Variant report

Variant	rs1591913
Chromosome Location	chr6:28351728-28351729
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:28302793..28305456-chr6:28347856..28351806,3	MCF-7	breast:
2	chr6:28323567..28324315-chr6:28351035..28351835,2	MCF-7	breast:
3	chr6:28302573..28306599-chr6:28349951..28354470,6	K562	blood:
4	chr6:28316530..28318158-chr6:28350135..28352700,2	K562	blood:
5	chr6:27858275..27861219-chr6:28349730..28352798,3	MCF-7	breast:
6	chr6:28042414..28044265-chr6:28350613..28353294,2	K562	blood:
7	chr6:28189695..28192033-chr6:28349571..28352462,4	K562	blood:
8	chr6:27859465..27861090-chr6:28351157..28352899,2	K562	blood:
9	chr6:28318312..28320612-chr6:28351068..28352730,2	K562	blood:
10	chr6:28189695..28193201-chr6:28349960..28353387,4	K562	blood:
11	chr6:28329825..28331904-chr6:28351268..28353364,2	K562	blood:
12	chr6:28108157..28110474-chr6:28351204..28353237,2	K562	blood:
13	chr6:28187201..28188726-chr6:28351715..28353985,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000198315	Chromatin interaction
ENSG00000235109	Chromatin interaction
ENSG00000197153	Chromatin interaction
ENSG00000189298	Chromatin interaction
ENSG00000233224	Chromatin interaction
ENSG00000196331	Chromatin interaction
ENSG00000137185	Chromatin interaction

Extended variants
information (count: 88 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs1005127	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1054372	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1124131	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11751693	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11752496	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11752919	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11754208	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11755942	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11760133	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12697938	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13201726	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13201753	0.94[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap]
rs13207208	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs13210866	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13215476	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1339898	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13437294	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1361385	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1416918	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1558205	0.96[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16894021	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16894060	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16894095	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16894108	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1997660	0.83[CEU][hapmap]
rs2027361	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2041230	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2071965	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs213228	0.91[CEU][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2531804	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs28360638	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34513104	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34924864	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35191424	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35560946	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35599905	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36018474	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3734563	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3800328	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4254981	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4357130	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4580862	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4642462	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs66542396	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs67211468	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6899389	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6899603	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6903535	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6907950	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6908137	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6917130	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6922169	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6922374	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6922429	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6927229	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6928773	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6929825	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6939966	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs707907	0.83[CEU][hapmap]
rs740621	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs740622	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7451726	0.84[ASN][1000 genomes]
rs7740351	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7749736	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7754960	0.80[YRI][hapmap]
rs7759191	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7764722	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7764737	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7773051	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7775132	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs853683	0.83[CEU][hapmap]
rs853690	0.83[CEU][hapmap]
rs853693	0.83[CEU][hapmap]
rs9461455	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9461456	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9461458	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9461459	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9468333	0.83[CEU][hapmap]
rs9468354	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9468355	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9468357	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9468360	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9468361	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9468365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9468366	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9468367	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9468368	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9468370	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs1591913	RP5-874C20.3	cis	Nerve Tibial	GTEx
rs1591913	ZSCAN31	cis	lung	GTEx
rs1591913	RP5-874C20.3	cis	Thyroid	GTEx
rs1591913	AL022393.7	cis	Muscle Skeletal	GTEx
rs1591913	RP5-874C20.3	cis	Esophagus Muscularis	GTEx
rs1591913	ZSCAN12	Cis_1M	lymphoblastoid	RTeQTL
rs1591913	ZSCAN31	cis	Nerve Tibial	GTEx
rs1591913	ZSCAN31	cis	Thyroid	GTEx
rs1591913	AL022393.7	cis	Heart Left Ventricle	GTEx
rs1591913	BTN3A2	Cis_chr	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28324400-28357200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr6:28324400-28357600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr6:28324600-28358600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr6:28345000-28361600	Strong transcription	Dnd41	blood
5	chr6:28348400-28357800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:28350400-28351800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr6:28350400-28351800	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr6:28350400-28353600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr6:28350400-28357600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr6:28350400-28358200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr6:28350400-28358200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr6:28350600-28351800	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr6:28350600-28351800	Active TSS	H1 Cell Line	embryonic stem cell
14	chr6:28350600-28351800	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr6:28350600-28351800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr6:28350600-28351800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr6:28350600-28351800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr6:28350600-28351800	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr6:28350600-28351800	Active TSS	Rectal Smooth Muscle	rectum
20	chr6:28350600-28351800	Active TSS	Stomach Smooth Muscle	stomach
21	chr6:28350600-28352000	Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr6:28350800-28351800	Active TSS	H9 Cell Line	embryonic stem cell
23	chr6:28350800-28351800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr6:28350800-28351800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr6:28350800-28351800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
26	chr6:28350800-28351800	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr6:28350800-28351800	Active TSS	Left Ventricle	heart
28	chr6:28350800-28351800	Active TSS	Rectal Mucosa Donor 31	rectum
29	chr6:28350800-28351800	Active TSS	NHDF-Ad	bronchial
30	chr6:28350800-28352000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr6:28350800-28352000	Flanking Active TSS	GM12878-XiMat	blood
32	chr6:28350800-28352400	Transcr. at gene 5' and 3'	K562	blood
33	chr6:28351000-28351800	Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr6:28351000-28351800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr6:28351000-28351800	Active TSS	Brain Inferior Temporal Lobe	brain
36	chr6:28351000-28351800	Active TSS	Colon Smooth Muscle	Colon
37	chr6:28351200-28351800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr6:28351200-28351800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr6:28351200-28351800	Flanking Active TSS	HMEC	breast
40	chr6:28351200-28351800	Flanking Active TSS	NHEK	skin
41	chr6:28351200-28358000	Weak transcription	Small Intestine	intestine
42	chr6:28351200-28358200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr6:28351400-28351800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr6:28351400-28351800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr6:28351400-28351800	Flanking Active TSS	Duodenum Mucosa	Duodenum
46	chr6:28351400-28351800	Flanking Active TSS	Fetal Intestine Small	intestine
47	chr6:28351400-28351800	Flanking Active TSS	NH-A	brain
48	chr6:28351400-28352000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr6:28351400-28354800	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr6:28351400-28357000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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