Variant report

Variant	rs12191873
Chromosome Location	chr6:44060576-44060577
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr6:44060108-44060643	HepG2	liver:	n/a	n/a
2	RXRA	chr6:44060002-44060585	HepG2	liver:	n/a	n/a
3	MYBL2	chr6:44059829-44060943	HepG2	liver:	n/a	n/a
4	MAX	chr6:44059768-44060801	HepG2	liver:	n/a	n/a
5	EP300	chr6:44060006-44060746	HepG2	liver:	n/a	n/a
6	MYBL2	chr6:44059868-44060730	HepG2	liver:	n/a	n/a
7	SP1	chr6:44060014-44060694	HepG2	liver:	n/a	n/a
8	HDAC2	chr6:44059851-44060671	HepG2	liver:	n/a	n/a
9	NFIC	chr6:44059855-44060645	HepG2	liver:	n/a	n/a
10	TEAD4	chr6:44059814-44060662	HepG2	liver:	n/a	n/a
11	EP300	chr6:44059844-44060679	HepG2	liver:	n/a	n/a
12	MXI1	chr6:44060052-44060660	HepG2	liver:	n/a	n/a
13	CEBPB	chr6:44060117-44060602	HepG2	liver:	n/a	n/a
14	NFIC	chr6:44059753-44060832	HepG2	liver:	n/a	n/a
15	MBD4	chr6:44059973-44060779	HepG2	liver:	n/a	n/a
16	POLR2A	chr6:44060464-44060994	HepG2	liver:	n/a	n/a
17	HEY1	chr6:44060025-44060704	HepG2	liver:	n/a	n/a
18	EP300	chr6:44060052-44060666	HepG2	liver:	n/a	n/a
19	ARID3A	chr6:44060119-44060614	HepG2	liver:	n/a	n/a
20	FOXA1	chr6:44059984-44060576	HepG2	liver:	n/a	n/a
21	FOXA2	chr6:44059596-44060796	HepG2	liver:	n/a	n/a
22	FOXA1	chr6:44059928-44060642	HepG2	liver:	n/a	n/a
23	FOXA1	chr6:44059806-44060611	HepG2	liver:	n/a	n/a
24	HNF4A	chr6:44060197-44060670	HepG2	liver:	n/a	n/a
25	FOXA1	chr6:44059892-44060695	HepG2	liver:	n/a	n/a
26	FOSL2	chr6:44060037-44060639	HepG2	liver:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:44060224..44061946-chr6:44074240..44078220,3	K562	blood:
2	chr6:44048588..44050473-chr6:44060202..44062379,2	K562	blood:
3	chr6:44059285..44062949-chr6:44063714..44068721,8	K562	blood:
4	chr6:44059411..44061109-chr6:44123433..44125629,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000183239	TF binding region

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10948121	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12202501	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs12206795	1.00[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2064639	1.00[AFR][1000 genomes]
rs2064640	1.00[AFR][1000 genomes]
rs2092870	1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2236061	1.00[AFR][1000 genomes]
rs3734695	0.87[JPT][hapmap]
rs3734697	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs4628095	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs4711764	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs4711766	1.00[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs4714738	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4714750	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs4714754	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs4714759	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs4714761	1.00[CHB][hapmap];0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs4714762	0.83[ASN][1000 genomes]
rs62401766	1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs62403189	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs877112	0.94[JPT][hapmap]
rs9349270	1.00[AFR][1000 genomes]
rs9349271	1.00[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs9349272	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs9349275	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs9357432	1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs9369448	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs9369449	1.00[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs9369450	1.00[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs9369453	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs9369454	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs9369456	0.86[ASN][1000 genomes]
rs9369457	1.00[AFR][1000 genomes]
rs9369458	0.87[JPT][hapmap]
rs9381287	1.00[AFR][1000 genomes]
rs9381294	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs9394984	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS 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 miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases
2	nsv462935	chr6:44046143-44117607	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv603002	chr6:44046143-44117607	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44044200-44067000	Weak transcription	NHDF-Ad	bronchial
2	chr6:44044600-44067600	Weak transcription	Spleen	Spleen
3	chr6:44044800-44062200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr6:44044800-44067000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr6:44044800-44067400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr6:44044800-44070200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr6:44044800-44071400	Weak transcription	Colon Smooth Muscle	Colon
8	chr6:44045000-44067400	Weak transcription	Brain Anterior Caudate	brain
9	chr6:44045000-44071800	Weak transcription	Aorta	Aorta
10	chr6:44045600-44067000	Weak transcription	Fetal Brain Female	brain
11	chr6:44047000-44066600	Weak transcription	Thymus	Thymus
12	chr6:44047400-44061600	Weak transcription	Stomach Smooth Muscle	stomach
13	chr6:44047400-44061800	Weak transcription	Brain Angular Gyrus	brain
14	chr6:44047400-44062000	Weak transcription	Brain Germinal Matrix	brain
15	chr6:44047400-44062000	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr6:44047400-44067200	Weak transcription	Dnd41	blood
17	chr6:44047400-44067400	Weak transcription	Primary B cells from peripheral blood	blood
18	chr6:44047400-44067600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr6:44047400-44069200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr6:44047400-44071400	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr6:44048800-44060800	Weak transcription	NHLF	lung
22	chr6:44049200-44062000	Weak transcription	Ovary	ovary
23	chr6:44049400-44061800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr6:44049400-44061800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr6:44049400-44067000	Weak transcription	GM12878-XiMat	blood
26	chr6:44049800-44061800	Weak transcription	Fetal Thymus	thymus
27	chr6:44051600-44067400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr6:44052600-44067000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr6:44052600-44071000	Weak transcription	HSMMtube	muscle
30	chr6:44052800-44061600	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr6:44052800-44067000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr6:44052800-44067400	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr6:44052800-44071000	Weak transcription	Placenta	Placenta
34	chr6:44052800-44071800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr6:44053000-44067000	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr6:44053000-44067000	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr6:44053000-44070400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr6:44053200-44061600	Weak transcription	NHEK	skin
39	chr6:44054800-44067400	Weak transcription	Primary hematopoietic stem cells	blood
40	chr6:44055000-44061600	Weak transcription	Adipose Nuclei	Adipose
41	chr6:44055000-44068000	Weak transcription	Esophagus	oesophagus
42	chr6:44055200-44061600	Weak transcription	Duodenum Mucosa	Duodenum
43	chr6:44055200-44061800	Weak transcription	Right Ventricle	heart
44	chr6:44055200-44064400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr6:44055200-44064600	Strong transcription	Fetal Stomach	stomach
46	chr6:44055200-44067600	Weak transcription	Fetal Lung	lung
47	chr6:44055200-44068000	Weak transcription	Gastric	stomach
48	chr6:44055200-44068000	Weak transcription	Right Atrium	heart
49	chr6:44055400-44060800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr6:44055400-44062200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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