Variant report

Variant	rs17633107
Chromosome Location	chr15:39888281-39888282
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:27 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:39887671-39889275	HepG2	liver:	n/a	n/a
2	POLR2A	chr15:39887532-39889262	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr15:39887572-39888998	HepG2	liver:	n/a	n/a
4	POLR2A	chr15:39870897-39892463	HUVEC	blood vessel:	n/a	n/a
5	CHD1	chr15:39871089-39893027	IMR90	lung:	n/a	chr15:39872910-39872920
6	POLR2A	chr15:39872827-39889306	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr15:39887692-39889213	HepG2	liver:	n/a	n/a
8	POLR2A	chr15:39887473-39888568	HUVEC	blood vessel:	n/a	n/a
9	USF2	chr15:39887856-39888282	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr15:39888057-39889104	PBDE	blood:	n/a	n/a
11	POLR2A	chr15:39871636-39892218	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr15:39871327-39893495	HUVEC	blood vessel:	n/a	n/a
13	POLR2A	chr15:39887322-39891967	MCF-7	breast:	n/a	n/a
14	POLR2A	chr15:39888129-39888428	HepG2	liver:	n/a	n/a
15	GATA2	chr15:39888196-39888936	HUVEC	blood vessel:	n/a	n/a
16	POLR2A	chr15:39870574-39892778	HUVEC	blood vessel:	n/a	n/a
17	MAFK	chr15:39888153-39888395	IMR90	lung:	n/a	n/a
18	POLR2A	chr15:39871778-39892493	ProgFib	skin:	n/a	n/a
19	POLR2A	chr15:39871484-39892179	HUVEC	blood vessel:	n/a	n/a
20	POLR2A	chr15:39888191-39888415	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr15:39871294-39893132	IMR90	lung:	n/a	n/a
22	POLR2A	chr15:39887688-39888309	HepG2	liver:	n/a	n/a
23	POLR2A	chr15:39887720-39888564	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr15:39887700-39889084	A549	lung:	n/a	n/a
25	GATA3	chr15:39888058-39889104	SK-N-SH	brain:	n/a	n/a
26	POLR2A	chr15:39887685-39889294	SK-N-SH	brain:	n/a	n/a
27	POLR2A	chr15:39870624-39892458	HUVEC	blood vessel:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:39888267..39889233-chr15:39960437..39961272,3	MCF-7	breast:
2	chr15:39888268..39889233-chr15:39960410..39961213,3	MCF-7	breast:
3	chr15:39885481..39888433-chr15:39892783..39894545,2	K562	blood:
4	chr15:39888232..39889117-chr15:39960523..39961284,6	MCF-7	breast:
5	chr15:39886322..39888433-chr15:39891587..39894545,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000259279	TF binding region
ENSG00000150667	Chromatin interaction

