Variant report

Variant	rs6944216
Chromosome Location	chr7:6293036-6293037
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:6290547..6293891-chr7:6295729..6298569,3	MCF-7	breast:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10229323	1.00[EUR][1000 genomes]
rs10235115	1.00[EUR][1000 genomes]
rs10241580	0.95[ASN][1000 genomes]
rs10245186	0.89[ASN][1000 genomes]
rs10252947	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10253501	0.80[AMR][1000 genomes]
rs10255411	0.86[AMR][1000 genomes]
rs10255662	0.89[ASN][1000 genomes]
rs10255944	0.95[AMR][1000 genomes]
rs10255947	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10263878	0.89[ASN][1000 genomes]
rs10267982	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10271600	1.00[EUR][1000 genomes]
rs11760468	1.00[EUR][1000 genomes]
rs11768749	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs34123833	1.00[EUR][1000 genomes]
rs59100979	1.00[EUR][1000 genomes]
rs59180903	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59568570	1.00[EUR][1000 genomes]
rs6463540	1.00[ASN][1000 genomes]
rs6942707	0.89[ASN][1000 genomes]
rs6946205	0.95[ASN][1000 genomes]
rs6955065	0.89[ASN][1000 genomes]
rs6960965	0.84[ASN][1000 genomes]
rs6961095	0.89[ASN][1000 genomes]
rs6962767	0.95[ASN][1000 genomes]
rs6969814	0.95[ASN][1000 genomes]
rs6969863	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6976305	1.00[EUR][1000 genomes]
rs7783018	0.95[ASN][1000 genomes]
rs7784025	0.95[ASN][1000 genomes]
rs7791225	0.95[ASN][1000 genomes]
rs7807841	0.84[ASN][1000 genomes]
rs958329	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
2	nsv948912	chr7:5803903-6623553	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
3	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription 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 miRNA target site	138 gene(s)	inside rSNPs	diseases
4	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
5	nsv1028242	chr7:5819084-6645024	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
6	nsv538712	chr7:5819084-6645024	Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription 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 miRNA target site	127 gene(s)	inside rSNPs	diseases
7	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
8	nsv1021037	chr7:6070792-6426966	Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
9	nsv538713	chr7:6070792-6426966	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
10	nsv530989	chr7:6176729-6438197	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
11	nsv482829	chr7:6231809-6407606	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	nsv1032987	chr7:6246313-6373054	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv538714	chr7:6246313-6373054	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv1020236	chr7:6248930-6690377	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6274400-6296000	Weak transcription	Primary B cells from cord blood	blood
2	chr7:6275000-6296000	Weak transcription	Fetal Intestine Small	intestine
3	chr7:6281200-6296000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:6286400-6295800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr7:6287000-6297400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr7:6287600-6295000	Weak transcription	Fetal Stomach	stomach
7	chr7:6288000-6293400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr7:6288200-6296000	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr7:6288200-6310400	Weak transcription	Brain Angular Gyrus	brain
10	chr7:6288400-6295800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:6288400-6296000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr7:6288400-6296400	Weak transcription	Colonic Mucosa	Colon
13	chr7:6288400-6297400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr7:6288400-6297400	Weak transcription	Ovary	ovary
15	chr7:6288400-6298400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr7:6288400-6300000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr7:6288400-6306600	Weak transcription	Esophagus	oesophagus
18	chr7:6288600-6295800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr7:6289200-6295000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr7:6289200-6295000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr7:6289200-6297400	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr7:6289200-6300000	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr7:6289400-6297200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr7:6290200-6293400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr7:6290200-6293400	Enhancers	HSMM	muscle
26	chr7:6290400-6293600	Weak transcription	K562	blood
27	chr7:6290400-6295600	Weak transcription	Duodenum Mucosa	Duodenum
28	chr7:6290600-6293200	Enhancers	Fetal Heart	heart
29	chr7:6290600-6293600	Weak transcription	Placenta	Placenta
30	chr7:6291000-6294400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr7:6291200-6294000	Weak transcription	Fetal Muscle Leg	muscle
32	chr7:6291200-6294200	Weak transcription	Right Atrium	heart
33	chr7:6291200-6295000	Weak transcription	Psoas Muscle	Psoas
34	chr7:6291200-6295200	Weak transcription	Primary hematopoietic stem cells	blood
35	chr7:6291200-6295600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr7:6291600-6296000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr7:6291600-6297400	Weak transcription	Stomach Smooth Muscle	stomach
38	chr7:6291800-6293200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr7:6291800-6294200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr7:6292000-6296000	Enhancers	NHDF-Ad	bronchial
41	chr7:6292000-6296200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr7:6292200-6294400	Weak transcription	A549	lung
43	chr7:6292200-6296000	Weak transcription	Brain Hippocampus Middle	brain
44	chr7:6292400-6293200	Enhancers	HSMMtube	muscle
45	chr7:6292400-6293400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr7:6292400-6294600	Weak transcription	Fetal Lung	lung
47	chr7:6292400-6294800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr7:6292400-6300000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr7:6292600-6293200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr7:6292600-6293200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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