Variant report

Variant	rs750608
Chromosome Location	chr15:74734615-74734616
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:74657830..74660089-chr15:74733832..74736054,2	K562	blood:
2	chr15:74665832..74668344-chr15:74734420..74737401,2	K562	blood:
3	chr15:74732394..74736809-chr15:74750471..74755462,8	K562	blood:
4	chr15:74724633..74727188-chr15:74734244..74737111,3	K562	blood:
5	chr15:74733398..74735812-chr15:74752972..74755032,2	MCF-7	breast:
6	chr15:74724757..74727598-chr15:74733682..74735923,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000140459	Chromatin interaction
ENSG00000138623	Chromatin interaction
ENSG00000247240	Chromatin interaction
ENSG00000138629	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs1030888	0.87[CEU][hapmap];0.90[CHB][hapmap]
rs10459601	0.87[CEU][hapmap];0.91[CHB][hapmap];0.84[CHD][hapmap];0.92[GIH][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap]
rs10459648	0.84[CHD][hapmap];0.84[GIH][hapmap];0.91[MEX][hapmap];0.84[TSI][hapmap]
rs11072484	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11072489	0.81[LWK][hapmap]
rs11072492	0.84[CHD][hapmap];0.84[GIH][hapmap];0.86[LWK][hapmap];0.91[MEX][hapmap];0.84[TSI][hapmap]
rs11072494	0.84[CHD][hapmap];0.84[GIH][hapmap];0.84[LWK][hapmap];0.91[MEX][hapmap];0.84[TSI][hapmap]
rs11072495	0.84[CHD][hapmap];0.84[GIH][hapmap];0.91[LWK][hapmap];0.91[MEX][hapmap];0.84[TSI][hapmap]
rs11072496	0.82[CHD][hapmap]
rs11629749	0.84[CHD][hapmap]
rs11629946	0.84[CHD][hapmap];0.83[MEX][hapmap]
rs11854461	0.84[CHD][hapmap];0.84[GIH][hapmap];0.86[MEX][hapmap];0.84[TSI][hapmap]
rs11856543	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12440645	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs12441794	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12441932	0.84[TSI][hapmap]
rs12592493	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs1866113	0.84[CHD][hapmap];0.84[GIH][hapmap];0.91[MEX][hapmap];0.84[TSI][hapmap]
rs1866114	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1992145	0.85[JPT][hapmap]
rs2068982	0.82[CHD][hapmap];0.81[GIH][hapmap];0.91[MEX][hapmap];0.84[TSI][hapmap]
rs2099593	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2289187	0.84[CHD][hapmap];0.84[GIH][hapmap];0.89[LWK][hapmap];0.91[MEX][hapmap];0.89[TSI][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2415242	0.82[CHD][hapmap];0.84[GIH][hapmap];0.91[MEX][hapmap];0.84[TSI][hapmap]
rs2415243	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28362872	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28362901	0.87[AMR][1000 genomes]
rs2899826	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3985310	0.84[CHD][hapmap];0.84[GIH][hapmap];0.91[MEX][hapmap];0.84[TSI][hapmap]
rs4073149	0.87[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.92[GIH][hapmap];0.81[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs4077703	0.86[AFR][1000 genomes]
rs4548815	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4886601	0.84[CHD][hapmap];0.84[GIH][hapmap];0.86[LWK][hapmap];0.91[MEX][hapmap];0.84[TSI][hapmap];0.81[YRI][hapmap]
rs4887145	0.87[AMR][1000 genomes]
rs4887146	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4887150	0.84[CHD][hapmap];0.84[GIH][hapmap];0.91[MEX][hapmap];0.84[TSI][hapmap]
rs4887153	0.81[AFR][1000 genomes]
rs4887159	0.84[CHD][hapmap];0.84[GIH][hapmap];0.91[MEX][hapmap];0.84[TSI][hapmap]
rs4887163	0.84[CHD][hapmap];0.84[GIH][hapmap];0.89[LWK][hapmap];0.91[MEX][hapmap];0.84[TSI][hapmap]
rs56367313	0.81[AFR][1000 genomes]
rs6495103	0.83[AFR][1000 genomes]
rs6495104	0.87[CEU][hapmap];0.91[CHB][hapmap];0.84[CHD][hapmap];0.89[GIH][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6495107	0.88[AMR][1000 genomes]
rs6495112	0.87[CEU][hapmap];0.90[CHB][hapmap];0.82[CHD][hapmap];0.92[GIH][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap]
rs6495116	0.84[CHD][hapmap];0.84[GIH][hapmap];0.91[MEX][hapmap];0.84[TSI][hapmap]
rs6495117	0.84[CHD][hapmap];0.84[GIH][hapmap];0.91[MEX][hapmap];0.84[TSI][hapmap]
rs6495118	0.84[CHD][hapmap];0.84[GIH][hapmap];0.86[MEX][hapmap];0.84[TSI][hapmap]
rs6495119	0.87[CEU][hapmap];0.91[CHB][hapmap];0.82[CHD][hapmap];0.86[GIH][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap]
rs7161990	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.92[GIH][hapmap];0.86[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7163775	0.84[CHD][hapmap];0.84[GIH][hapmap];0.89[LWK][hapmap];0.91[MEX][hapmap];0.84[TSI][hapmap];0.82[YRI][hapmap];0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7166701	0.82[CHD][hapmap];0.84[GIH][hapmap];0.88[LWK][hapmap];0.91[MEX][hapmap];0.84[TSI][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7171838	0.84[CHD][hapmap];0.84[GIH][hapmap];0.84[LWK][hapmap];0.91[MEX][hapmap];0.84[TSI][hapmap]
rs7175512	0.85[CEU][hapmap];0.91[CHB][hapmap]
rs7178568	0.84[CHD][hapmap];0.83[MEX][hapmap]
