Variant report

Variant	rs16904183
Chromosome Location	chr8:130983869-130983870
allele	A/G
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	EP300	chr8:130983851-130984385	GM12878	blood:	n/a	chr8:130983998-130984007 chr8:130983994-130984008
2	RUNX3	chr8:130983703-130984584	GM12878	blood:	n/a	n/a
3	ELF1	chr8:130983788-130984167	GM12878	blood:	n/a	chr8:130983997-130984008 chr8:130983998-130984009
4	TBL1XR1	chr8:130983843-130984553	GM12878	blood:	n/a	n/a
5	TAF1	chr8:130983794-130984080	K562	blood:	n/a	n/a
6	FOSL1	chr8:130983856-130984141	K562	blood:	n/a	chr8:130983973-130983983 chr8:130983973-130983983
7	POLR2A	chr8:130983859-130984307	K562	blood:	n/a	n/a
8	SPI1	chr8:130983736-130984238	GM12891	blood:	n/a	chr8:130983996-130984009 chr8:130983997-130984010 chr8:130983998-130984007
9	BCLAF1	chr8:130983690-130984597	GM12878	blood:	n/a	chr8:130983997-130984006 chr8:130984217-130984226
10	ELF1	chr8:130983728-130984157	K562	blood:	n/a	chr8:130983997-130984008 chr8:130983998-130984009
11	ARID3A	chr8:130983807-130984435	K562	blood:	n/a	n/a
12	EP300	chr8:130983790-130984368	Hela-S3	cervix:	n/a	chr8:130983998-130984007 chr8:130983994-130984008
13	IRF4	chr8:130983736-130984271	GM12878	blood:	n/a	n/a
14	SMC3	chr8:130983786-130984400	Hela-S3	cervix:	n/a	n/a
15	ELF1	chr8:130983671-130984335	HCT-116	colon:	n/a	chr8:130983997-130984008 chr8:130983998-130984009
16	BATF	chr8:130983742-130984221	GM12878	blood:	n/a	chr8:130983974-130983985 chr8:130984112-130984120
17	POLR2A	chr8:130983783-130984509	K562	blood:	n/a	n/a
18	SPI1	chr8:130983519-130984565	GM12878	blood:	n/a	chr8:130983996-130984009 chr8:130983997-130984010 chr8:130983998-130984007
19	SP1	chr8:130983738-130984254	GM12878	blood:	n/a	n/a
20	HCFC1	chr8:130983722-130984309	K562	blood:	n/a	n/a
21	RCOR1	chr8:130983759-130984485	GM12878	blood:	n/a	n/a
22	CBX3	chr8:130983589-130984465	K562	blood:	n/a	n/a
23	TRIM28	chr8:130983628-130984316	K562	blood:	n/a	n/a
24	SP1	chr8:130983682-130984411	HCT-116	colon:	n/a	chr8:130984286-130984307
25	STAT1	chr8:130983800-130984093	GM12878	blood:	n/a	n/a
26	STAT5A	chr8:130983724-130984585	GM12878	blood:	n/a	n/a
27	JUND	chr8:130983737-130984445	K562	blood:	n/a	chr8:130983973-130983983 chr8:130983973-130983983
28	RCOR1	chr8:130983616-130984421	K562	blood:	n/a	n/a
29	USF2	chr8:130983777-130984065	Hela-S3	cervix:	n/a	n/a
30	ZNF143	chr8:130983713-130984205	GM12878	blood:	n/a	n/a
31	REST	chr8:130983800-130984141	Hela-S3	cervix:	n/a	n/a
32	MTA3	chr8:130983465-130984369	GM12878	blood:	n/a	n/a
33	ZNF384	chr8:130983705-130984065	K562	blood:	n/a	n/a
34	ELK1	chr8:130983824-130984463	GM12878	blood:	n/a	chr8:130984315-130984324 chr8:130984315-130984324
35	TBP	chr8:130983789-130984605	K562	blood:	n/a	n/a
36	ATF2	chr8:130983740-130984525	GM12878	blood:	n/a	n/a
37	FOSL1	chr8:130983594-130984481	HCT-116	colon:	n/a	chr8:130983973-130983983 chr8:130983973-130983983
38	ZBTB7A	chr8:130983816-130983965	K562	blood:	n/a	n/a
39	CHD2	chr8:130983765-130984479	GM12878	blood:	n/a	n/a
40	EP300	chr8:130983771-130984498	K562	blood:	n/a	chr8:130983998-130984007 chr8:130983994-130984008
41	CCNT2	chr8:130983850-130984449	K562	blood:	n/a	n/a
42	JUND	chr8:130983661-130984342	HCT-116	colon:	n/a	chr8:130983973-130983983 chr8:130983973-130983983
43	JUND	chr8:130983686-130984285	SK-N-SH	brain:	n/a	chr8:130983973-130983983 chr8:130983973-130983983
44	POLR2A	chr8:130983845-130984243	Hela-S3	cervix:	n/a	n/a
45	SPI1	chr8:130983764-130984150	GM12878	blood:	n/a	chr8:130983996-130984009 chr8:130983997-130984010 chr8:130983998-130984007
46	TBP	chr8:130983847-130984423	Hela-S3	cervix:	n/a	n/a
47	GTF2F1	chr8:130983852-130984534	Hela-S3	cervix:	n/a	n/a
48	EP300	chr8:130983840-130984405	GM12878	blood:	n/a	chr8:130983998-130984007 chr8:130983994-130984008
49	ELK1	chr8:130983801-130984209	Hela-S3	cervix:	n/a	n/a
50	MAX	chr8:130983867-130984499	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:160576697..160577384-chr8:130983681..130984391,2	MCF-7	breast:
2	chr8:130981588..130985969-chr8:131027661..131030801,4	K562	blood:
3	chr8:130981588..130985969-chr8:131024671..131030870,8	K562	blood:
4	chr8:130983642..130985327-chr8:131033782..131036207,2	MCF-7	breast:
5	chr8:130949993..130954520-chr8:130981777..130987768,8	K562	blood:

Variant related genes	Relation type
FAM49B	TF binding region
ENSG00000153310	Chromatin interaction
ENSG00000253720	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10088317	1.00[EUR][1000 genomes]
rs10092658	1.00[CEU][hapmap];1.00[GIH][hapmap];0.87[TSI][hapmap];1.00[EUR][1000 genomes]
rs10111220	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16904182	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17194407	1.00[CEU][hapmap];1.00[GIH][hapmap];0.93[TSI][hapmap];1.00[EUR][1000 genomes]
rs17194571	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17194770	1.00[CEU][hapmap];0.86[TSI][hapmap];0.90[EUR][1000 genomes]
