Variant report

Variant	rs6975359
Chromosome Location	chr7:5665158-5665159
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:5663770..5665922-chr7:5672442..5674114,2	K562	blood:
2	chr7:5663656..5665421-chr7:5667676..5669592,2	K562	blood:
3	chr7:5661872..5664251-chr7:5664462..5667384,2	MCF-7	breast:
4	chr7:5665100..5667122-chr7:5668120..5670662,2	K562	blood:
5	chr7:5663444..5665689-chr7:5666174..5668112,2	K562	blood:
6	chr7:5663770..5665768-chr7:5672068..5673942,2	K562	blood:
7	chr7:5652003..5655064-chr7:5663036..5666683,3	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10230002	0.88[YRI][hapmap]
rs10247769	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10254311	1.00[AMR][1000 genomes]
rs10256234	0.88[AFR][1000 genomes]
rs10265842	1.00[AMR][1000 genomes]
rs10276198	0.86[YRI][hapmap];1.00[AMR][1000 genomes]
rs11556570	1.00[AMR][1000 genomes]
rs11976654	1.00[AMR][1000 genomes]
rs28679698	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57806146	1.00[AMR][1000 genomes]
rs60073378	1.00[AMR][1000 genomes]
rs73334490	1.00[AMR][1000 genomes]
rs73334491	1.00[AMR][1000 genomes]
rs73334493	1.00[AMR][1000 genomes]
rs73338077	1.00[AMR][1000 genomes]
rs73338095	1.00[AMR][1000 genomes]

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	chr7:5647600-5673200	Weak transcription	Fetal Brain Male	brain
3	chr7:5648600-5665200	Weak transcription	HMEC	breast
4	chr7:5650000-5669600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr7:5655600-5673200	Weak transcription	Psoas Muscle	Psoas
6	chr7:5655800-5665400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:5657400-5665600	Strong transcription	Fetal Intestine Small	intestine
8	chr7:5657800-5665200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:5658200-5666400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr7:5658400-5665400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr7:5658400-5665600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr7:5658400-5666200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr7:5658600-5668600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr7:5659000-5665200	Strong transcription	Adipose Nuclei	Adipose
15	chr7:5659000-5665400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:5659000-5665400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr7:5659000-5667200	Strong transcription	Liver	Liver
18	chr7:5659000-5667600	Strong transcription	Thymus	Thymus
19	chr7:5659000-5668200	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr7:5659000-5669800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr7:5659000-5672800	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr7:5659200-5665200	Strong transcription	Gastric	stomach
23	chr7:5659200-5673400	Strong transcription	Dnd41	blood
24	chr7:5659800-5667000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr7:5660200-5665200	Strong transcription	Skeletal Muscle Male	skeletal muscle
26	chr7:5660200-5666000	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr7:5660200-5669200	Strong transcription	Primary T cells from cord blood	blood
28	chr7:5660400-5668000	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr7:5660600-5666000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr7:5660600-5666200	Strong transcription	Primary B cells from cord blood	blood
31	chr7:5660600-5667000	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr7:5660600-5693800	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr7:5660800-5665200	Strong transcription	Spleen	Spleen
34	chr7:5661000-5665200	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr7:5661000-5665600	Strong transcription	Primary B cells from peripheral blood	blood
36	chr7:5661000-5667000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr7:5661200-5665200	Strong transcription	Colon Smooth Muscle	Colon
38	chr7:5661200-5665200	Strong transcription	Duodenum Mucosa	Duodenum
39	chr7:5661200-5665400	Strong transcription	Brain Angular Gyrus	brain
40	chr7:5661200-5665400	Strong transcription	Skeletal Muscle Female	skeletal muscle
41	chr7:5661200-5665400	Strong transcription	HepG2	liver
42	chr7:5661200-5665600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr7:5661200-5665600	Strong transcription	Placenta	Placenta
44	chr7:5661200-5665800	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr7:5661200-5666000	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr7:5661200-5666600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr7:5661400-5665400	Strong transcription	A549	lung
48	chr7:5661400-5667000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr7:5661400-5668000	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr7:5661400-5669800	Strong transcription	Primary T helper cells fromperipheralblood	blood

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