Variant report

Variant	rs2703609
Chromosome Location	chr15:57371479-57371480
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:57370971..57373246-chr15:57380194..57383118,2	K562	blood:
2	chr15:57370291..57372471-chr15:57379533..57381694,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1652733	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs213154	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2243575	0.93[AFR][1000 genomes]
rs2430963	1.00[AMR][1000 genomes]
rs2431031	1.00[YRI][hapmap]
rs2435898	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2435900	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2435901	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2435902	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2435904	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2439923	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2543676	1.00[AMR][1000 genomes]
rs2566839	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2566841	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2566847	0.87[AFR][1000 genomes]
rs2566852	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2585074	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2585085	0.93[AFR][1000 genomes]
rs2585092	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2585095	0.93[AFR][1000 genomes]
rs2585096	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2585098	1.00[YRI][hapmap]
rs2585100	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2585101	0.93[AFR][1000 genomes]
rs2585109	0.87[AFR][1000 genomes]
rs2585111	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2585119	1.00[AMR][1000 genomes]
rs2585122	1.00[AMR][1000 genomes]
rs2591067	1.00[YRI][hapmap]
rs2593213	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs2593214	0.81[AFR][1000 genomes]
rs2593224	1.00[AMR][1000 genomes]
rs2593227	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2593240	1.00[AMR][1000 genomes]
rs2615219	1.00[YRI][hapmap]
rs2615234	0.93[AFR][1000 genomes]
rs2615248	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2703591	1.00[AMR][1000 genomes]
rs2703603	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2703606	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2703615	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs2703618	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2703622	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2703625	0.81[AFR][1000 genomes]
rs2733169	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2733173	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2733175	0.87[AFR][1000 genomes]
rs2733186	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2733190	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2733193	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2733196	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2733301	1.00[YRI][hapmap]
rs2733308	0.87[AFR][1000 genomes]
rs2733319	1.00[YRI][hapmap]
rs2733338	0.87[AFR][1000 genomes]
rs2733344	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2920271	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8042069	1.00[YRI][hapmap]

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	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	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
3	nsv1045611	chr15:57350965-58070807	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57324600-57398600	Weak transcription	Fetal Muscle Leg	muscle
2	chr15:57336600-57371800	Weak transcription	K562	blood
3	chr15:57340200-57372600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr15:57346000-57374400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr15:57347000-57373400	Weak transcription	Fetal Intestine Small	intestine
6	chr15:57347600-57373000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr15:57347600-57373200	Weak transcription	Fetal Intestine Large	intestine
8	chr15:57350400-57372400	Weak transcription	Fetal Lung	lung
9	chr15:57350400-57373400	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr15:57350400-57374000	Weak transcription	Ovary	ovary
11	chr15:57353800-57373800	Weak transcription	Left Ventricle	heart
12	chr15:57353800-57406400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr15:57354200-57384600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr15:57354600-57371600	Weak transcription	NH-A	brain
15	chr15:57355000-57374000	Weak transcription	Osteobl	bone
16	chr15:57356000-57393400	Weak transcription	Thymus	Thymus
17	chr15:57356400-57371800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr15:57356400-57373800	Weak transcription	Fetal Muscle Trunk	muscle
19	chr15:57356600-57372000	Weak transcription	Primary B cells from cord blood	blood
20	chr15:57357600-57371600	Weak transcription	HUVEC	blood vessel
21	chr15:57360200-57371800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr15:57360400-57372400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr15:57360600-57371600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr15:57362800-57384200	Weak transcription	HepG2	liver
25	chr15:57363000-57372600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr15:57363200-57371600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr15:57363800-57378200	Weak transcription	Gastric	stomach
28	chr15:57363800-57382000	Weak transcription	Right Atrium	heart
29	chr15:57365000-57371600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr15:57365200-57374200	Weak transcription	Fetal Kidney	kidney
31	chr15:57365200-57384000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr15:57365400-57371600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr15:57365400-57371800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr15:57365400-57372400	Weak transcription	Fetal Heart	heart
35	chr15:57365400-57372600	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr15:57365400-57374000	Weak transcription	NHEK	skin
37	chr15:57365600-57371600	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr15:57365600-57385200	Weak transcription	HSMM	muscle
39	chr15:57365800-57371600	Weak transcription	Colon Smooth Muscle	Colon
40	chr15:57365800-57374200	Weak transcription	A549	lung
41	chr15:57365800-57384000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr15:57367000-57371800	Weak transcription	Primary B cells from peripheral blood	blood
43	chr15:57367000-57371800	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr15:57367000-57374000	Weak transcription	Psoas Muscle	Psoas
45	chr15:57368000-57380400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr15:57370400-57372800	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr15:57370600-57372800	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr15:57370600-57373600	Enhancers	Primary T cells from cord blood	blood
49	chr15:57370800-57371600	Enhancers	Primary hematopoietic stem cells	blood
50	chr15:57370800-57371600	Weak transcription	Fetal Thymus	thymus

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