Variant report

Variant	rs2287595
Chromosome Location	chr7:5755007-5755008
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:5750432..5753132-chr7:5754359..5757774,3	K562	blood:

Variant related genes	Relation type
ENSG00000011275	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10232762	1.00[ASN][1000 genomes]
rs10233615	0.94[ASN][1000 genomes]
rs10241310	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10259773	0.94[ASN][1000 genomes]
rs10275238	0.98[ASN][1000 genomes]
rs1035331	0.94[ASN][1000 genomes]
rs11531468	0.94[ASN][1000 genomes]
rs12531598	0.94[ASN][1000 genomes]
rs1990836	0.94[ASN][1000 genomes]
rs2009260	0.98[ASN][1000 genomes]
rs2287593	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3735289	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3801016	1.00[CHB][hapmap];0.89[JPT][hapmap];0.94[ASN][1000 genomes]
rs3801019	1.00[ASN][1000 genomes]
rs3807580	0.88[JPT][hapmap];1.00[MEX][hapmap]
rs3823683	1.00[ASN][1000 genomes]
rs3857756	0.80[YRI][hapmap]
rs4720640	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4720641	0.92[ASN][1000 genomes]
rs4720642	0.92[ASN][1000 genomes]
rs4724712	1.00[CHB][hapmap]
rs4724713	1.00[ASN][1000 genomes]
rs4724718	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[ASN][1000 genomes]
rs61203027	0.96[ASN][1000 genomes]
rs6463506	1.00[ASN][1000 genomes]
rs6463507	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[ASN][1000 genomes]
rs6944143	0.92[ASN][1000 genomes]
rs6956960	1.00[ASN][1000 genomes]
rs6958272	0.80[ASN][1000 genomes]
rs6959871	0.88[JPT][hapmap]
rs6960381	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs6960897	0.94[ASN][1000 genomes]
rs6971289	1.00[MEX][hapmap]
rs7777831	1.00[ASN][1000 genomes]
rs7795879	0.86[JPT][hapmap]
rs7796461	1.00[ASN][1000 genomes]
rs7800691	1.00[ASN][1000 genomes]
rs7803308	0.96[ASN][1000 genomes]
rs7806110	0.88[JPT][hapmap];1.00[MEX][hapmap]
rs852257	0.94[ASN][1000 genomes]
rs852258	0.94[ASN][1000 genomes]
rs852265	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[ASN][1000 genomes]
rs852266	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[ASN][1000 genomes]
rs852267	1.00[ASN][1000 genomes]
rs852375	0.89[JPT][hapmap];1.00[MEX][hapmap]
rs852376	0.89[JPT][hapmap];1.00[MEX][hapmap]
rs852397	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[ASN][1000 genomes]
rs852402	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[ASN][1000 genomes]
rs852409	0.94[ASN][1000 genomes]
rs852410	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs852415	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs852420	0.89[JPT][hapmap]
rs852421	0.83[AMR][1000 genomes]
rs852441	0.89[JPT][hapmap];1.00[MEX][hapmap]
rs852448	0.81[ASN][1000 genomes]
rs852453	0.89[JPT][hapmap]
rs852457	0.81[ASN][1000 genomes]
rs852468	0.89[JPT][hapmap]
rs852489	0.86[JPT][hapmap]
rs852516	0.89[JPT][hapmap];1.00[MEX][hapmap];0.80[AMR][1000 genomes]
rs888582	1.00[ASN][1000 genomes]
rs888583	1.00[ASN][1000 genomes]
rs9648578	1.00[ASN][1000 genomes]
rs9691118	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:19 , 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	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	nsv887417	chr7:5667645-5760860	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
13	nsv887418	chr7:5675305-5772551	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
14	nsv887419	chr7:5703669-5820383	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
15	nsv1028652	chr7:5706207-5769489	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
16	nsv830891	chr7:5726301-5895460	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
17	nsv1028601	chr7:5748982-5919098	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
18	nsv1034215	chr7:5748982-6056619	Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
19	nsv1016690	chr7:5749222-6056619	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5723400-5766400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:5737400-5767200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:5737600-5774200	Strong transcription	Dnd41	blood
4	chr7:5739600-5769600	Strong transcription	Fetal Intestine Large	intestine
5	chr7:5740000-5760800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:5741200-5763600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr7:5742000-5757200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr7:5744200-5760800	Weak transcription	Fetal Brain Male	brain
9	chr7:5744200-5760800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr7:5744200-5766600	Weak transcription	Stomach Mucosa	stomach
11	chr7:5744200-5769400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr7:5744400-5760000	Weak transcription	Fetal Heart	heart
13	chr7:5744600-5757400	Strong transcription	NH-A	brain
14	chr7:5744600-5762800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr7:5744600-5764000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr7:5744600-5769400	Strong transcription	Primary T cells from cord blood	blood
17	chr7:5744600-5769600	Strong transcription	Fetal Muscle Trunk	muscle
18	chr7:5744800-5756400	Strong transcription	Fetal Thymus	thymus
19	chr7:5744800-5762600	Strong transcription	Placenta	Placenta
20	chr7:5744800-5762800	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr7:5744800-5769200	Strong transcription	Fetal Muscle Leg	muscle
22	chr7:5744800-5769600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr7:5745000-5769200	Strong transcription	Sigmoid Colon	Sigmoid Colon
24	chr7:5745000-5769800	Strong transcription	Liver	Liver
25	chr7:5746000-5755400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr7:5746000-5755800	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr7:5746000-5756200	Strong transcription	Primary B cells from cord blood	blood
28	chr7:5746000-5756400	Strong transcription	Primary B cells from peripheral blood	blood
29	chr7:5746000-5756800	Strong transcription	Osteobl	bone
30	chr7:5746000-5757200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr7:5746000-5757200	Strong transcription	Duodenum Smooth Muscle	Duodenum
32	chr7:5746000-5757200	Strong transcription	Skeletal Muscle Female	skeletal muscle
33	chr7:5746000-5757600	Strong transcription	Duodenum Mucosa	Duodenum
34	chr7:5746000-5761600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr7:5746000-5763000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr7:5746000-5769600	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr7:5746000-5770400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr7:5746000-5771200	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr7:5746200-5755400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr7:5746200-5761000	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr7:5746600-5756800	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr7:5747200-5757200	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr7:5747400-5755200	Strong transcription	Muscle Satellite Cultured Cells	--
44	chr7:5747400-5756400	Strong transcription	Ovary	ovary
45	chr7:5747400-5761600	Strong transcription	Fetal Intestine Small	intestine
46	chr7:5747400-5769200	Strong transcription	Fetal Stomach	stomach
47	chr7:5747400-5769400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr7:5747400-5769600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr7:5747600-5755800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr7:5747600-5756800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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