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10152903	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10152951	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1038097	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1051442	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10520141	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10520143	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10520146	0.92[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes]
rs10520147	1.00[CHB][hapmap]
rs10520148	1.00[CHB][hapmap]
rs1073675	1.00[CHB][hapmap]
rs12438058	1.00[ASN][1000 genomes]
rs12442155	1.00[ASN][1000 genomes]
rs12442221	1.00[ASN][1000 genomes]
rs1382443	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1382444	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16969143	1.00[ASN][1000 genomes]
rs16969167	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs16969487	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16969491	0.88[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16969547	1.00[CHB][hapmap];0.82[EUR][1000 genomes]
rs16969663	1.00[CHB][hapmap]
rs16969664	1.00[CHB][hapmap]
rs16969666	1.00[CHB][hapmap]
rs16969672	1.00[CHB][hapmap]
rs16969679	1.00[CHB][hapmap]
rs16969680	1.00[CHB][hapmap]
rs16969688	1.00[CHB][hapmap]
rs17631807	1.00[ASN][1000 genomes]
rs17632916	1.00[CEU][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17633210	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17702987	1.00[ASN][1000 genomes]
rs17705806	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17706083	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17706179	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1813493	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1988082	0.83[EUR][1000 genomes]
rs1988555	0.86[EUR][1000 genomes]
rs1994380	1.00[CHB][hapmap]
rs2129457	1.00[CHB][hapmap]
rs2228262	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2228263	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2411316	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2618156	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2618160	0.93[EUR][1000 genomes]
rs2618161	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2618164	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs2618165	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs2618166	1.00[ASN][1000 genomes]
rs2618167	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2664123	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2664136	0.92[EUR][1000 genomes]
rs2664137	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2664138	0.92[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes]
rs2664140	0.93[EUR][1000 genomes]
rs2664142	0.93[EUR][1000 genomes]
rs28377784	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28549326	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28619289	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28622135	1.00[ASN][1000 genomes]
rs28653011	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34878675	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35275624	1.00[ASN][1000 genomes]
rs41315060	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4415979	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4503768	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs45461294	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4923835	0.92[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58188999	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59578395	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs59628570	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62002368	1.00[ASN][1000 genomes]
rs62002377	1.00[ASN][1000 genomes]
rs62002378	1.00[ASN][1000 genomes]
rs62002379	1.00[ASN][1000 genomes]
rs62002380	1.00[ASN][1000 genomes]
rs62002384	1.00[ASN][1000 genomes]
rs6492905	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7172155	1.00[CHB][hapmap]
rs7173948	1.00[CHB][hapmap]
rs7179604	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7181354	1.00[CHB][hapmap]
rs7182423	1.00[CHB][hapmap]
rs74008526	1.00[ASN][1000 genomes]
rs74008647	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74008648	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8041266	1.00[CHB][hapmap]
rs880270	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs937961	1.00[CHB][hapmap]
rs937962	1.00[CHB][hapmap]
rs954152	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9972350	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.93[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	nsv1049682	chr15:39657279-40027403	Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv542361	chr15:39657279-40027403	Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv3373125	chr15:39691567-40061262	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv904094	chr15:39738006-39976057	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv832977	chr15:39817512-39981520	Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv1048628	chr15:39877498-39940104	Enhancers Genic enhancers Strong transcription ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv1502	chr15:39884314-39928968	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:39874800-39889200	Weak transcription	Brain Substantia Nigra	brain
2	chr15:39875000-39889400	Weak transcription	Brain Anterior Caudate	brain
3	chr15:39875200-39888400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr15:39875200-39889800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr15:39875600-39889000	Strong transcription	H1 Cell Line	embryonic stem cell
6	chr15:39875600-39890200	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr15:39875600-39890400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr15:39875800-39889600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
9	chr15:39876000-39888600	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr15:39876200-39890200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr15:39876200-39890400	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr15:39877200-39890400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr15:39877800-39888600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr15:39878000-39888400	Strong transcription	Left Ventricle	heart
15	chr15:39878000-39890200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr15:39878200-39888400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr15:39878400-39888400	Strong transcription	NHEK	skin
18	chr15:39878600-39888400	Strong transcription	HepG2	liver
19	chr15:39878600-39888800	Strong transcription	Placenta Amnion	Placenta Amnion
20	chr15:39879000-39888800	Strong transcription	Fetal Muscle Leg	muscle
21	chr15:39879200-39888400	Strong transcription	Adipose Nuclei	Adipose
22	chr15:39879200-39888400	Strong transcription	Fetal Lung	lung
23	chr15:39879800-39889400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr15:39880200-39889400	ZNF genes & repeats	Fetal Intestine Large	intestine
25	chr15:39880800-39888600	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr15:39880800-39890200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr15:39881000-39888800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr15:39881400-39888400	Strong transcription	Right Ventricle	heart
29	chr15:39881400-39888800	Strong transcription	Liver	Liver
30	chr15:39881400-39889200	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr15:39882000-39889800	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr15:39882200-39888400	Strong transcription	Fetal Muscle Trunk	muscle
33	chr15:39882200-39889800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr15:39883000-39889000	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr15:39883400-39888400	Strong transcription	Fetal Brain Female	brain
36	chr15:39883600-39888400	Strong transcription	Rectal Smooth Muscle	rectum
37	chr15:39884400-39889400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr15:39884800-39890600	Genic enhancers	Rectal Mucosa Donor 31	rectum
39	chr15:39885200-39891000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr15:39885400-39888800	Strong transcription	HSMMtube	muscle
41	chr15:39885800-39888400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr15:39885800-39888400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr15:39886000-39888600	Genic enhancers	A549	lung
44	chr15:39886000-39889400	Weak transcription	Stomach Mucosa	stomach
45	chr15:39886000-39889800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr15:39886000-39889800	Weak transcription	Fetal Intestine Small	intestine
47	chr15:39886200-39889600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr15:39886400-39889000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr15:39886400-39890800	Weak transcription	Aorta	Aorta
50	chr15:39886600-39889800	Weak transcription	Gastric	stomach

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