rs7497036	0.87[CEU][hapmap];0.91[CHB][hapmap];0.84[CHD][hapmap];0.92[GIH][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap]
rs8023786	0.87[CEU][hapmap];0.91[CHB][hapmap]
rs8028430	0.84[CHD][hapmap];0.84[GIH][hapmap];0.91[MEX][hapmap];0.84[TSI][hapmap]
rs8029116	0.84[CHD][hapmap];0.84[GIH][hapmap];0.91[LWK][hapmap];0.91[MEX][hapmap];0.84[TSI][hapmap]
rs8029215	0.84[CHD][hapmap];0.84[GIH][hapmap];0.91[MEX][hapmap];0.84[TSI][hapmap]
rs8036616	0.87[AMR][1000 genomes]
rs8040120	1.00[CEU][hapmap];0.91[CHB][hapmap];0.84[CHD][hapmap];0.92[GIH][hapmap];0.82[LWK][hapmap];0.91[MEX][hapmap];0.85[YRI][hapmap]
rs8041068	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8041121	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8042323	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9635320	0.84[CHD][hapmap];0.84[GIH][hapmap];0.86[LWK][hapmap];0.91[MEX][hapmap];0.84[TSI][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	nsv482615	chr15:74593625-74757962	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
2	nsv542433	chr15:74714265-74745033	Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	esv1809847	chr15:74734500-74948063	Genic enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74726200-74736800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr15:74726400-74737200	Weak transcription	Hela-S3	cervix
3	chr15:74726800-74736800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr15:74726800-74737400	Weak transcription	Esophagus	oesophagus
5	chr15:74726800-74738600	Weak transcription	Fetal Lung	lung
6	chr15:74726800-74740200	Weak transcription	A549	lung
7	chr15:74726800-74752800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr15:74727000-74736600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr15:74727000-74736600	Weak transcription	Right Atrium	heart
10	chr15:74727000-74736800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr15:74727000-74736800	Weak transcription	Colon Smooth Muscle	Colon
12	chr15:74727000-74737400	Weak transcription	Lung	lung
13	chr15:74727000-74737600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr15:74727200-74735000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr15:74727200-74735200	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr15:74727200-74735400	Weak transcription	Brain Anterior Caudate	brain
17	chr15:74727200-74735600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr15:74727200-74736600	Weak transcription	Primary T cells from cord blood	blood
19	chr15:74727200-74736600	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr15:74727200-74736800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr15:74727200-74736800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr15:74727200-74737200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr15:74727200-74737200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr15:74727200-74737200	Weak transcription	Duodenum Mucosa	Duodenum
25	chr15:74727200-74737800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr15:74727200-74740600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr15:74727200-74747200	Weak transcription	NHDF-Ad	bronchial
28	chr15:74727400-74734800	Weak transcription	Brain Hippocampus Middle	brain
29	chr15:74727400-74734800	Weak transcription	Osteobl	bone
30	chr15:74727400-74735200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr15:74727400-74736800	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr15:74727400-74737000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr15:74727600-74735200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr15:74727600-74737000	Weak transcription	Brain Germinal Matrix	brain
35	chr15:74727600-74737200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr15:74727600-74739400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr15:74727800-74736600	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr15:74729000-74736800	Weak transcription	Primary hematopoietic stem cells	blood
39	chr15:74729000-74737000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr15:74729200-74736600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr15:74731000-74735200	Weak transcription	Placenta	Placenta
42	chr15:74731000-74736200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr15:74731000-74736800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr15:74731000-74737000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr15:74731200-74735000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr15:74731200-74735000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr15:74731200-74735200	Weak transcription	K562	blood
48	chr15:74731200-74735600	Weak transcription	Thymus	Thymus
49	chr15:74731200-74736600	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr15:74731200-74736600	Weak transcription	Primary T helper cells PMA-I stimulated	--

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