Variant report

Variant	rs10732234
Chromosome Location	chr15:72491963-72491964
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:72489503-72494887	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr15:72489689-72496123	GM12878	blood:	n/a	n/a
3	POLR2A	chr15:72491957-72492432	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr15:72491959-72492461	MCF-7	breast:	n/a	n/a
5	POLR2A	chr15:72491955-72492432	GM12878	blood:	n/a	n/a
6	REST	chr15:72491300-72492311	Hela-S3	cervix:	n/a	chr15:72491334-72491347
7	SMC3	chr15:72491267-72492509	SK-N-SH	brain:	n/a	chr15:72492213-72492227
8	POLR2A	chr15:72490228-72501294	GM12878	blood:	n/a	n/a
9	POLR2A	chr15:72491934-72492413	A549	lung:	n/a	n/a
10	POLR2A	chr15:72491959-72492479	GM12891	blood:	n/a	n/a
11	POLR2A	chr15:72490186-72491965	GM12892	blood:	n/a	n/a
12	POLR2A	chr15:72491832-72492001	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr15:72491961-72492422	GM12891	blood:	n/a	n/a
14	POLR2A	chr15:72490153-72497920	SK-N-SH	brain:	n/a	n/a
15	POLR2A	chr15:72489804-72494410	Hela-S3	cervix:	n/a	n/a
16	SIX5	chr15:72491292-72492061	H1-hESC	embryonic stem cell:	n/a	n/a
17	BCL3	chr15:72491891-72492833	A549	lung:	n/a	chr15:72492451-72492459
18	POLR2A	chr15:72489886-72496219	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr15:72488837-72501457	U87	brain:	n/a	n/a
20	POLR2A	chr15:72491784-72492401	HCT-116	colon:	n/a	n/a
21	USF1	chr15:72491361-72492045	H1-hESC	embryonic stem cell:	n/a	n/a
22	RAD21	chr15:72491895-72492565	MCF-7	breast:	n/a	chr15:72492212-72492231
23	POLR2A	chr15:72488735-72501628	U87	brain:	n/a	n/a
24	POLR2A	chr15:72490001-72501490	GM12891	blood:	n/a	n/a
25	POLR2A	chr15:72490032-72493676	GM12878	blood:	n/a	n/a
26	CTCF	chr15:72491770-72492647	SK-N-SH	brain:	n/a	chr15:72492211-72492229 chr15:72492213-72492234 chr15:72492214-72492227 chr15:72492212-72492228
27	POLR2A	chr15:72491952-72492422	HepG2	liver:	n/a	n/a
28	POLR2A	chr15:72491953-72492479	HCT-116	colon:	n/a	n/a
29	POLR2A	chr15:72489652-72494351	K562	blood:	n/a	n/a
30	POLR2A	chr15:72489709-72492489	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr15:72488802-72501457	U87	brain:	n/a	n/a
32	POLR2A	chr15:72491944-72492427	A549	lung:	n/a	n/a
33	POLR2A	chr15:72489740-72498760	Hela-S3	cervix:	n/a	n/a
34	RAD21	chr15:72491896-72492856	SK-N-SH	brain:	n/a	chr15:72492212-72492231
35	RUNX3	chr15:72491957-72492440	GM12878	blood:	n/a	n/a
36	POLR2A	chr15:72490029-72496219	SK-N-MC	brain:	n/a	n/a
37	POLR2A	chr15:72491949-72492442	GM12878	blood:	n/a	n/a
38	POLR2A	chr15:72488729-72501598	U87	brain:	n/a	n/a
39	POLR2A	chr15:72489622-72492526	PANC-1	pancreas:	n/a	n/a
40	SIN3AK20	chr15:72491961-72492411	A549	lung:	n/a	n/a
41	POLR2A	chr15:72490000-72494038	PFSK-1	brain:	n/a	n/a
42	PML	chr15:72491947-72492440	GM12878	blood:	n/a	n/a
43	POLR2A	chr15:72490047-72491989	HL-60	blood:	n/a	n/a
44	POLR2A	chr15:72489748-72496197	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr15:72491960-72492381	A549	lung:	n/a	n/a
46	POLR2A	chr15:72488985-72497862	A549	lung:	n/a	n/a
47	TCF12	chr15:72491783-72492903	A549	lung:	n/a	chr15:72492157-72492167
48	SP1	chr15:72491313-72492273	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr15:72490148-72494246	K562	blood:	n/a	n/a
50	CTCF	chr15:72491382-72492345	T-47D	breast:	n/a	chr15:72492211-72492229 chr15:72492213-72492234 chr15:72492214-72492227 chr15:72492212-72492228

No.	Distal block	Cell Line	Cell type
1	chr15:72490633..72493001-chr15:72850995..72852624,2	K562	blood:
2	chr15:72484916..72487444-chr15:72490191..72493716,4	MCF-7	breast:
3	chr15:72489508..72492052-chr15:72496693..72498858,2	MCF-7	breast:
4	chr15:72491830..72492669-chr15:72578199..72578950,2	MCF-7	breast:
