Variant report

Variant	rs701820
Chromosome Location	chr10:98986472-98986473
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:98986271..98988962-chr10:98994711..98997131,2	K562	blood:
2	chr10:98976025..98978892-chr10:98984824..98987620,2	K562	blood:
3	chr10:98980948..98983777-chr10:98984731..98986586,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10748695	0.82[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap]
rs10748696	0.85[CEU][hapmap];0.92[CHB][hapmap];0.88[JPT][hapmap]
rs10882878	0.87[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs11189082	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs12265444	1.00[ASN][1000 genomes]
rs1253391	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1253392	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1253393	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1253398	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap]
rs1253402	0.85[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs1253406	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1253428	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2009466	0.82[AFR][1000 genomes]
rs2244070	0.82[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs2247283	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs2253301	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.94[JPT][hapmap]
rs2265598	0.82[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs2487273	0.92[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs2487274	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs6584122	0.91[MEX][hapmap]
rs701822	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[JPT][hapmap]
rs7092389	1.00[ASN][1000 genomes]
rs7905604	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs793514	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs793523	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs793529	1.00[ASW][hapmap];0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.81[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532232	chr10:98360775-99141797	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv1041614	chr10:98928281-99083056	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv3361060	chr10:98939103-99025202	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv1045553	chr10:98944397-99122203	Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv540750	chr10:98944397-99122203	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	esv1797410	chr10:98983785-99041740	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1040903	chr10:98986382-99047475	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:98972400-98988400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr10:98973800-99019000	Weak transcription	HepG2	liver
3	chr10:98976000-99011400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr10:98976400-98988200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr10:98976800-98988200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr10:98977200-99023800	Weak transcription	Colonic Mucosa	Colon
7	chr10:98977400-99027000	Weak transcription	Right Ventricle	heart
8	chr10:98978200-99003400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr10:98978200-99003600	Weak transcription	NHEK	skin
10	chr10:98978600-98988800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr10:98978600-99019000	Weak transcription	HSMMtube	muscle
12	chr10:98978600-99030400	Weak transcription	NH-A	brain
13	chr10:98978600-99037400	Weak transcription	HSMM	muscle
14	chr10:98978600-99051800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr10:98979000-98990400	Strong transcription	Fetal Thymus	thymus
16	chr10:98979000-99027400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr10:98979200-98987200	Weak transcription	Fetal Intestine Large	intestine
18	chr10:98979400-98989600	Weak transcription	NHLF	lung
19	chr10:98979400-99000600	Strong transcription	Dnd41	blood
20	chr10:98979600-98990000	Strong transcription	Thymus	Thymus
21	chr10:98979600-99003400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr10:98980200-98987000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr10:98980200-98989600	Strong transcription	Primary T cells from cord blood	blood
24	chr10:98980200-98992800	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr10:98980400-98988000	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr10:98980600-98990400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr10:98980800-98987000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr10:98980800-98988800	Weak transcription	A549	lung
29	chr10:98981000-98987200	Strong transcription	Fetal Stomach	stomach
30	chr10:98981000-99018200	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr10:98981400-98989200	Strong transcription	Fetal Muscle Leg	muscle
32	chr10:98981400-98989600	Strong transcription	Primary hematopoietic stem cells	blood
33	chr10:98981400-98990400	Strong transcription	Fetal Muscle Trunk	muscle
34	chr10:98981400-99025400	Weak transcription	Colon Smooth Muscle	Colon
35	chr10:98982200-98988800	Strong transcription	Lung	lung
36	chr10:98982200-98990000	Strong transcription	Primary B cells from peripheral blood	blood
37	chr10:98982200-98990200	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr10:98982200-98991600	Strong transcription	Primary B cells from cord blood	blood
39	chr10:98982400-98987200	Strong transcription	Duodenum Mucosa	Duodenum
40	chr10:98982400-98988600	Weak transcription	Fetal Kidney	kidney
41	chr10:98982400-98998800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr10:98982400-99003400	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr10:98982600-98987400	Strong transcription	GM12878-XiMat	blood
44	chr10:98982600-98992000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr10:98982600-98993200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr10:98982600-99007600	Weak transcription	Fetal Brain Female	brain
47	chr10:98982600-99007600	Weak transcription	Placenta	Placenta
48	chr10:98982600-99020800	Weak transcription	Brain Cingulate Gyrus	brain
49	chr10:98982800-98999200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr10:98983000-98986600	Weak transcription	Aorta	Aorta

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