Variant report

Variant	rs7800466
Chromosome Location	chr7:6295443-6295444
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:6280841..6283704-chr7:6294906..6297324,2	K562	blood:
2	chr7:6295108..6297565-chr7:6362435..6365344,2	MCF-7	breast:
3	chr7:6295150..6302020-chr7:6308719..6313384,10	MCF-7	breast:
4	chr7:6294368..6296764-chr7:6296923..6299779,2	K562	blood:
5	chr7:6293639..6295897-chr7:6307498..6309548,2	MCF-7	breast:
6	chr7:6280841..6283108-chr7:6294501..6296406,2	K562	blood:
7	chr7:6295381..6296000-chr7:6362330..6363265,2	MCF-7	breast:
8	chr7:6295146..6297854-chr7:6301609..6304566,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000008256	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10215951	1.00[EUR][1000 genomes]
rs11982134	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56009110	1.00[EUR][1000 genomes]
rs58221310	1.00[EUR][1000 genomes]
rs59898429	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6463539	1.00[EUR][1000 genomes]
rs6942707	1.00[EUR][1000 genomes]
rs6959408	1.00[EUR][1000 genomes]
rs7784130	1.00[EUR][1000 genomes]
rs7786473	1.00[AMR][1000 genomes]
rs7791072	1.00[AMR][1000 genomes]
rs7805483	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs958329	1.00[EUR][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:84 , 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	chr7:6288200-6296000	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr7:6288200-6310400	Weak transcription	Brain Angular Gyrus	brain
8	chr7:6288400-6295800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:6288400-6296000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr7:6288400-6296400	Weak transcription	Colonic Mucosa	Colon
11	chr7:6288400-6297400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr7:6288400-6297400	Weak transcription	Ovary	ovary
13	chr7:6288400-6298400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr7:6288400-6300000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr7:6288400-6306600	Weak transcription	Esophagus	oesophagus
16	chr7:6288600-6295800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr7:6289200-6297400	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr7:6289200-6300000	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr7:6289400-6297200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr7:6290400-6295600	Weak transcription	Duodenum Mucosa	Duodenum
21	chr7:6291200-6295600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr7:6291600-6296000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr7:6291600-6297400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr7:6292000-6296000	Enhancers	NHDF-Ad	bronchial
25	chr7:6292000-6296200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr7:6292200-6296000	Weak transcription	Brain Hippocampus Middle	brain
27	chr7:6292400-6300000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr7:6292600-6296000	Enhancers	Osteobl	bone
29	chr7:6292800-6295800	Weak transcription	Colon Smooth Muscle	Colon
30	chr7:6292800-6295800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr7:6292800-6296000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr7:6292800-6296000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr7:6292800-6296000	Enhancers	Muscle Satellite Cultured Cells	--
34	chr7:6292800-6296400	Weak transcription	Fetal Kidney	kidney
35	chr7:6292800-6296600	Enhancers	Left Ventricle	heart
36	chr7:6292800-6296800	Enhancers	Fetal Muscle Trunk	muscle
37	chr7:6293000-6295800	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr7:6293000-6296200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr7:6293000-6296400	Weak transcription	HMEC	breast
40	chr7:6293000-6306400	Weak transcription	NHEK	skin
41	chr7:6293200-6295800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr7:6293200-6295800	Weak transcription	Lung	lung
43	chr7:6293400-6295800	Weak transcription	Right Ventricle	heart
44	chr7:6293400-6306600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr7:6293600-6295800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr7:6293600-6296000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr7:6293600-6296600	Enhancers	Placenta	Placenta
48	chr7:6293600-6298200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr7:6293600-6299000	Enhancers	HSMMtube	muscle
50	chr7:6293800-6295800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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