Variant report

Variant	rs11630317
Chromosome Location	chr15:74471063-74471064
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:74462656..74465271-chr15:74469340..74471274,2	K562	blood:
2	chr15:74466900..74472644-chr15:74474380..74478364,5	K562	blood:
3	chr15:74466900..74472029-chr15:74474380..74478364,5	K562	blood:
4	chr15:74466286..74468382-chr15:74470933..74472488,2	MCF-7	breast:
5	chr15:74465289..74467713-chr15:74468699..74473006,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000129009	Chromatin interaction
ENSG00000137868	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11630924	0.85[EUR][1000 genomes]
rs11631509	0.82[EUR][1000 genomes]
rs11631944	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11639090	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11639369	0.82[CEU][hapmap];0.85[EUR][1000 genomes]
rs11854957	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11855667	0.83[CEU][hapmap];0.83[EUR][1000 genomes]
rs11857410	0.82[CEU][hapmap];0.85[EUR][1000 genomes]
rs12899173	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12907503	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12911581	0.81[EUR][1000 genomes]
rs12912258	0.82[CEU][hapmap];0.85[EUR][1000 genomes]
rs12912578	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12913041	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12915891	0.91[CEU][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13259	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2062309	0.94[EUR][1000 genomes]
rs2415169	0.91[CEU][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2899824	1.00[CEU][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34147822	0.85[EUR][1000 genomes]
rs34573746	0.85[EUR][1000 genomes]
rs34868798	0.96[EUR][1000 genomes]
rs351242	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs35255788	0.85[EUR][1000 genomes]
rs35462746	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35661273	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3848160	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3848161	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3888004	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs409856	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62003660	0.85[EUR][1000 genomes]
rs62003661	0.82[EUR][1000 genomes]
rs62005707	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62005709	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62005710	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62005711	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs71399778	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs733163	0.82[CEU][hapmap];0.85[EUR][1000 genomes]
rs8037531	0.91[CEU][hapmap];0.95[EUR][1000 genomes]
rs923118	0.91[CEU][hapmap];0.96[EUR][1000 genomes]
rs9630417	0.91[CEU][hapmap];0.94[EUR][1000 genomes]
rs971755	0.82[CEU][hapmap];0.85[EUR][1000 genomes]
rs971756	0.82[CEU][hapmap];0.85[EUR][1000 genomes]
rs971757	0.82[CEU][hapmap];0.86[EUR][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	nsv833053	chr15:74360156-74555140	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1050884	chr15:74394983-74489413	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv833054	chr15:74457643-74625283	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv904345	chr15:74458181-74526596	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv904346	chr15:74458181-74548773	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv904347	chr15:74462629-74537101	Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv904348	chr15:74462629-74542686	Genic enhancers Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74464800-74473600	Enhancers	Right Ventricle	heart
2	chr15:74465200-74472200	Weak transcription	Brain Substantia Nigra	brain
3	chr15:74465200-74473000	Enhancers	Brain Germinal Matrix	brain
4	chr15:74466000-74472000	Enhancers	Placenta	Placenta
5	chr15:74466200-74471600	Weak transcription	Brain Anterior Caudate	brain
6	chr15:74466200-74492800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr15:74466600-74473200	Enhancers	HSMMtube	muscle
8	chr15:74466600-74480600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr15:74467200-74473600	Enhancers	Right Atrium	heart
10	chr15:74467400-74471200	Weak transcription	Fetal Thymus	thymus
11	chr15:74467400-74471600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr15:74467400-74472200	Weak transcription	Pancreas	Pancrea
13	chr15:74467400-74473400	Genic enhancers	Fetal Stomach	stomach
14	chr15:74467400-74473800	Enhancers	NHDF-Ad	bronchial
15	chr15:74467600-74473200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr15:74467800-74472400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr15:74467800-74473600	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr15:74468000-74471600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr15:74468000-74472200	Weak transcription	Gastric	stomach
20	chr15:74468400-74471400	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr15:74468400-74471600	Enhancers	HSMM	muscle
22	chr15:74468400-74473400	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr15:74468400-74473600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr15:74468600-74473200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr15:74468600-74473600	Enhancers	NH-A	brain
26	chr15:74469000-74471400	Enhancers	Muscle Satellite Cultured Cells	--
27	chr15:74469000-74471400	Enhancers	Adipose Nuclei	Adipose
28	chr15:74469000-74471400	Weak transcription	Esophagus	oesophagus
29	chr15:74469000-74472200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr15:74469000-74472800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr15:74469000-74473200	Enhancers	NHLF	lung
32	chr15:74469200-74471400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr15:74469200-74471600	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr15:74469200-74471600	Enhancers	A549	lung
35	chr15:74469200-74471800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
36	chr15:74469200-74472200	Weak transcription	Colon Smooth Muscle	Colon
37	chr15:74469200-74473200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr15:74469200-74474000	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr15:74469200-74491800	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr15:74469400-74471400	Genic enhancers	Fetal Muscle Trunk	muscle
41	chr15:74469400-74487600	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr15:74469400-74493200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr15:74469600-74472200	Enhancers	Osteobl	bone
44	chr15:74469800-74471600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr15:74469800-74472200	Weak transcription	Fetal Intestine Small	intestine
46	chr15:74470000-74472600	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr15:74470000-74472600	Enhancers	Brain Angular Gyrus	brain
48	chr15:74470000-74473000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr15:74470000-74473400	Enhancers	HUVEC	blood vessel
50	chr15:74470000-74473800	Enhancers	Left Ventricle	heart

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