Variant report

Variant	rs1030889
Chromosome Location	chr15:74737949-74737950
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:74735172..74738041-chr15:74740466..74742650,4	K562	blood:
2	chr15:74735765..74738345-chr15:74742759..74744562,2	K562	blood:
3	chr15:74734787..74738096-chr15:74738191..74740451,3	K562	blood:
4	chr15:74724929..74726985-chr15:74737428..74739824,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138629	Chromatin interaction
ENSG00000138623	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10459648	0.83[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap]
rs1078011	0.84[ASN][1000 genomes]
rs10851871	0.85[JPT][hapmap]
rs10851873	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap]
rs11072492	0.83[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap]
rs11072493	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs11072494	0.84[CHD][hapmap];0.95[JPT][hapmap]
rs11072495	0.83[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap]
rs11072496	0.82[CHD][hapmap];0.91[JPT][hapmap]
rs11629749	0.83[CHB][hapmap];0.84[CHD][hapmap];0.86[JPT][hapmap]
rs11629946	0.83[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap]
rs11852291	0.82[ASN][1000 genomes]
rs11854461	0.83[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs12439113	0.95[CHB][hapmap];0.94[JPT][hapmap]
rs12440645	0.82[ASN][1000 genomes]
rs12440654	0.82[ASN][1000 genomes]
rs12441932	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs12442097	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs16969247	0.83[CHB][hapmap];0.95[JPT][hapmap]
rs16969393	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1866113	0.83[CHB][hapmap];0.84[CHD][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs2012008	0.84[ASN][1000 genomes]
rs2068982	0.82[CHB][hapmap];0.82[CHD][hapmap];0.91[JPT][hapmap]
rs2289187	0.83[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs2289188	0.83[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs2415242	0.83[CHB][hapmap];0.82[CHD][hapmap];0.95[JPT][hapmap]
rs3985310	0.83[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs4372642	0.81[ASN][1000 genomes]
rs4468560	0.82[ASN][1000 genomes]
rs4886601	0.83[CHB][hapmap];0.84[CHD][hapmap];0.82[JPT][hapmap]
rs4887147	0.84[ASN][1000 genomes]
rs4887148	0.81[ASN][1000 genomes]
rs4887149	0.81[ASN][1000 genomes]
rs4887150	0.83[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs4887151	0.82[CHB][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs4887154	0.83[CHB][hapmap];0.95[JPT][hapmap]
rs4887159	0.83[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap]
rs4887163	0.83[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap]
rs4887166	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs6495101	0.82[ASN][1000 genomes]
rs6495105	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs6495106	0.83[CHB][hapmap];0.95[JPT][hapmap]
rs6495116	0.83[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap]
rs6495117	0.82[CHB][hapmap];0.84[CHD][hapmap];0.91[JPT][hapmap]
rs6495118	0.83[CHB][hapmap];0.84[CHD][hapmap];0.91[JPT][hapmap]
rs7163775	0.83[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs7166701	0.83[CHB][hapmap];0.82[CHD][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs7169985	0.82[ASN][1000 genomes]
rs7171838	0.83[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap]
rs7178568	0.83[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap]
rs8023479	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs8026923	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs8027066	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs8028430	0.83[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap]
rs8029116	0.83[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap]
rs8029215	0.83[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap]
rs8036030	0.86[JPT][hapmap]
rs8037211	0.83[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs8039977	0.83[ASN][1000 genomes]
rs9635320	0.83[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74726800-74738600	Weak transcription	Fetal Lung	lung
2	chr15:74726800-74740200	Weak transcription	A549	lung
3	chr15:74726800-74752800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr15:74727200-74740600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr15:74727200-74747200	Weak transcription	NHDF-Ad	bronchial
6	chr15:74727600-74739400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr15:74731200-74738200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr15:74731200-74741200	Weak transcription	HMEC	breast
9	chr15:74733800-74745600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr15:74735200-74741400	Weak transcription	Psoas Muscle	Psoas
11	chr15:74735200-74752600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr15:74735400-74739400	Weak transcription	Fetal Kidney	kidney
13	chr15:74735600-74751200	Strong transcription	Thymus	Thymus
14	chr15:74735800-74742000	Weak transcription	K562	blood
15	chr15:74735800-74743200	Weak transcription	Fetal Heart	heart
16	chr15:74735800-74745800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr15:74736000-74738200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr15:74736000-74738200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr15:74736000-74739200	Weak transcription	NH-A	brain
20	chr15:74736000-74740000	Weak transcription	Stomach Mucosa	stomach
21	chr15:74736000-74740400	Weak transcription	Small Intestine	intestine
22	chr15:74736000-74741400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr15:74736000-74745600	Strong transcription	GM12878-XiMat	blood
24	chr15:74736000-74752400	Weak transcription	Fetal Brain Male	brain
25	chr15:74736200-74739400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr15:74736200-74751200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr15:74736400-74751400	Strong transcription	Fetal Muscle Leg	muscle
28	chr15:74736600-74745000	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr15:74736600-74745000	Strong transcription	Aorta	Aorta
30	chr15:74736600-74745600	Strong transcription	Right Ventricle	heart
31	chr15:74736600-74745800	Strong transcription	Fetal Thymus	thymus
32	chr15:74736600-74746000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr15:74736600-74746200	Strong transcription	Primary T cells from cord blood	blood
34	chr15:74736600-74746400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr15:74736600-74746400	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr15:74736600-74746400	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr15:74736600-74746400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr15:74736600-74746600	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr15:74736600-74747800	Strong transcription	Fetal Brain Female	brain
40	chr15:74736600-74749800	Strong transcription	Skeletal Muscle Female	skeletal muscle
41	chr15:74736600-74751000	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr15:74736600-74751200	Strong transcription	Fetal Intestine Small	intestine
43	chr15:74736600-74751400	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr15:74736600-74751400	Strong transcription	Fetal Stomach	stomach
45	chr15:74736800-74738200	Genic enhancers	Spleen	Spleen
46	chr15:74736800-74743600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr15:74736800-74743600	Strong transcription	Placenta Amnion	Placenta Amnion
48	chr15:74736800-74743800	Strong transcription	Pancreas	Pancrea
49	chr15:74736800-74744000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr15:74736800-74744200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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