5	chr15:72409727..72411428-chr15:72491311..72493114,2	K562	blood:
6	chr15:72488199..72491266-chr15:72491481..72494588,4	MCF-7	breast:
7	chr15:72490651..72493389-chr15:72515368..72517029,2	K562	blood:
8	chr15:72487347..72489902-chr15:72491021..72493729,2	K562	blood:
9	chr15:72487407..72489902-chr15:72490450..72492521,2	K562	blood:

Variant related genes	Relation type
GRAMD2	TF binding region
ENSG00000175318	Chromatin interaction
ENSG00000066933	Chromatin interaction
ENSG00000067225	Chromatin interaction
ENSG00000166192	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs12324744	1.00[AMR][1000 genomes]
rs12902160	1.00[AMR][1000 genomes]
rs12905794	1.00[AMR][1000 genomes]
rs12905947	1.00[AMR][1000 genomes]
rs12906356	1.00[AMR][1000 genomes]
rs12906612	1.00[AMR][1000 genomes]
rs12907087	1.00[AMR][1000 genomes]
rs12907377	1.00[AMR][1000 genomes]
rs12908863	1.00[AMR][1000 genomes]
rs12909590	1.00[AMR][1000 genomes]
rs12910475	1.00[AMR][1000 genomes]
rs12910620	1.00[AMR][1000 genomes]
rs12911278	1.00[AMR][1000 genomes]
rs12911285	1.00[AMR][1000 genomes]
rs12914208	1.00[AMR][1000 genomes]
rs12914269	1.00[AMR][1000 genomes]
rs12914312	1.00[AMR][1000 genomes]
rs12915008	1.00[AMR][1000 genomes]
rs12916039	1.00[AMR][1000 genomes]
rs12916226	1.00[AMR][1000 genomes]
rs12916298	1.00[AMR][1000 genomes]
rs12917442	1.00[AMR][1000 genomes]
rs1426169	1.00[AMR][1000 genomes]
rs2288257	1.00[AMR][1000 genomes]
rs34023258	1.00[AMR][1000 genomes]
rs34346715	1.00[AMR][1000 genomes]
rs34362323	1.00[AMR][1000 genomes]
rs34382909	1.00[AMR][1000 genomes]
rs34481625	1.00[AMR][1000 genomes]
rs34505994	1.00[AMR][1000 genomes]
rs34638996	1.00[AMR][1000 genomes]
rs34658339	1.00[AMR][1000 genomes]
rs34694253	1.00[AMR][1000 genomes]
rs34705283	1.00[AMR][1000 genomes]
rs34815962	1.00[AMR][1000 genomes]
rs35061524	1.00[AMR][1000 genomes]
rs35071085	1.00[AMR][1000 genomes]
rs35104697	1.00[AMR][1000 genomes]
rs35136885	1.00[AMR][1000 genomes]
rs35144689	1.00[AMR][1000 genomes]
rs35259670	1.00[AMR][1000 genomes]
rs35285520	1.00[AMR][1000 genomes]
rs35288005	1.00[AMR][1000 genomes]
rs35362359	1.00[AMR][1000 genomes]
rs35378070	1.00[AMR][1000 genomes]
rs35408293	1.00[AMR][1000 genomes]
rs35554838	1.00[AMR][1000 genomes]
rs35836103	1.00[AMR][1000 genomes]
rs36110969	1.00[AMR][1000 genomes]
rs3743227	1.00[AMR][1000 genomes]
rs3743228	1.00[AMR][1000 genomes]
rs3743229	1.00[AMR][1000 genomes]
rs3759817	1.00[AMR][1000 genomes]
rs3759901	1.00[AMR][1000 genomes]
rs3825949	1.00[AMR][1000 genomes]
rs55935015	1.00[AMR][1000 genomes]
rs57420281	1.00[AMR][1000 genomes]
rs57692836	1.00[AMR][1000 genomes]
rs58352854	1.00[AMR][1000 genomes]
rs66608810	1.00[AMR][1000 genomes]
rs67195650	1.00[AMR][1000 genomes]
rs71395056	1.00[AMR][1000 genomes]
rs71395057	1.00[AMR][1000 genomes]
rs71395058	1.00[AMR][1000 genomes]
rs71395061	1.00[AMR][1000 genomes]
rs71395066	1.00[AMR][1000 genomes]
rs71395068	1.00[AMR][1000 genomes]
rs71395070	1.00[AMR][1000 genomes]
rs7174264	1.00[AMR][1000 genomes]
rs73438446	1.00[AMR][1000 genomes]
rs8192359	1.00[AMR][1000 genomes]
rs8192387	1.00[AMR][1000 genomes]
rs8192397	1.00[AMR][1000 genomes]
rs890312	1.00[AMR][1000 genomes]
rs9806184	1.00[AMR][1000 genomes]
rs9806204	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431395	chr15:72266174-72701777	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	nsv833051	chr15:72315471-72508429	Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv530817	chr15:72350885-72773374	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
