Variant report

Variant	rs2797486
Chromosome Location	chr10:5781969-5781970
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:5781966..5784201-chr10:5791463..5794331,2	K562	blood:
2	chr10:5775178..5776755-chr10:5781337..5783023,2	K562	blood:
3	chr10:5775152..5778135-chr10:5781961..5783823,3	K562	blood:
4	chr10:5780274..5783194-chr10:5784148..5786108,3	K562	blood:
5	chr10:5781284..5783375-chr10:5788559..5791168,2	MCF-7	breast:
6	chr10:5781025..5783578-chr10:5784148..5786676,3	K562	blood:

Variant related genes	Relation type
ENSG00000226647	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10737018	1.00[CEU][hapmap];0.92[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10905029	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10905066	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11596832	0.82[JPT][hapmap]
rs1418739	1.00[YRI][hapmap]
rs2254067	1.00[CEU][hapmap];0.92[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2380209	0.83[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2386620	0.83[JPT][hapmap]
rs2669135	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2669137	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2797484	0.82[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2797487	1.00[CEU][hapmap];0.92[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2797491	1.00[CEU][hapmap];0.92[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2797493	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2797494	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2797501	0.84[CHB][hapmap];0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs4423100	1.00[CEU][hapmap];0.93[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56352451	0.93[ASN][1000 genomes]
rs61016063	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7082754	0.88[JPT][hapmap];1.00[YRI][hapmap];0.80[EUR][1000 genomes]
rs7900361	1.00[CEU][hapmap];0.92[CHB][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7907687	1.00[CEU][hapmap];0.92[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9423934	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534685	chr10:4914018-5853324	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	esv2759729	chr10:5557024-5804780	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	esv2758209	chr10:5637111-5804780	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	esv34147	chr10:5726821-6105717	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	esv34061	chr10:5726821-6225187	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	nsv1050663	chr10:5737979-5785918	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5753800-5783400	Weak transcription	Brain Substantia Nigra	brain
2	chr10:5753800-5787000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr10:5762200-5783000	Weak transcription	Stomach Mucosa	stomach
4	chr10:5762200-5795400	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr10:5762400-5794600	Strong transcription	Primary T helper cells PMA-I stimulated	--
6	chr10:5762600-5843400	Strong transcription	Dnd41	blood
7	chr10:5762800-5793000	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr10:5762800-5843000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr10:5763000-5795000	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr10:5763400-5788600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr10:5767200-5792800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr10:5768000-5788400	Weak transcription	Fetal Brain Male	brain
13	chr10:5768000-5849400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr10:5768600-5786400	Strong transcription	GM12878-XiMat	blood
15	chr10:5769400-5784200	Weak transcription	Psoas Muscle	Psoas
16	chr10:5771800-5790000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr10:5773000-5788400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr10:5773600-5784200	Weak transcription	Small Intestine	intestine
19	chr10:5773600-5786000	Weak transcription	Right Ventricle	heart
20	chr10:5773800-5785800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr10:5773800-5788200	Weak transcription	Fetal Kidney	kidney
22	chr10:5774000-5788200	Weak transcription	Gastric	stomach
23	chr10:5774200-5783800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr10:5774200-5786800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr10:5774400-5782000	Weak transcription	Hela-S3	cervix
26	chr10:5774400-5785200	Weak transcription	NHLF	lung
27	chr10:5774400-5788200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr10:5774400-5788200	Weak transcription	Pancreas	Pancrea
29	chr10:5774400-5788400	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr10:5774800-5788200	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr10:5775000-5785600	Weak transcription	Fetal Heart	heart
32	chr10:5775200-5794400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr10:5775400-5786200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr10:5776200-5782800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr10:5777000-5795800	Strong transcription	Fetal Thymus	thymus
36	chr10:5779000-5804600	Strong transcription	A549	lung
37	chr10:5779200-5783600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr10:5779200-5786200	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr10:5779200-5796600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr10:5779400-5795200	Strong transcription	Primary B cells from cord blood	blood
41	chr10:5779600-5782000	Weak transcription	Fetal Stomach	stomach
42	chr10:5779600-5788200	Weak transcription	Fetal Intestine Small	intestine
43	chr10:5779600-5793800	Strong transcription	HSMM	muscle
44	chr10:5779800-5783600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr10:5779800-5789800	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr10:5780200-5783000	Strong transcription	Primary hematopoietic stem cells	blood
47	chr10:5780400-5783000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr10:5780400-5785200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr10:5780400-5786400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr10:5780400-5786400	Strong transcription	Duodenum Mucosa	Duodenum

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