Variant report

Variant	rs6975280
Chromosome Location	chr7:5662848-5662849
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:5661377..5664356-chr7:5673284..5675740,2	MCF-7	breast:
2	chr7:5661872..5664251-chr7:5664462..5667384,2	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11971291	0.86[AFR][1000 genomes]
rs11980556	0.87[YRI][hapmap]
rs6948331	0.87[YRI][hapmap]
rs6960197	0.85[YRI][hapmap]
rs6965723	0.87[YRI][hapmap]
rs6968987	0.87[YRI][hapmap]
rs6973104	0.85[YRI][hapmap]
rs6974774	1.00[ASW][hapmap];0.87[YRI][hapmap]
rs6975456	1.00[AFR][1000 genomes]
rs852378	0.87[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869165	chr7:4889618-5799719	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	352 gene(s)	inside rSNPs	diseases
2	nsv530979	chr7:5101631-5864814	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
3	nsv530981	chr7:5157150-5920006	Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	348 gene(s)	inside rSNPs	diseases
4	esv1814049	chr7:5314993-5675131	Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer 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 miRNA target site	333 gene(s)	inside rSNPs	diseases
5	esv1820266	chr7:5332088-5665173	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	332 gene(s)	inside rSNPs	diseases
6	nsv530983	chr7:5370746-6070852	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
7	nsv887404	chr7:5402606-5667645	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	331 gene(s)	inside rSNPs	diseases
8	nsv916391	chr7:5417945-5889565	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	336 gene(s)	inside rSNPs	diseases
9	nsv887408	chr7:5432672-5667645	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	331 gene(s)	inside rSNPs	diseases
10	nsv830890	chr7:5464933-5705158	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
11	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
12	nsv1025434	chr7:5537571-5705283	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	297 gene(s)	inside rSNPs	diseases
13	nsv482449	chr7:5557585-5743673	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases
14	nsv1033556	chr7:5565080-6186815	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
15	nsv538710	chr7:5565080-6186815	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
16	nsv887414	chr7:5584934-5667645	Flanking Bivalent TSS/Enh Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
17	nsv887415	chr7:5584934-5675305	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
18	nsv887416	chr7:5584934-5695259	Genic enhancers Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
19	nsv530467	chr7:5617816-5815082	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
20	nsv1017612	chr7:5629728-5819144	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
21	nsv1021989	chr7:5629728-6186815	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
22	nsv1034883	chr7:5651680-5696147	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5638800-5671000	Weak transcription	Right Atrium	heart
2	chr7:5642800-5664800	Weak transcription	Hela-S3	cervix
3	chr7:5647200-5663000	Weak transcription	NH-A	brain
4	chr7:5647600-5673200	Weak transcription	Fetal Brain Male	brain
5	chr7:5648600-5665200	Weak transcription	HMEC	breast
6	chr7:5650000-5669600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr7:5650400-5665000	Weak transcription	K562	blood
8	chr7:5655600-5673200	Weak transcription	Psoas Muscle	Psoas
9	chr7:5655800-5664000	Weak transcription	NHEK	skin
10	chr7:5655800-5665400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:5657000-5664400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr7:5657400-5665600	Strong transcription	Fetal Intestine Small	intestine
13	chr7:5657600-5663800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:5657800-5664400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr7:5657800-5665200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:5658200-5664800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr7:5658200-5664800	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr7:5658200-5666400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr7:5658400-5664400	Strong transcription	Osteobl	bone
20	chr7:5658400-5664800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr7:5658400-5665000	Strong transcription	Stomach Smooth Muscle	stomach
22	chr7:5658400-5665400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr7:5658400-5665600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr7:5658400-5666200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr7:5658600-5664600	Strong transcription	Fetal Intestine Large	intestine
26	chr7:5658600-5668600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr7:5658800-5664400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr7:5659000-5663800	Strong transcription	Brain Hippocampus Middle	brain
29	chr7:5659000-5664200	Strong transcription	NHLF	lung
30	chr7:5659000-5664600	Strong transcription	Aorta	Aorta
31	chr7:5659000-5664800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr7:5659000-5664800	Strong transcription	Right Ventricle	heart
33	chr7:5659000-5665000	Strong transcription	Esophagus	oesophagus
34	chr7:5659000-5665000	Strong transcription	Fetal Brain Female	brain
35	chr7:5659000-5665200	Strong transcription	Adipose Nuclei	Adipose
36	chr7:5659000-5665400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr7:5659000-5665400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr7:5659000-5667200	Strong transcription	Liver	Liver
39	chr7:5659000-5667600	Strong transcription	Thymus	Thymus
40	chr7:5659000-5668200	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr7:5659000-5669800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr7:5659000-5672800	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr7:5659200-5663600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr7:5659200-5664800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr7:5659200-5665200	Strong transcription	Gastric	stomach
46	chr7:5659200-5673400	Strong transcription	Dnd41	blood
47	chr7:5659600-5663200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr7:5659800-5667000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr7:5660000-5664200	Strong transcription	Colonic Mucosa	Colon
50	chr7:5660200-5665200	Strong transcription	Skeletal Muscle Male	skeletal muscle

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