Variant report

Variant	rs2698769
Chromosome Location	chr10:49603039-49603040
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:49587644..49589610-chr10:49601612..49603267,2	K562	blood:
2	chr10:49602827..49604920-chr10:49676681..49679745,3	K562	blood:
3	chr10:49597219..49599872-chr10:49602103..49604352,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10735224	0.94[AFR][1000 genomes]
rs10735225	0.94[AFR][1000 genomes]
rs10776599	0.94[AFR][1000 genomes]
rs10776605	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs10857569	1.00[CEU][hapmap]
rs10857570	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs11101265	1.00[GIH][hapmap]
rs11101337	1.00[CEU][hapmap]
rs11816450	1.00[GIH][hapmap]
rs12249536	1.00[GIH][hapmap]
rs12252237	1.00[GIH][hapmap]
rs1429801	1.00[GIH][hapmap]
rs1550774	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17011328	1.00[GIH][hapmap]
rs1814473	1.00[CEU][hapmap]
rs1867575	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs1881739	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1919705	1.00[CEU][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1978998	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2463956	1.00[LWK][hapmap]
rs2590379	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2590380	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2590387	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2590388	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2590390	0.92[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2698760	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2698765	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3730154	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3867450	1.00[CEU][hapmap]
rs4012795	1.00[CEU][hapmap]
rs4012801	1.00[CEU][hapmap]
rs4141840	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4281444	0.83[AFR][1000 genomes]
rs4385845	0.82[ASW][hapmap]
rs58181014	0.83[AFR][1000 genomes]
rs7085678	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs73293198	0.87[AFR][1000 genomes]
rs7893756	0.82[ASW][hapmap]
rs7894863	0.94[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv895372	chr10:49576878-49933488	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1039508	chr10:49595718-49654403	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49593200-49607600	Weak transcription	Fetal Lung	lung
2	chr10:49595000-49616000	Weak transcription	Primary B cells from cord blood	blood
3	chr10:49598200-49606400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr10:49598600-49619800	Weak transcription	Fetal Intestine Small	intestine
5	chr10:49598800-49612800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr10:49599200-49608200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr10:49599200-49622200	Weak transcription	HepG2	liver
8	chr10:49599400-49606400	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr10:49599800-49606200	Weak transcription	Brain Anterior Caudate	brain
10	chr10:49599800-49606200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr10:49599800-49606800	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr10:49599800-49607200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr10:49599800-49618000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr10:49600000-49606800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr10:49600000-49607000	Weak transcription	NHLF	lung
16	chr10:49600000-49607400	Weak transcription	Fetal Thymus	thymus
17	chr10:49600000-49612400	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr10:49600000-49613400	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr10:49600000-49613600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr10:49600000-49618600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr10:49600200-49606200	Weak transcription	Brain Substantia Nigra	brain
22	chr10:49600200-49607000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr10:49600200-49612400	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr10:49600200-49617400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr10:49600200-49618200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr10:49600400-49606200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr10:49600400-49606400	Weak transcription	Fetal Heart	heart
28	chr10:49600400-49607000	Weak transcription	HMEC	breast
29	chr10:49600400-49607200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr10:49600400-49607200	Weak transcription	Ovary	ovary
31	chr10:49600400-49607400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr10:49600400-49608000	Weak transcription	Small Intestine	intestine
33	chr10:49600400-49616800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr10:49600400-49620200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr10:49601200-49603800	Weak transcription	K562	blood
36	chr10:49601200-49606200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr10:49601200-49606800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr10:49601200-49607200	Weak transcription	HSMM	muscle
39	chr10:49601200-49613800	Weak transcription	Primary T cells from cord blood	blood
40	chr10:49602200-49607200	Weak transcription	NHDF-Ad	bronchial

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