Variant report

Variant	rs2410814
Chromosome Location	chr7:100953446-100953447
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:100952576..100954164-chr7:101180283..101182440,2	K562	blood:
2	chr7:100950840..100954191-chr7:100963498..100966604,5	MCF-7	breast:
3	chr7:100946318..100948768-chr7:100952745..100954831,2	MCF-7	breast:
4	chr7:100948583..100953192-chr7:100953249..100959954,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000128581	Chromatin interaction
ENSG00000232445	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10238655	0.95[ASN][1000 genomes]
rs12113715	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12666399	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13228710	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2410816	0.92[EUR][1000 genomes]
rs2410819	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28369106	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35994757	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4729681	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4729684	0.95[ASN][1000 genomes]
rs4729685	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4729687	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6465795	0.95[ASN][1000 genomes]
rs6465796	0.91[EUR][1000 genomes]
rs6946358	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6948133	0.82[ASN][1000 genomes]
rs6958889	0.95[ASN][1000 genomes]
rs7799285	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9690695	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9692596	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[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	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
2	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
3	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
4	nsv464651	chr7:100792810-100971604	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv607974	chr7:100792810-100971604	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	nsv429788	chr7:100799565-101178565	Weak transcription Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
7	esv2752134	chr7:100800131-101141867	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
8	nsv831076	chr7:100828847-101011674	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
9	esv2422326	chr7:100833449-101000131	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
10	nsv607978	chr7:100861213-100971604	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
11	nsv831077	chr7:100874209-101083930	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
12	nsv1023393	chr7:100904333-101102046	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
13	esv2752135	chr7:100932330-101135565	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
14	esv2752136	chr7:100932330-101143259	Genic enhancers Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
15	nsv1017098	chr7:100935631-101117541	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
16	nsv539042	chr7:100935631-101117541	Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
17	esv2752137	chr7:100938008-101135398	ZNF genes & repeats Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100951800-100958000	Weak transcription	Fetal Kidney	kidney
2	chr7:100951800-100964000	Weak transcription	Fetal Heart	heart
3	chr7:100952000-100957800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr7:100952000-100958000	Weak transcription	HSMM	muscle
5	chr7:100952200-100955800	ZNF genes & repeats	Fetal Intestine Small	intestine
6	chr7:100952200-100964000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr7:100952400-100958000	Weak transcription	Ovary	ovary
8	chr7:100952400-100958000	Weak transcription	NH-A	brain
9	chr7:100952400-100959200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr7:100952400-100964000	Weak transcription	Liver	Liver
11	chr7:100952400-100964000	Weak transcription	Right Ventricle	heart
12	chr7:100952400-100964200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr7:100952400-100964200	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr7:100952400-100964400	Weak transcription	Psoas Muscle	Psoas
15	chr7:100952400-100964400	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr7:100952400-100964400	Weak transcription	NHLF	lung
17	chr7:100952600-100953600	Weak transcription	A549	lung
18	chr7:100952600-100953600	Weak transcription	HMEC	breast
19	chr7:100952600-100957600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr7:100952600-100957800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr7:100952600-100958000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr7:100952600-100958200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr7:100952600-100958200	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr7:100952600-100964000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr7:100952600-100964000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr7:100952600-100964000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr7:100952600-100964000	Weak transcription	Colonic Mucosa	Colon
28	chr7:100952600-100964000	Weak transcription	Duodenum Mucosa	Duodenum
29	chr7:100952600-100964000	Weak transcription	Esophagus	oesophagus
30	chr7:100952600-100964000	Weak transcription	HUVEC	blood vessel
31	chr7:100952600-100964400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:100952600-100964400	Weak transcription	Gastric	stomach
33	chr7:100952800-100953600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr7:100952800-100953600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr7:100952800-100953600	Weak transcription	Hela-S3	cervix
36	chr7:100952800-100953600	Weak transcription	NHEK	skin
37	chr7:100952800-100953800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr7:100952800-100958000	Weak transcription	Pancreas	Pancrea
39	chr7:100953000-100953600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr7:100953000-100953800	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
41	chr7:100953000-100953800	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr7:100953000-100954200	Strong transcription	HepG2	liver
43	chr7:100953000-100954800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr7:100953000-100955000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr7:100953200-100953800	Genic enhancers	HUES64 Cell Line	embryonic stem cell
46	chr7:100953200-100953800	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr7:100953200-100954000	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr7:100953200-100954200	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr7:100953200-100954400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
50	chr7:100953200-100955200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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