transcription	Gastric	stomach
6	chr7:100744000-100751000	Weak transcription	Esophagus	oesophagus
7	chr7:100744000-100751800	Weak transcription	Left Ventricle	heart
8	chr7:100744200-100747600	Weak transcription	Adipose Nuclei	Adipose
9	chr7:100744200-100747600	Weak transcription	Spleen	Spleen
10	chr7:100744200-100748400	Weak transcription	Right Atrium	heart
11	chr7:100744200-100751000	Weak transcription	Brain Hippocampus Middle	brain
12	chr7:100744400-100746800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:100744400-100747400	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr7:100744400-100747600	Weak transcription	Right Ventricle	heart
15	chr7:100744400-100751200	Weak transcription	Psoas Muscle	Psoas
16	chr7:100744400-100751600	Weak transcription	Ovary	ovary
17	chr7:100744600-100750800	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr7:100745200-100751600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr7:100745400-100747400	Weak transcription	Osteobl	bone
20	chr7:100745400-100747600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr7:100745400-100748600	Enhancers	A549	lung
22	chr7:100745400-100751600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr7:100745600-100746800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:100745600-100746800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr7:100745600-100746800	Weak transcription	NHLF	lung
26	chr7:100745600-100747000	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr7:100745600-100747000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr7:100745600-100748600	Enhancers	Muscle Satellite Cultured Cells	--
29	chr7:100745600-100751000	Weak transcription	NH-A	brain
30	chr7:100745600-100751800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr7:100745600-100752200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr7:100745800-100746800	Weak transcription	HSMMtube	muscle
33	chr7:100746000-100747000	Enhancers	Duodenum Mucosa	Duodenum
34	chr7:100746000-100747000	Enhancers	Fetal Intestine Large	intestine
35	chr7:100746000-100747000	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr7:100746000-100748400	Enhancers	Stomach Mucosa	stomach
37	chr7:100746000-100748800	Enhancers	Liver	Liver
38	chr7:100746200-100747000	Enhancers	Lung	lung
39	chr7:100746200-100748000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr7:100746200-100748600	Enhancers	K562	blood
41	chr7:100746400-100748400	Enhancers	HSMM	muscle
42	chr7:100746600-100746800	Enhancers	H9 Cell Line	embryonic stem cell
43	chr7:100746600-100746800	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr7:100746600-100746800	Enhancers	HUVEC	blood vessel
45	chr7:100746600-100747000	Enhancers	Colonic Mucosa	Colon
46	chr7:100746600-100747000	Enhancers	Placenta Amnion	Placenta Amnion
47	chr7:100746600-100747000	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr7:100746600-100747000	Flanking Active TSS	Hela-S3	cervix
49	chr7:100746600-100747600	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr7:100746600-100747800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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