Variant report

Variant	rs2276706
Chromosome Location	chr3:119501307-119501308
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	POLR2A	chr3:119500639-119501542	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:119498195..119499776-chr3:119500089..119502545,2	K562	blood:
2	chr3:119498195..119499801-chr3:119500089..119502246,2	K562	blood:

Variant related genes	Relation type
NR1I2	TF binding region
ENSG00000144852	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10511394	0.93[CHB][hapmap]
rs10934498	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11926554	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12488820	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13089523	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1464599	0.93[CHB][hapmap]
rs1523127	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1523130	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1581451	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1608330	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1608332	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2461829	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2461830	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2472664	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2472674	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34255376	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35576922	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3814055	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4566573	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7642839	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7643038	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9289134	0.93[CHB][hapmap]
rs9832958	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9865270	0.93[CHB][hapmap]

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	nsv1011178	chr3:119437192-119589116	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv536703	chr3:119437192-119589116	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	esv2192397	chr3:119501306-119501307	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119497800-119503000	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr3:119499200-119501800	Weak transcription	K562	blood
3	chr3:119499200-119502000	Weak transcription	HSMMtube	muscle
4	chr3:119499600-119501600	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr3:119499600-119501800	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr3:119499600-119502800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr3:119500000-119503200	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr3:119500200-119514400	Weak transcription	Small Intestine	intestine
9	chr3:119500400-119502400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr3:119500600-119502400	Active TSS	Colonic Mucosa	Colon
11	chr3:119500600-119502800	Active TSS	Fetal Intestine Small	intestine
12	chr3:119500600-119503400	Active TSS	Liver	Liver
13	chr3:119500600-119504000	Active TSS	Fetal Intestine Large	intestine
14	chr3:119500600-119504400	Active TSS	Duodenum Mucosa	Duodenum
15	chr3:119500800-119501400	Bivalent/Poised TSS	HepG2	liver
16	chr3:119501000-119501400	Active TSS	Sigmoid Colon	Sigmoid Colon
17	chr3:119501000-119501800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr3:119501000-119501800	Flanking Active TSS	Stomach Mucosa	stomach
19	chr3:119501000-119502000	Active TSS	Rectal Smooth Muscle	rectum
20	chr3:119501000-119502400	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr3:119501200-119501400	Active TSS	Rectal Mucosa Donor 31	rectum
22	chr3:119501200-119502000	Enhancers	HSMM	muscle

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