Variant report

Variant	rs6978490
Chromosome Location	chr7:4781971-4781972
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:4721996..4723803-chr7:4781821..4784827,3	MCF-7	breast:
2	chr7:4777828..4782067-chr7:4812094..4815733,5	K562	blood:
3	chr7:4762343..4766286-chr7:4781806..4786084,5	MCF-7	breast:
4	chr7:4718155..4726493-chr7:4775257..4787798,22	MCF-7	breast:

Variant related genes	Relation type
ENSG00000242802	Chromatin interaction
ENSG00000164916	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs6977882	0.96[AFR][1000 genomes]
rs6978825	0.96[AFR][1000 genomes]
rs7805692	0.96[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529538	chr7:4509189-5151503	Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv530968	chr7:4572250-5418004	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv1031697	chr7:4677463-5241790	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv538704	chr7:4677463-5241790	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS 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	59 gene(s)	inside rSNPs	diseases
5	nsv887377	chr7:4730535-4862259	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv887378	chr7:4730535-4929721	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv887379	chr7:4749527-4828593	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv887380	chr7:4760124-4929721	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
9	nsv471293	chr7:4764861-4885221	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
10	nsv887381	chr7:4769030-4880954	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer 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 miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4765600-4783200	Weak transcription	Fetal Brain Male	brain
2	chr7:4765600-4784000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr7:4765800-4782400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:4766000-4783600	Weak transcription	HMEC	breast
5	chr7:4778800-4782200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:4778800-4782400	Strong transcription	Cortex derived primary cultured neurospheres	brain
7	chr7:4779400-4782600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr7:4779400-4783200	Weak transcription	Psoas Muscle	Psoas
9	chr7:4779600-4782200	Weak transcription	Fetal Kidney	kidney
10	chr7:4779600-4782600	Weak transcription	HSMM	muscle
11	chr7:4779600-4782800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr7:4779600-4783200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr7:4779600-4783200	Weak transcription	Right Atrium	heart
14	chr7:4779600-4783400	Weak transcription	Small Intestine	intestine
15	chr7:4779600-4783800	Weak transcription	NHDF-Ad	bronchial
16	chr7:4779600-4785400	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr7:4779800-4783200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr7:4779800-4783200	Weak transcription	Fetal Heart	heart
19	chr7:4779800-4783800	Weak transcription	Primary B cells from cord blood	blood
20	chr7:4780000-4782000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr7:4780000-4782200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr7:4780000-4782200	Strong transcription	Dnd41	blood
23	chr7:4780000-4782600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr7:4780000-4783000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr7:4780000-4783200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr7:4780000-4783400	Genic enhancers	Fetal Thymus	thymus
27	chr7:4780200-4782200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr7:4780200-4782200	Strong transcription	Fetal Muscle Trunk	muscle
29	chr7:4780200-4782400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr7:4780200-4783200	Strong transcription	NHEK	skin
31	chr7:4780200-4783400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr7:4780200-4783400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr7:4780200-4783800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr7:4780400-4782400	Strong transcription	Hela-S3	cervix
35	chr7:4780400-4782600	Strong transcription	Esophagus	oesophagus
36	chr7:4780400-4782600	Strong transcription	Right Ventricle	heart
37	chr7:4780400-4782600	Strong transcription	Spleen	Spleen
38	chr7:4780400-4782800	Strong transcription	Primary B cells from peripheral blood	blood
39	chr7:4780400-4782800	Strong transcription	Primary hematopoietic stem cells	blood
40	chr7:4780400-4782800	Strong transcription	Brain Germinal Matrix	brain
41	chr7:4780400-4782800	Strong transcription	Thymus	Thymus
42	chr7:4780400-4782800	Strong transcription	HUVEC	blood vessel
43	chr7:4780400-4782800	Strong transcription	NHLF	lung
44	chr7:4780400-4783000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr7:4780400-4783000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr7:4780400-4783000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr7:4780400-4783000	Strong transcription	Adipose Nuclei	Adipose
48	chr7:4780400-4783000	Strong transcription	Lung	lung
49	chr7:4780400-4783200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr7:4780400-4783200	Strong transcription	Placenta	Placenta

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