Variant report

Variant	rs6736604
Chromosome Location	chr2:11723736-11723737
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	CTCF	chr2:11721671-11723784	SK-N-SH	brain:	n/a	chr2:11723015-11723028 chr2:11723019-11723028 chr2:11723013-11723031 chr2:11723018-11723031
2	MYBL2	chr2:11722722-11723839	HepG2	liver:	n/a	n/a
3	FOXA1	chr2:11722788-11723906	HepG2	liver:	n/a	chr2:11723592-11723604
4	POLR2A	chr2:11720876-11723810	HepG2	liver:	n/a	n/a
5	FOXA2	chr2:11723294-11723806	A549	lung:	n/a	chr2:11723592-11723604
6	POLR2A	chr2:11723681-11723966	HepG2	liver:	n/a	n/a
7	POLR2A	chr2:11712005-11732311	MCF-7	breast:	n/a	n/a
8	REST	chr2:11723457-11723812	HepG2	liver:	n/a	n/a
9	FOXA2	chr2:11722942-11724253	HepG2	liver:	n/a	chr2:11723592-11723604
10	EP300	chr2:11723240-11723750	HepG2	liver:	n/a	chr2:11723585-11723599 chr2:11723595-11723605 chr2:11723637-11723647
11	FOXA1	chr2:11723150-11723820	HepG2	liver:	n/a	chr2:11723592-11723604
12	RFX5	chr2:11722758-11723828	IMR90	lung:	n/a	n/a
13	MBD4	chr2:11722764-11723753	HepG2	liver:	n/a	n/a
14	SIN3AK20	chr2:11721955-11724935	MCF-7	breast:	n/a	n/a
15	CTCF	chr2:11722464-11723781	A549	lung:	n/a	chr2:11723015-11723028 chr2:11723019-11723028 chr2:11723013-11723031 chr2:11723018-11723031
16	MBD4	chr2:11722678-11723789	HepG2	liver:	n/a	n/a
17	EP300	chr2:11723297-11723787	HepG2	liver:	n/a	chr2:11723585-11723599 chr2:11723595-11723605 chr2:11723637-11723647
18	TEAD4	chr2:11722733-11723764	HepG2	liver:	n/a	n/a
19	FOXA2	chr2:11723333-11723772	A549	lung:	n/a	chr2:11723592-11723604
20	NFIC	chr2:11723224-11723818	HepG2	liver:	n/a	n/a
21	FOXA2	chr2:11723300-11723780	HepG2	liver:	n/a	chr2:11723592-11723604
22	TCF12	chr2:11722569-11723820	A549	lung:	n/a	n/a
23	FOXA1	chr2:11723185-11723918	HepG2	liver:	n/a	chr2:11723592-11723604
24	FOXA1	chr2:11723340-11723833	HepG2	liver:	n/a	chr2:11723592-11723604

No.	Distal block	Cell Line	Cell type
1	chr2:11723075..11724603-chr2:11731951..11734172,2	MCF-7	breast:
2	chr2:11723582..11725102-chr2:11727716..11730148,2	K562	blood:
3	chr2:11713329..11715208-chr2:11722167..11724043,2	K562	blood:

Variant related genes	Relation type
GREB1	TF binding region
RN7SL674P	TF binding region
ENSG00000196208	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11681838	0.90[ASN][1000 genomes]
rs11688915	0.90[ASN][1000 genomes]
rs11689869	0.85[ASN][1000 genomes]
rs13004648	0.89[EUR][1000 genomes]
rs13009660	0.94[EUR][1000 genomes]
rs13431704	1.00[ASN][1000 genomes]
rs13432243	1.00[ASN][1000 genomes]
rs1435547	0.95[ASN][1000 genomes]
rs1865575	0.95[ASN][1000 genomes]
rs34507933	0.94[EUR][1000 genomes]
rs35023351	0.94[EUR][1000 genomes]
rs35188552	0.92[EUR][1000 genomes]
rs35217326	0.86[EUR][1000 genomes]
rs35587928	0.94[EUR][1000 genomes]
rs36030386	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4669756	0.85[ASN][1000 genomes]
rs62118318	0.85[ASN][1000 genomes]
rs6724078	0.95[EUR][1000 genomes]
rs6743256	0.94[EUR][1000 genomes]
rs6744817	1.00[ASN][1000 genomes]
rs7557063	0.95[ASN][1000 genomes]
rs7559835	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7576944	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7596162	0.80[ASN][1000 genomes]
rs880858	1.00[ASN][1000 genomes]
rs9287733	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv873663	chr2:11664349-11783775	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11678400-11757000	Weak transcription	Right Ventricle	heart
2	chr2:11694800-11755200	Weak transcription	Gastric	stomach
3	chr2:11700000-11767000	Weak transcription	Right Atrium	heart
4	chr2:11709800-11724200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr2:11711600-11738600	Weak transcription	Left Ventricle	heart
6	chr2:11714400-11765000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:11717600-11767000	Weak transcription	Fetal Intestine Small	intestine
8	chr2:11719200-11725800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr2:11719200-11738000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr2:11719400-11750800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:11720000-11735600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr2:11721600-11733000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:11721800-11726000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:11722000-11724600	Enhancers	Fetal Muscle Leg	muscle
15	chr2:11722000-11725600	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr2:11722200-11724600	Enhancers	Fetal Muscle Trunk	muscle
17	chr2:11722400-11724400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr2:11722400-11724400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:11722600-11724200	Enhancers	Pancreas	Pancrea
20	chr2:11722600-11724400	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr2:11722600-11724800	Enhancers	Stomach Smooth Muscle	stomach
22	chr2:11722600-11724800	Enhancers	HSMMtube	muscle
23	chr2:11722800-11723800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr2:11722800-11724200	Enhancers	Placenta	Placenta
25	chr2:11722800-11724200	Enhancers	Ovary	ovary
26	chr2:11722800-11724400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:11722800-11724400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr2:11722800-11724400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr2:11722800-11724400	Enhancers	Fetal Stomach	stomach
30	chr2:11722800-11724400	Enhancers	HSMM	muscle
31	chr2:11722800-11724800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:11722800-11724800	Enhancers	Stomach Mucosa	stomach
33	chr2:11722800-11724800	Enhancers	NHDF-Ad	bronchial
34	chr2:11723000-11723800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr2:11723000-11723800	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr2:11723000-11723800	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr2:11723000-11724000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr2:11723000-11724200	Enhancers	Colon Smooth Muscle	Colon
39	chr2:11723000-11724400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr2:11723000-11724400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr2:11723000-11724600	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:11723000-11724600	Enhancers	Brain Anterior Caudate	brain
43	chr2:11723000-11724800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr2:11723000-11724800	Enhancers	NH-A	brain
45	chr2:11723000-11725400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr2:11723000-11740400	Weak transcription	Liver	Liver
47	chr2:11723200-11723800	Enhancers	Adipose Nuclei	Adipose
48	chr2:11723200-11724200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr2:11723200-11724200	Enhancers	A549	lung
50	chr2:11723200-11724400	Enhancers	NHLF	lung

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