Variant report

Variant	rs2703618
Chromosome Location	chr15:57339463-57339464
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	chr15:57333982..57335700-chr15:57337723..57339646,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1652733	1.00[AMR][1000 genomes]
rs213154	1.00[AMR][1000 genomes]
rs2243575	0.82[AFR][1000 genomes]
rs2430963	1.00[AMR][1000 genomes]
rs2435898	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2435900	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2435901	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2435902	1.00[AMR][1000 genomes]
rs2435904	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2439923	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2543676	1.00[AMR][1000 genomes]
rs2566839	1.00[AMR][1000 genomes]
rs2566841	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2566847	0.88[AFR][1000 genomes]
rs2566852	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2585074	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2585085	0.82[AFR][1000 genomes]
rs2585092	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2585095	0.82[AFR][1000 genomes]
rs2585096	1.00[AMR][1000 genomes]
rs2585100	1.00[AMR][1000 genomes]
rs2585101	0.82[AFR][1000 genomes]
rs2585109	0.88[AFR][1000 genomes]
rs2585111	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2585119	1.00[AMR][1000 genomes]
rs2585122	1.00[AMR][1000 genomes]
rs2593224	1.00[AMR][1000 genomes]
rs2593227	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2593240	1.00[AMR][1000 genomes]
rs2615234	0.82[AFR][1000 genomes]
rs2615248	1.00[AMR][1000 genomes]
rs2703591	1.00[AMR][1000 genomes]
rs2703603	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2703606	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2703609	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2703622	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2733169	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2733173	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2733175	0.88[AFR][1000 genomes]
rs2733186	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2733190	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2733193	1.00[AMR][1000 genomes]
rs2733196	1.00[AMR][1000 genomes]
rs2733344	1.00[AMR][1000 genomes]
rs2920271	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042486	chr15:57094598-57505992	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv542393	chr15:57115116-57341363	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1052052	chr15:57232111-57344561	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv542394	chr15:57232111-57344561	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv904251	chr15:57241970-57575916	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57311000-57347000	Weak transcription	Fetal Intestine Large	intestine
2	chr15:57316400-57345400	Weak transcription	Fetal Intestine Small	intestine
3	chr15:57324200-57341200	Weak transcription	Fetal Stomach	stomach
4	chr15:57324400-57341200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr15:57324400-57349200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr15:57324600-57355800	Weak transcription	Primary B cells from cord blood	blood
7	chr15:57324600-57398600	Weak transcription	Fetal Muscle Leg	muscle
8	chr15:57324800-57347200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr15:57324800-57349400	Weak transcription	Right Ventricle	heart
10	chr15:57326400-57341000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr15:57328200-57353600	Weak transcription	Pancreas	Pancrea
12	chr15:57328400-57341200	Weak transcription	Ovary	ovary
13	chr15:57328400-57343800	Weak transcription	Small Intestine	intestine
14	chr15:57328400-57345800	Weak transcription	Left Ventricle	heart
15	chr15:57328600-57355000	Weak transcription	Dnd41	blood
16	chr15:57329800-57349600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr15:57329800-57351400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr15:57330400-57343400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr15:57331800-57341200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr15:57332000-57345200	Weak transcription	HepG2	liver
21	chr15:57332000-57346000	Weak transcription	Primary hematopoietic stem cells	blood
22	chr15:57332000-57349200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr15:57332000-57349400	Weak transcription	Thymus	Thymus
24	chr15:57332000-57355800	Weak transcription	Primary B cells from peripheral blood	blood
25	chr15:57332800-57343800	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr15:57332800-57345800	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr15:57333200-57341200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr15:57333400-57349400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr15:57334000-57341000	Weak transcription	NH-A	brain
30	chr15:57334000-57345000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr15:57334000-57346000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr15:57334000-57346200	Weak transcription	Rectal Smooth Muscle	rectum
33	chr15:57334200-57343600	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr15:57335000-57347400	Weak transcription	Lung	lung
35	chr15:57335200-57341400	Weak transcription	Fetal Kidney	kidney
36	chr15:57335200-57341600	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr15:57335400-57349000	Weak transcription	NHEK	skin
38	chr15:57335600-57345400	Weak transcription	HUVEC	blood vessel
39	chr15:57335800-57343400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr15:57336200-57339600	Enhancers	Primary T cells from cord blood	blood
41	chr15:57336400-57341400	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr15:57336400-57345000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr15:57336600-57349200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr15:57336600-57371800	Weak transcription	K562	blood
45	chr15:57336800-57346000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr15:57336800-57349000	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr15:57337000-57341800	Strong transcription	Fetal Thymus	thymus
48	chr15:57337200-57340800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr15:57337200-57340800	Weak transcription	Osteobl	bone
50	chr15:57337200-57345800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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