Variant report

Variant	rs852461
Chromosome Location	chr7:5664603-5664604
allele	A/C
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	chr7:5663444..5665689-chr7:5666174..5668112,2	K562	blood:
5	chr7:5663770..5665768-chr7:5672068..5673942,2	K562	blood:
6	chr7:5652003..5655064-chr7:5663036..5666683,3	MCF-7	breast:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10241310	1.00[CEU][hapmap];0.88[JPT][hapmap]
rs2287593	1.00[CEU][hapmap];0.89[JPT][hapmap]
rs2287595	0.89[JPT][hapmap]
rs28417882	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3801016	1.00[CEU][hapmap]
rs4720640	1.00[CEU][hapmap];0.88[JPT][hapmap]
rs4724718	0.82[CEU][hapmap]
rs61203027	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6463507	1.00[CEU][hapmap];0.89[JPT][hapmap]
rs6959871	0.82[CEU][hapmap]
rs6960381	1.00[CEU][hapmap];0.89[JPT][hapmap]
rs6971289	0.89[JPT][hapmap]
rs710941	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7804319	0.82[CEU][hapmap];0.89[JPT][hapmap]
rs852265	1.00[CEU][hapmap];0.89[JPT][hapmap]
rs852266	1.00[CEU][hapmap];0.89[JPT][hapmap];0.85[YRI][hapmap]
rs852375	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852376	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs852396	0.83[YRI][hapmap]
rs852397	1.00[CEU][hapmap];0.89[JPT][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs852402	1.00[CEU][hapmap];0.89[JPT][hapmap];0.86[YRI][hapmap];0.85[AMR][1000 genomes]
rs852409	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs852410	1.00[CEU][hapmap];0.89[JPT][hapmap];0.83[YRI][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs852415	1.00[CEU][hapmap];0.89[JPT][hapmap];0.83[YRI][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs852420	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852421	0.92[CHB][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852438	0.93[YRI][hapmap]
rs852441	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852442	0.90[YRI][hapmap]
rs852448	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs852450	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852453	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852457	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs852468	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852472	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs852489	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs852516	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs860425	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9691118	0.89[JPT][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	chr7:5647600-5673200	Weak transcription	Fetal Brain Male	brain
4	chr7:5648600-5665200	Weak transcription	HMEC	breast
5	chr7:5650000-5669600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr7:5650400-5665000	Weak transcription	K562	blood
7	chr7:5655600-5673200	Weak transcription	Psoas Muscle	Psoas
8	chr7:5655800-5665400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:5657400-5665600	Strong transcription	Fetal Intestine Small	intestine
10	chr7:5657800-5665200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:5658200-5664800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:5658200-5664800	Strong transcription	Cortex derived primary cultured neurospheres	brain
13	chr7:5658200-5666400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr7:5658400-5664800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr7:5658400-5665000	Strong transcription	Stomach Smooth Muscle	stomach
16	chr7:5658400-5665400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:5658400-5665600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:5658400-5666200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr7:5658600-5668600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr7:5659000-5664800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr7:5659000-5664800	Strong transcription	Right Ventricle	heart
22	chr7:5659000-5665000	Strong transcription	Esophagus	oesophagus
23	chr7:5659000-5665000	Strong transcription	Fetal Brain Female	brain
24	chr7:5659000-5665200	Strong transcription	Adipose Nuclei	Adipose
25	chr7:5659000-5665400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:5659000-5665400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr7:5659000-5667200	Strong transcription	Liver	Liver
28	chr7:5659000-5667600	Strong transcription	Thymus	Thymus
29	chr7:5659000-5668200	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr7:5659000-5669800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr7:5659000-5672800	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr7:5659200-5664800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr7:5659200-5665200	Strong transcription	Gastric	stomach
34	chr7:5659200-5673400	Strong transcription	Dnd41	blood
35	chr7:5659800-5667000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr7:5660200-5665200	Strong transcription	Skeletal Muscle Male	skeletal muscle
37	chr7:5660200-5666000	Strong transcription	Primary T helper cells PMA-I stimulated	--
38	chr7:5660200-5669200	Strong transcription	Primary T cells from cord blood	blood
39	chr7:5660400-5668000	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr7:5660600-5664800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr7:5660600-5664800	Strong transcription	Pancreas	Pancrea
42	chr7:5660600-5665000	Strong transcription	Fetal Lung	lung
43	chr7:5660600-5666000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr7:5660600-5666200	Strong transcription	Primary B cells from cord blood	blood
45	chr7:5660600-5667000	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr7:5660600-5693800	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr7:5660800-5664800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr7:5660800-5665200	Strong transcription	Spleen	Spleen
49	chr7:5661000-5665200	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr7:5661000-5665600	Strong transcription	Primary B cells from peripheral blood	blood

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