Variant report

Variant	rs3011624
Chromosome Location	chr13:30087146-30087147
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:30086955..30089041-chr13:30166781..30169428,2	MCF-7	breast:
2	chr13:30086183..30088447-chr13:30100578..30102906,2	K562	blood:
3	chr13:30086595..30089289-chr13:30090102..30093020,2	K562	blood:
4	chr13:30085195..30087223-chr13:30096814..30099566,2	MCF-7	breast:

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

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

rs_ID	r²[population]
rs1018680	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1124594	0.93[ASN][1000 genomes]
rs17660515	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2277452	1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2482087	1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2482089	1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2482090	1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2482091	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2482092	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2482093	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2482097	1.00[JPT][hapmap]
rs2490264	1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2490265	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2490266	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2490267	1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2490268	1.00[JPT][hapmap]
rs2776952	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2776953	1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2776955	1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2776956	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2776958	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2776960	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2776978	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2776979	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2776980	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2776981	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2776984	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2776985	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2776986	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2802240	1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2802243	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2802244	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2802245	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2802246	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2802250	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2989592	1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2989593	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2989596	0.93[ASN][1000 genomes]
rs3011619	1.00[JPT][hapmap]
rs3011620	1.00[EUR][1000 genomes]
rs3011622	1.00[EUR][1000 genomes]
rs3011623	1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3011625	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3013640	1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3013641	1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv983696	chr13:30034016-30090454	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv430551	chr13:30061100-30113000	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS 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
3	nsv899960	chr13:30064014-30097240	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv561392	chr13:30071245-30091819	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30062400-30087200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr13:30071000-30128800	Strong transcription	Dnd41	blood
3	chr13:30077800-30087800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr13:30079600-30087200	Weak transcription	HUVEC	blood vessel
5	chr13:30080000-30087200	Weak transcription	Aorta	Aorta
6	chr13:30080200-30087200	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr13:30080200-30087800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr13:30080600-30088200	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr13:30082000-30090200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr13:30082000-30106600	Weak transcription	Fetal Kidney	kidney
11	chr13:30082000-30107600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr13:30082200-30087400	Weak transcription	Primary B cells from peripheral blood	blood
13	chr13:30082200-30089800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr13:30082400-30087200	Weak transcription	NHLF	lung
15	chr13:30082800-30088800	Weak transcription	Hela-S3	cervix
16	chr13:30082800-30090000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr13:30082800-30096000	Weak transcription	Liver	Liver
18	chr13:30082800-30111600	Weak transcription	Stomach Mucosa	stomach
19	chr13:30083000-30087600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr13:30083200-30087600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr13:30083200-30087600	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr13:30083200-30088400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr13:30083200-30089400	Weak transcription	Adipose Nuclei	Adipose
24	chr13:30083200-30107200	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr13:30083400-30087400	Weak transcription	Right Ventricle	heart
26	chr13:30083400-30087600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr13:30083400-30089800	Weak transcription	Left Ventricle	heart
28	chr13:30083600-30094400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr13:30083600-30096400	Weak transcription	Small Intestine	intestine
30	chr13:30083800-30087600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr13:30084000-30087600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr13:30084000-30087800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr13:30084200-30087600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr13:30084200-30091200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr13:30084200-30091800	Strong transcription	Placenta Amnion	Placenta Amnion
36	chr13:30084200-30094800	Strong transcription	Thymus	Thymus
37	chr13:30084200-30106000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr13:30084200-30107800	Strong transcription	Esophagus	oesophagus
39	chr13:30084200-30110400	Strong transcription	Fetal Intestine Small	intestine
40	chr13:30084200-30110600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr13:30084200-30112600	Strong transcription	NHEK	skin
42	chr13:30084200-30115800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr13:30084400-30088200	Genic enhancers	Osteobl	bone
44	chr13:30084400-30111200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr13:30084600-30087800	Weak transcription	Fetal Heart	heart
46	chr13:30084600-30098000	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr13:30084600-30112200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr13:30084800-30087200	Strong transcription	Spleen	Spleen
49	chr13:30084800-30098400	Strong transcription	Gastric	stomach
50	chr13:30084800-30110400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--

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