4	esv3430860	chr15:72373723-72849907	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 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	chr15:72487600-72493600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr15:72490000-72501800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr15:72490000-72507600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr15:72490400-72492800	Weak transcription	Psoas Muscle	Psoas
5	chr15:72490400-72493200	Strong transcription	HSMMtube	muscle
6	chr15:72490400-72495200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr15:72490400-72495400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr15:72490400-72504000	Genic enhancers	A549	lung
9	chr15:72490400-72512000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr15:72490600-72492000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr15:72490600-72492600	Strong transcription	Right Ventricle	heart
12	chr15:72490600-72493400	Genic enhancers	Fetal Intestine Small	intestine
13	chr15:72490600-72493600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr15:72490600-72495000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr15:72490600-72495400	Strong transcription	NHLF	lung
16	chr15:72490600-72495600	Strong transcription	HUVEC	blood vessel
17	chr15:72490600-72497000	Genic enhancers	Stomach Smooth Muscle	stomach
18	chr15:72490600-72498400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr15:72490600-72499400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr15:72490600-72503400	Strong transcription	Primary B cells from cord blood	blood
21	chr15:72490600-72508200	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr15:72490600-72512000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr15:72490600-72513000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr15:72490600-72513200	Strong transcription	Primary B cells from peripheral blood	blood
25	chr15:72490600-72513600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr15:72490600-72513800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr15:72490600-72515600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr15:72490600-72518000	Strong transcription	Dnd41	blood
29	chr15:72490800-72492000	Strong transcription	Brain Anterior Caudate	brain
30	chr15:72490800-72492000	Strong transcription	Brain Hippocampus Middle	brain
31	chr15:72490800-72492200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr15:72490800-72492400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr15:72490800-72492400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr15:72490800-72492400	ZNF genes & repeats	Lung	lung
35	chr15:72490800-72492600	Strong transcription	Left Ventricle	heart
36	chr15:72490800-72492600	Genic enhancers	Stomach Mucosa	stomach
37	chr15:72490800-72493200	Strong transcription	NHDF-Ad	bronchial
38	chr15:72490800-72494800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr15:72490800-72495600	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr15:72490800-72495600	Strong transcription	Rectal Smooth Muscle	rectum
41	chr15:72490800-72495600	Strong transcription	Osteobl	bone
42	chr15:72490800-72495800	Strong transcription	Small Intestine	intestine
43	chr15:72490800-72497400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr15:72490800-72504400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr15:72490800-72504400	Strong transcription	Colonic Mucosa	Colon
46	chr15:72490800-72511800	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr15:72490800-72511800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr15:72490800-72511800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr15:72490800-72512200	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr15:72490800-72513000	Strong transcription	HUES64 Cell Line	embryonic stem cell

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