Variant report

Variant	rs9287733
Chromosome Location	chr2:11722619-11722620
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	POLR2A	chr2:11720876-11723810	HepG2	liver:	n/a	n/a
3	MAX	chr2:11722502-11723331	A549	lung:	n/a	chr2:11722952-11722962 chr2:11723151-11723160 chr2:11723152-11723161
4	CTCF	chr2:11722560-11722710	GM12866	blood:	n/a	n/a
5	POLR2A	chr2:11712005-11732311	MCF-7	breast:	n/a	n/a
6	MAX	chr2:11722608-11723102	K562	blood:	n/a	chr2:11722952-11722962
7	POLR2A	chr2:11721389-11723390	HepG2	liver:	n/a	n/a
8	CTCF	chr2:11722500-11722650	HVMF	connective:	n/a	n/a
9	POLR2A	chr2:11722192-11723577	HepG2	liver:	n/a	n/a
10	RAD21	chr2:11722557-11723437	HCT-116	colon:	n/a	chr2:11723021-11723031 chr2:11722764-11722776 chr2:11723014-11723027 chr2:11723013-11723025 chr2:11723011-11723030 chr2:11723015-11723025 chr2:11722806-11722820
11	SIN3AK20	chr2:11721955-11724935	MCF-7	breast:	n/a	n/a
12	CTCF	chr2:11722464-11723781	A549	lung:	n/a	chr2:11723015-11723028 chr2:11723019-11723028 chr2:11723013-11723031 chr2:11723018-11723031
13	RAD21	chr2:11722585-11723260	H1-hESC	embryonic stem cell:	n/a	chr2:11723021-11723031 chr2:11722764-11722776 chr2:11723014-11723027 chr2:11723013-11723025 chr2:11723011-11723030 chr2:11723015-11723025 chr2:11722806-11722820
14	SMC3	chr2:11722459-11723463	SK-N-SH	brain:	n/a	chr2:11723015-11723029 chr2:11723015-11723025 chr2:11722825-11722839 chr2:11723021-11723031
15	RAD21	chr2:11722551-11723549	SK-N-SH	brain:	n/a	chr2:11723021-11723031 chr2:11722764-11722776 chr2:11723014-11723027 chr2:11723013-11723025 chr2:11723011-11723030 chr2:11723015-11723025 chr2:11722806-11722820
16	POLR2A	chr2:11721551-11723534	HepG2	liver:	n/a	n/a
17	CTCF	chr2:11722553-11723348	HCT-116	colon:	n/a	chr2:11723015-11723028 chr2:11723019-11723028 chr2:11723013-11723031 chr2:11723018-11723031
18	TCF12	chr2:11722569-11723820	A549	lung:	n/a	n/a
19	CTCF	chr2:11722580-11722730	SAEC	small airway:	n/a	n/a
20	FOSL2	chr2:11722175-11723684	HepG2	liver:	n/a	chr2:11723150-11723162 chr2:11723152-11723161 chr2:11723153-11723160 chr2:11723151-11723161 chr2:11723152-11723160 chr2:11723245-11723254

No.	Distal block	Cell Line	Cell type
1	chr2:11674992..11675535-chr2:11722581..11723483,3	MCF-7	breast:
2	chr2:11617839..11618544-chr2:11722552..11723470,3	MCF-7	breast:
3	chr2:11617909..11619476-chr2:11722476..11723331,8	K562	blood:
4	chr2:11713329..11715208-chr2:11722167..11724043,2	K562	blood:
5	chr2:11603362..11606235-chr2:11721307..11722815,2	K562	blood:
6	chr2:11619147..11621466-chr2:11720727..11723071,2	K562	blood:
7	chr2:11272792..11273388-chr2:11722468..11723500,6	K562	blood:
8	chr2:11617635..11618699-chr2:11722537..11723549,3	MCF-7	breast:
9	chr2:11722583..11723278-chr2:206254771..206255272,2	K562	blood:

Variant related genes	Relation type
RN7SL674P	TF binding region
ENSG00000169016	Chromatin interaction
ENSG00000150873	Chromatin interaction
ENSG00000269074	Chromatin interaction
ENSG00000145063	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	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11688915	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11689869	0.85[ASN][1000 genomes]
rs13004648	0.81[CEU][hapmap];0.89[EUR][1000 genomes]
rs13009660	0.94[EUR][1000 genomes]
rs13431704	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13432243	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1435547	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1865575	1.00[CHB][hapmap];1.00[JPT][hapmap];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	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4669756	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs62118318	0.85[ASN][1000 genomes]
rs6724078	0.94[CEU][hapmap];0.95[EUR][1000 genomes]
rs6736604	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6743256	0.94[EUR][1000 genomes]
rs6744817	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7557063	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7559835	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7576944	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7596162	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs880858	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:56 , 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	chr2:11697000-11723000	Weak transcription	Brain Anterior Caudate	brain
4	chr2:11697000-11723200	Weak transcription	Brain Angular Gyrus	brain
5	chr2:11699800-11723000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:11700000-11767000	Weak transcription	Right Atrium	heart
7	chr2:11700200-11723000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:11709800-11724200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr2:11711600-11723200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr2:11711600-11738600	Weak transcription	Left Ventricle	heart
11	chr2:11714400-11765000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:11714600-11722800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr2:11717600-11767000	Weak transcription	Fetal Intestine Small	intestine
14	chr2:11719000-11722800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr2:11719000-11723000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr2:11719000-11723000	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr2:11719200-11725800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr2:11719200-11738000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr2:11719400-11750800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr2:11719800-11723000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr2:11720000-11735600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr2:11720400-11722800	Genic enhancers	Ovary	ovary
23	chr2:11720600-11722800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:11721200-11723000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr2:11721600-11733000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:11721800-11726000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:11722000-11722800	Weak transcription	Brain Substantia Nigra	brain
28	chr2:11722000-11722800	Genic enhancers	Fetal Stomach	stomach
29	chr2:11722000-11723000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr2:11722000-11724600	Enhancers	Fetal Muscle Leg	muscle
31	chr2:11722000-11725600	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr2:11722200-11723000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr2:11722200-11723400	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr2:11722200-11724600	Enhancers	Fetal Muscle Trunk	muscle
35	chr2:11722400-11722800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr2:11722400-11722800	Bivalent Enhancer	Placenta	Placenta
37	chr2:11722400-11722800	Genic enhancers	HepG2	liver
38	chr2:11722400-11723000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr2:11722400-11723200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr2:11722400-11723200	Active TSS	A549	lung
41	chr2:11722400-11723400	Enhancers	Fetal Lung	lung
42	chr2:11722400-11724400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr2:11722400-11724400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr2:11722600-11722800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:11722600-11722800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr2:11722600-11723000	Enhancers	Colonic Mucosa	Colon
47	chr2:11722600-11723000	Enhancers	Duodenum Mucosa	Duodenum
48	chr2:11722600-11723000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr2:11722600-11723200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr2:11722600-11723600	Enhancers	H1 Cell Line	embryonic stem cell

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