rs17279655	1.00[CEU][hapmap];0.87[GIH][hapmap];0.86[TSI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28411256	0.98[EUR][1000 genomes]
rs28682439	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72718397	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72718400	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72720304	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72720325	0.80[EUR][1000 genomes]
rs7817091	1.00[CEU][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7837729	0.95[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	nsv1018045	chr8:130863644-131122644	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv612231	chr8:130868212-131132592	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv524349	chr8:130868363-131132592	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv1021229	chr8:130887132-131057897	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1017292	chr8:130887132-131107258	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv465808	chr8:130963259-131118658	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv612232	chr8:130963259-131118658	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130966000-130984400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:130966000-130984800	Weak transcription	Esophagus	oesophagus
3	chr8:130970400-130984800	Weak transcription	Fetal Heart	heart
4	chr8:130971600-130984800	Weak transcription	Colonic Mucosa	Colon
5	chr8:130971600-130985400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr8:130975200-130985600	Weak transcription	Liver	Liver
7	chr8:130975800-130984800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr8:130975800-130984800	Weak transcription	Lung	lung
9	chr8:130975800-130985000	Weak transcription	Gastric	stomach
10	chr8:130975800-130994000	Weak transcription	Pancreas	Pancrea
11	chr8:130976000-130988000	Weak transcription	Psoas Muscle	Psoas
12	chr8:130977400-130984000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr8:130978000-130984400	Weak transcription	Rectal Smooth Muscle	rectum
14	chr8:130980400-130984000	Weak transcription	Brain Germinal Matrix	brain
15	chr8:130980600-130984600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr8:130981000-130984000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr8:130981000-130985000	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr8:130981600-130995800	Weak transcription	Fetal Intestine Small	intestine
19	chr8:130982400-130984000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr8:130982400-130984800	Weak transcription	Fetal Brain Female	brain
21	chr8:130982400-130984800	Weak transcription	Left Ventricle	heart
22	chr8:130982600-130984200	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr8:130982600-130984800	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr8:130982600-130984800	Weak transcription	Small Intestine	intestine
25	chr8:130982600-130985400	Weak transcription	Fetal Intestine Large	intestine
26	chr8:130982600-130988200	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr8:130983000-130985800	Enhancers	Brain Cingulate Gyrus	brain
28	chr8:130983000-130986400	Enhancers	Adipose Nuclei	Adipose
29	chr8:130983200-130984000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr8:130983200-130984000	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr8:130983200-130984000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr8:130983200-130984200	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr8:130983200-130985000	Weak transcription	Dnd41	blood
34	chr8:130983200-130985200	Enhancers	HMEC	breast
35	chr8:130983200-130986400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
36	chr8:130983200-130987600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr8:130983200-130989600	Enhancers	Primary B cells from peripheral blood	blood
38	chr8:130983400-130984200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr8:130983400-130984600	Enhancers	HSMM	muscle
40	chr8:130983400-130986000	Enhancers	Brain Hippocampus Middle	brain
41	chr8:130983400-130986400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr8:130983400-130986400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr8:130983400-130986400	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr8:130983600-130984000	Enhancers	Fetal Thymus	thymus
45	chr8:130983600-130984200	Enhancers	Brain Substantia Nigra	brain
46	chr8:130983600-130984200	Enhancers	HepG2	liver
47	chr8:130983600-130984600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr8:130983600-130984800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr8:130983600-130985000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
50	chr8:130983600-130985000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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