Variant report

Variant	rs67321422
Chromosome Location	chr7:100745790-100745791
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:100742551..100745856-chr7:100780456..100782799,3	MCF-7	breast:
2	chr7:100744401..100746537-chr7:100796518..100798853,2	K562	blood:
3	chr7:100743496..100745503-chr7:100745542..100749053,3	K562	blood:
4	chr7:100744207..100746658-chr7:100768104..100769613,2	MCF-7	breast:
5	chr7:100743845..100746782-chr7:100757454..100760117,2	K562	blood:
6	chr7:100744152..100746979-chr7:100806016..100808822,2	K562	blood:
7	chr7:100741837..100746865-chr7:100749791..100753773,5	MCF-7	breast:
8	chr7:100744230..100748590-chr7:100780366..100783718,4	K562	blood:
9	chr7:100738210..100739761-chr7:100744164..100746838,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000128564	Chromatin interaction
ENSG00000106367	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10953321	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10953322	0.99[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11760747	0.83[EUR][1000 genomes]
rs11972491	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11973843	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11980635	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12673732	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57569772	0.88[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs66492618	0.98[ASN][1000 genomes]
rs67520893	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs67568738	0.98[ASN][1000 genomes]
rs67947224	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73404898	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]

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

No data

Chromatin state (count:54 , 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	chr7:100742200-100746200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr7:100742400-100749200	Enhancers	Placenta	Placenta
5	chr7:100744000-100746600	Weak transcription	Colonic Mucosa	Colon
6	chr7:100744000-100746600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr7:100744000-100746600	Enhancers	HepG2	liver
8	chr7:100744000-100746800	Weak transcription	Small Intestine	intestine
9	chr7:100744000-100748200	Weak transcription	Gastric	stomach
10	chr7:100744000-100751000	Weak transcription	Esophagus	oesophagus
11	chr7:100744000-100751800	Weak transcription	Left Ventricle	heart
12	chr7:100744200-100745800	Enhancers	HSMMtube	muscle
13	chr7:100744200-100745800	Enhancers	K562	blood
14	chr7:100744200-100746000	Weak transcription	Liver	Liver
15	chr7:100744200-100746200	Weak transcription	Lung	lung
16	chr7:100744200-100746600	Enhancers	Hela-S3	cervix
17	chr7:100744200-100747600	Weak transcription	Adipose Nuclei	Adipose
18	chr7:100744200-100747600	Weak transcription	Spleen	Spleen
19	chr7:100744200-100748400	Weak transcription	Right Atrium	heart
20	chr7:100744200-100751000	Weak transcription	Brain Hippocampus Middle	brain
21	chr7:100744400-100746600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr7:100744400-100746800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:100744400-100747400	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr7:100744400-100747600	Weak transcription	Right Ventricle	heart
25	chr7:100744400-100751200	Weak transcription	Psoas Muscle	Psoas
26	chr7:100744400-100751600	Weak transcription	Ovary	ovary
27	chr7:100744600-100750800	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr7:100745000-100746600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr7:100745200-100745800	Enhancers	HSMM	muscle
30	chr7:100745200-100746600	Weak transcription	HMEC	breast
31	chr7:100745200-100751600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr7:100745400-100746600	Weak transcription	NHEK	skin
33	chr7:100745400-100747400	Weak transcription	Osteobl	bone
34	chr7:100745400-100747600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr7:100745400-100748600	Enhancers	A549	lung
36	chr7:100745400-100751600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr7:100745600-100746400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr7:100745600-100746600	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr7:100745600-100746600	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr7:100745600-100746600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr7:100745600-100746600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr7:100745600-100746600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr7:100745600-100746600	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr7:100745600-100746600	Weak transcription	HUVEC	blood vessel
45	chr7:100745600-100746600	Weak transcription	NHDF-Ad	bronchial
46	chr7:100745600-100746800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr7:100745600-100746800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr7:100745600-100746800	Weak transcription	NHLF	lung
49	chr7:100745600-100747000	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr7:100745600-100747000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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