Variant report

Variant	rs767315
Chromosome Location	chr4:87960435-87960436
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:87960294..87962501-chr4:87964781..87966501,2	K562	blood:
2	chr4:87953334..87957046-chr4:87958598..87961763,4	K562	blood:
3	chr4:87952663..87956832-chr4:87958320..87961763,4	K562	blood:
4	chr4:87926892..87929968-chr4:87957011..87960890,5	K562	blood:
5	chr4:87960365..87962821-chr4:87965345..87969600,5	K562	blood:

Variant related genes	Relation type
ENSG00000172493	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10023056	0.84[CEU][hapmap]
rs10032244	0.84[CEU][hapmap]
rs10032710	0.89[CEU][hapmap]
rs10516785	0.84[CHB][hapmap];0.94[JPT][hapmap]
rs10516786	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs10516788	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1471251	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs151451	0.88[CEU][hapmap]
rs17012170	0.82[JPT][hapmap]
rs17012200	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs17012234	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17012334	0.80[EUR][1000 genomes]
rs17604480	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17701999	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17752307	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs1842685	0.89[CEU][hapmap]
rs2061498	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs236676	0.83[CEU][hapmap]
rs340637	0.85[CEU][hapmap]
rs340638	0.84[CEU][hapmap]
rs340642	0.85[CEU][hapmap]
rs340643	0.84[CEU][hapmap]
rs340650	0.85[CEU][hapmap]
rs3733377	0.89[CEU][hapmap]
rs3755980	0.83[CEU][hapmap]
rs4693795	0.84[CHB][hapmap];0.89[JPT][hapmap]
rs4693801	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55787557	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55816619	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55879154	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55913164	0.80[ASN][1000 genomes]
rs55982755	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56023922	0.82[ASN][1000 genomes]
rs56050898	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56201818	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56390363	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56395939	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56406125	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6819155	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6839933	0.84[CEU][hapmap]
rs6840258	0.94[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6854749	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72667747	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72667748	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72667750	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72667751	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72667752	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72667753	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72667754	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72667757	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72667759	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72667765	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7665282	0.95[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs7682652	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7695426	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9799529	0.83[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009937	chr4:87795314-88008345	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
2	nsv999176	chr4:87869996-88098136	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv998335	chr4:87869996-88104414	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1001017	chr4:87872160-88087003	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv537166	chr4:87872160-88087003	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv999098	chr4:87899091-88016048	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv537167	chr4:87899091-88016048	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv997750	chr4:87933945-88264127	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87944200-87960800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr4:87944800-87961600	Enhancers	Fetal Heart	heart
3	chr4:87949200-87961000	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr4:87949400-87960600	Enhancers	Liver	Liver
5	chr4:87949600-87960800	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr4:87949800-87960800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr4:87950200-87962600	Enhancers	Fetal Muscle Leg	muscle
8	chr4:87952400-87967000	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr4:87952600-87961000	Enhancers	K562	blood
10	chr4:87952600-87968000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr4:87952800-87961000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr4:87953000-87960800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr4:87953400-87965800	Weak transcription	Primary T cells from cord blood	blood
14	chr4:87953400-87967600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr4:87953600-87960600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr4:87953600-87961000	Enhancers	Fetal Lung	lung
17	chr4:87953800-87961600	Enhancers	Brain Substantia Nigra	brain
18	chr4:87953800-87963600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr4:87954600-87961200	Enhancers	Adipose Nuclei	Adipose
20	chr4:87954600-87961600	Enhancers	Brain Angular Gyrus	brain
21	chr4:87954600-87962200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr4:87954600-87963400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr4:87954600-87965800	Enhancers	Colon Smooth Muscle	Colon
24	chr4:87954800-87961000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr4:87955400-87960800	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr4:87955600-87962200	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr4:87955600-87962200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr4:87955600-87962400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr4:87955600-87964800	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr4:87956800-87960800	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr4:87956800-87960800	Enhancers	Primary B cells from cord blood	blood
32	chr4:87956800-87960800	Enhancers	Primary B cells from peripheral blood	blood
33	chr4:87956800-87961000	Enhancers	Fetal Kidney	kidney
34	chr4:87956800-87961600	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr4:87956800-87963000	Enhancers	Rectal Smooth Muscle	rectum
36	chr4:87957000-87960800	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr4:87957000-87962800	Enhancers	Brain Anterior Caudate	brain
38	chr4:87957200-87960600	Enhancers	Primary hematopoietic stem cells	blood
39	chr4:87957200-87961000	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr4:87957400-87960800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr4:87957400-87960800	Enhancers	Fetal Stomach	stomach
42	chr4:87957400-87961000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr4:87957400-87961000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr4:87957400-87961000	Enhancers	Osteobl	bone
45	chr4:87957600-87960800	Enhancers	Muscle Satellite Cultured Cells	--
46	chr4:87957600-87960800	Enhancers	HUVEC	blood vessel
47	chr4:87957600-87960800	Enhancers	NHLF	lung
48	chr4:87957600-87961000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr4:87957600-87961800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr4:87958000-87960800	Enhancers	HSMM	muscle

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