Variant report

Variant	rs2473131
Chromosome Location	chr6:144612669-144612670
allele	G/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	MAFF	chr6:144612549-144612823	HepG2	liver:	n/a	chr6:144612672-144612690
2	MAFK	chr6:144612570-144612773	HepG2	liver:	n/a	chr6:144612674-144612689
3	MAFK	chr6:144612565-144612788	IMR90	lung:	n/a	chr6:144612674-144612689
4	MAFK	chr6:144612520-144612818	HepG2	liver:	n/a	chr6:144612674-144612689
5	EP300	chr6:144612475-144612700	SK-N-SH_RA	brain:	n/a	n/a
6	STAT3	chr6:144612489-144612795	MCF10A-Er-Src	breast:	n/a	n/a
7	MAFF	chr6:144612658-144612710	K562	blood:	n/a	chr6:144612672-144612690

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:144606824..144608686-chr6:144612293..144613805,2	K562	blood:

Variant related genes	Relation type
UTRN	TF binding region
ENSG00000152818	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1322447	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1967671	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2017652	0.98[ASN][1000 genomes]
rs2473132	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2473133	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2473134	1.00[CEU][hapmap];0.94[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2473138	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2473139	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2473140	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2473141	0.98[ASN][1000 genomes]
rs2473142	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2473143	0.98[ASN][1000 genomes]
rs2473144	0.98[ASN][1000 genomes]
rs2473145	1.00[CEU][hapmap];0.80[CHB][hapmap];0.89[JPT][hapmap];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2473147	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs2473148	0.83[JPT][hapmap]
rs2473149	0.88[JPT][hapmap];0.80[ASN][1000 genomes]
rs2473150	0.81[ASN][1000 genomes]
rs2473151	0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs2502628	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2502629	0.95[EUR][1000 genomes]
rs2502631	0.82[ASN][1000 genomes]
rs2502642	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830831	chr6:144501371-144649509	Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv830832	chr6:144572378-144759023	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv2422260	chr6:144574591-144731630	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1031253	chr6:144599055-144883013	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv538461	chr6:144599055-144883013	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144608400-144626600	Weak transcription	Spleen	Spleen
2	chr6:144608600-144613000	Weak transcription	Placenta	Placenta
3	chr6:144608600-144613400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr6:144608600-144616600	Weak transcription	Pancreas	Pancrea
5	chr6:144608600-144616800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:144608600-144617200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:144608600-144617200	Weak transcription	Gastric	stomach
8	chr6:144608600-144617800	Weak transcription	Stomach Mucosa	stomach
9	chr6:144608600-144619400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr6:144608600-144626800	Weak transcription	Esophagus	oesophagus
11	chr6:144608600-144629800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr6:144608600-144631400	Weak transcription	Colonic Mucosa	Colon
13	chr6:144608800-144616800	Weak transcription	Fetal Intestine Large	intestine
14	chr6:144608800-144617600	Weak transcription	Right Atrium	heart
15	chr6:144609000-144614000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr6:144609000-144616400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr6:144609000-144616800	Weak transcription	Aorta	Aorta
18	chr6:144609200-144612800	Weak transcription	Primary hematopoietic stem cells	blood
19	chr6:144609200-144613400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr6:144609200-144613400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr6:144609200-144613400	Weak transcription	HSMMtube	muscle
22	chr6:144609200-144613400	Weak transcription	NHLF	lung
23	chr6:144609200-144614400	Weak transcription	NHEK	skin
24	chr6:144609200-144616000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr6:144609200-144616400	Weak transcription	Fetal Muscle Leg	muscle
26	chr6:144609200-144616400	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr6:144609200-144616600	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr6:144609200-144616600	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr6:144609200-144616600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr6:144609200-144616600	Weak transcription	Left Ventricle	heart
31	chr6:144609200-144616800	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr6:144609200-144616800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr6:144609200-144616800	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr6:144609200-144616800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr6:144609200-144616800	Weak transcription	Fetal Lung	lung
36	chr6:144609200-144616800	Weak transcription	Fetal Stomach	stomach
37	chr6:144609200-144617000	Weak transcription	Right Ventricle	heart
38	chr6:144609200-144617200	Weak transcription	Fetal Intestine Small	intestine
39	chr6:144609200-144617200	Weak transcription	Psoas Muscle	Psoas
40	chr6:144609200-144617800	Weak transcription	Brain Anterior Caudate	brain
41	chr6:144609200-144617800	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr6:144609200-144618000	Weak transcription	Duodenum Mucosa	Duodenum
43	chr6:144609200-144618000	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr6:144609200-144618200	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr6:144609200-144618600	Weak transcription	Brain Cingulate Gyrus	brain
46	chr6:144609200-144623800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr6:144609200-144623800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr6:144609200-144626800	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr6:144609200-144641600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr6:144609400-144612800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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