Variant report

Variant	rs11630916
Chromosome Location	chr15:77821331-77821332
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:77811694..77814314-chr15:77820121..77822806,2	K562	blood:
2	chr15:77819974..77827062-chr15:77831334..77836599,8	MCF-7	breast:
3	chr15:77809090..77810825-chr15:77820022..77822006,2	MCF-7	breast:
4	chr15:77819703..77822055-chr15:77824303..77826129,2	MCF-7	breast:

Extended variants
information (count: 90 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs11630540	0.93[ASN][1000 genomes]
rs11630557	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11630926	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11631274	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11632602	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11634174	1.00[CEU][hapmap];0.92[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11635567	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11635606	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11636529	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11639293	1.00[CEU][hapmap];0.92[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12898370	1.00[CEU][hapmap];0.83[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12898656	1.00[CEU][hapmap];0.82[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12899390	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12901100	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12901338	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12901471	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12901732	0.96[CEU][hapmap];0.92[CHB][hapmap];0.90[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12901765	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12901998	0.93[ASN][1000 genomes]
rs12902072	0.88[CEU][hapmap];0.84[CHB][hapmap];0.83[JPT][hapmap]
rs12902379	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12902698	1.00[CEU][hapmap];0.90[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12902852	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12902896	1.00[CEU][hapmap];0.82[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12902898	0.88[CEU][hapmap];0.84[CHB][hapmap];0.84[JPT][hapmap]
rs12902912	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12902925	0.92[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12904212	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12904254	1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12904348	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12904584	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12904709	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12904823	0.87[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12909292	0.88[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12909645	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12909808	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12910512	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12910513	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12910594	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12910951	1.00[CEU][hapmap];0.82[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12910975	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12911649	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12911854	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12911963	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12912386	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12914098	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12914932	0.88[CEU][hapmap];0.92[CHB][hapmap];0.91[JPT][hapmap];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12915548	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12916515	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12916642	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12916682	1.00[CEU][hapmap];0.82[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12916822	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12916833	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12916973	1.00[CEU][hapmap];0.82[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12917044	0.88[CEU][hapmap];0.84[JPT][hapmap]
rs12917175	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12917314	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17394732	0.88[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34020536	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34829483	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35284122	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35577135	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59418918	0.93[ASN][1000 genomes]
rs62007348	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62007350	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62009067	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62009069	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62009071	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62009087	0.93[ASN][1000 genomes]
rs7176307	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7176875	0.94[ASN][1000 genomes]
rs7180732	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7181283	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8025968	0.88[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8027056	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8032405	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8033067	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8033654	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8040318	1.00[CEU][hapmap];0.82[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8040702	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8041398	0.93[ASN][1000 genomes]
rs8041520	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8042307	1.00[CEU][hapmap];0.82[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040852	chr15:77160237-78137541	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv916323	chr15:77485765-78121259	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1043284	chr15:77740632-77884026	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv570139	chr15:77762493-77865459	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv570140	chr15:77787469-77851535	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv833060	chr15:77816654-78035204	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	esv1806097	chr15:77817889-78301377	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11630916	RP11-307C19.1	cis	Heart Left Ventricle	GTEx

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:77801600-77821400	Weak transcription	Pancreas	Pancrea
2	chr15:77808600-77821400	Weak transcription	Brain Anterior Caudate	brain
3	chr15:77816400-77823400	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr15:77817200-77824000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr15:77817600-77822600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr15:77817600-77822600	Enhancers	Fetal Stomach	stomach
7	chr15:77817600-77824800	Enhancers	Placenta	Placenta
8	chr15:77817800-77823400	Enhancers	Fetal Muscle Trunk	muscle
9	chr15:77817800-77824200	Enhancers	Fetal Muscle Leg	muscle
10	chr15:77818000-77821400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr15:77818600-77822200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr15:77818600-77823400	Enhancers	Fetal Intestine Large	intestine
13	chr15:77818800-77821400	Enhancers	Fetal Intestine Small	intestine
14	chr15:77818800-77821600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr15:77818800-77822000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr15:77818800-77822400	Enhancers	Fetal Lung	lung
17	chr15:77818800-77822800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr15:77819000-77822000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr15:77819000-77822000	Enhancers	Fetal Heart	heart
20	chr15:77819000-77822200	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr15:77819200-77821400	Enhancers	Adipose Nuclei	Adipose
22	chr15:77819200-77821600	Enhancers	Left Ventricle	heart
23	chr15:77819200-77822400	Enhancers	H1 Cell Line	embryonic stem cell
24	chr15:77819200-77822400	Enhancers	Ovary	ovary
25	chr15:77819400-77821600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr15:77819400-77821800	Enhancers	Fetal Kidney	kidney
27	chr15:77819400-77822000	Enhancers	Right Ventricle	heart
28	chr15:77819400-77822200	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr15:77819400-77822600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr15:77819400-77822800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr15:77819600-77822400	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr15:77819600-77828600	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr15:77819800-77821600	Enhancers	Lung	lung
34	chr15:77819800-77822400	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr15:77819800-77831000	Weak transcription	Gastric	stomach
36	chr15:77820000-77821400	Enhancers	Brain Hippocampus Middle	brain
37	chr15:77820000-77822000	Enhancers	Right Atrium	heart
38	chr15:77820200-77823600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr15:77820400-77821400	Enhancers	Brain Germinal Matrix	brain
40	chr15:77820400-77822400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr15:77820600-77821800	Enhancers	HepG2	liver
42	chr15:77820600-77822400	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr15:77820600-77823000	Weak transcription	Duodenum Mucosa	Duodenum
44	chr15:77820600-77823200	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr15:77820800-77821600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr15:77820800-77821600	Enhancers	Fetal Brain Male	brain
47	chr15:77820800-77821800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr15:77820800-77826200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr15:77821000-77825600	Weak transcription	Fetal Brain Female	brain
50	chr15:77821000-77825800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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