Variant report

Variant	rs2247838
Chromosome Location	chr15:56508743-56508744
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:56498392..56501238-chr15:56507855..56509963,2	K562	blood:
2	chr15:56496910..56499892-chr15:56507573..56509355,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10152826	0.88[CEU][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10162834	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs10163161	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10438327	0.88[CEU][hapmap];0.80[TSI][hapmap]
rs11632218	0.92[CEU][hapmap]
rs11853962	0.92[CEU][hapmap];0.80[MEX][hapmap];0.93[TSI][hapmap]
rs11858173	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11858245	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12899534	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs13379820	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1426070	0.80[CEU][hapmap];0.80[MEX][hapmap];0.91[TSI][hapmap]
rs17238601	1.00[CEU][hapmap];0.94[GIH][hapmap];0.93[TSI][hapmap];0.80[EUR][1000 genomes]
rs17238691	0.92[CEU][hapmap]
rs1829543	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2414466	0.85[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.95[ASN][1000 genomes]
rs2460649	0.89[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.95[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2465405	0.96[CEU][hapmap];0.92[GIH][hapmap];0.90[MEX][hapmap];0.98[TSI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2465969	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2554287	0.92[CEU][hapmap];0.80[TSI][hapmap]
rs2584689	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2682030	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2682031	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2682032	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2682048	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2682055	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2713922	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2713934	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2713937	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2713939	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2718921	0.92[CEU][hapmap]
rs2718924	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2718947	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2725856	0.92[CEU][hapmap]
rs2947023	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35840822	0.82[EUR][1000 genomes]
rs4774852	0.85[AMR][1000 genomes]
rs4774854	0.92[CEU][hapmap]
rs56274791	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61010710	0.85[AMR][1000 genomes]
rs62044114	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6493836	0.88[ASN][1000 genomes]
rs6493844	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7163807	0.92[CEU][hapmap]
rs748344	0.92[CEU][hapmap];0.86[TSI][hapmap]
rs8032826	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8041422	0.88[CEU][hapmap];0.90[MEX][hapmap];0.89[TSI][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs894415	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833019	chr15:56486029-56649933	Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv569547	chr15:56504598-56572176	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56453600-56515000	Weak transcription	NHLF	lung
2	chr15:56459200-56511000	Weak transcription	Esophagus	oesophagus
3	chr15:56466000-56514200	Weak transcription	Duodenum Mucosa	Duodenum
4	chr15:56467000-56511600	Weak transcription	Fetal Intestine Small	intestine
5	chr15:56480200-56515400	Weak transcription	Hela-S3	cervix
6	chr15:56485600-56521200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr15:56493200-56515400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr15:56496600-56515200	Weak transcription	Left Ventricle	heart
9	chr15:56498400-56514400	Weak transcription	NHEK	skin
10	chr15:56498400-56515200	Weak transcription	HUVEC	blood vessel
11	chr15:56500600-56513000	Weak transcription	HMEC	breast
12	chr15:56500600-56515200	Weak transcription	Ovary	ovary
13	chr15:56500800-56514400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr15:56500800-56515200	Weak transcription	Thymus	Thymus
15	chr15:56501600-56511800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr15:56502400-56514600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr15:56504000-56509000	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr15:56504200-56515200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr15:56504600-56511800	Weak transcription	Fetal Kidney	kidney
20	chr15:56504800-56510800	Weak transcription	HSMM	muscle
21	chr15:56504800-56511600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr15:56504800-56511800	Weak transcription	K562	blood
23	chr15:56504800-56515200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr15:56505000-56515200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr15:56505600-56513600	Weak transcription	Brain Anterior Caudate	brain
26	chr15:56505600-56514400	Weak transcription	HepG2	liver
27	chr15:56505800-56511600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr15:56505800-56514800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr15:56506000-56514200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr15:56506200-56510600	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr15:56506400-56510600	Weak transcription	Primary hematopoietic stem cells	blood
32	chr15:56506400-56511600	Weak transcription	Fetal Lung	lung
33	chr15:56506400-56514400	Weak transcription	Dnd41	blood
34	chr15:56507200-56508800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr15:56507200-56510200	Enhancers	NH-A	brain
36	chr15:56507600-56508800	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr15:56507600-56509000	Enhancers	Osteobl	bone
38	chr15:56507600-56509200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr15:56507600-56509200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr15:56507800-56509000	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr15:56507800-56509000	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr15:56508000-56508800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr15:56508000-56508800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr15:56508000-56534400	Weak transcription	Fetal Heart	heart
45	chr15:56508200-56508800	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr15:56508200-56508800	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr15:56508200-56508800	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr15:56508200-56511600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr15:56508200-56512800	Weak transcription	Primary T cells from cord blood	blood
50	chr15:56508200-56515400	Weak transcription	Fetal Thymus	thymus

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