Variant report

Variant	rs185440292
Chromosome Location	chr2:11294370-11294371
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr2:11294335-11296260	A549	lung:	n/a	chr2:11296117-11296127 chr2:11295841-11295851
2	MYC	chr2:11294355-11296467	A549	lung:	n/a	chr2:11294830-11294839

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:11293490..11296297-chr2:11680693..11684323,3	MCF-7	breast:
2	chr2:11273055..11275301-chr2:11293268..11296881,3	MCF-7	breast:
3	chr2:11292941..11297094-chr2:11480820..11486254,6	MCF-7	breast:
4	chr2:11273067..11276077-chr2:11294167..11297061,3	K562	blood:
5	chr2:11292794..11295094-chr2:11339407..11341727,2	MCF-7	breast:
6	chr2:11294308..11297184-chr2:11482767..11485221,3	K562	blood:
7	chr2:11271098..11275692-chr2:11293512..11297101,4	MCF-7	breast:
8	chr2:11292916..11295580-chr2:11604494..11607840,3	MCF-7	breast:
9	chr2:11284657..11286652-chr2:11293189..11295227,2	K562	blood:

No data

Variant related genes	Relation type
PQLC3	TF binding region
ENSG00000150873	Chromatin interaction
ENSG00000145063	Chromatin interaction
ENSG00000264010	Chromatin interaction
ENSG00000134318	Chromatin interaction
ENSG00000169016	Chromatin interaction
ENSG00000196208	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv520789	chr2:11259067-11312224	Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	esv3392188	chr2:11294026-11296874	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11273600-11294400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr2:11274000-11294600	Weak transcription	Right Atrium	heart
3	chr2:11284600-11294600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:11288200-11294400	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr2:11288200-11294600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:11289600-11294600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:11289800-11294400	Weak transcription	Pancreas	Pancrea
8	chr2:11291600-11294400	Weak transcription	Adipose Nuclei	Adipose
9	chr2:11291800-11294800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:11292800-11294600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:11294200-11294400	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr2:11294200-11294400	Active TSS	Primary T helper cells fromperipheralblood	blood
13	chr2:11294200-11294400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
14	chr2:11294200-11294400	Flanking Active TSS	Spleen	Spleen
15	chr2:11294200-11294400	Enhancers	Hela-S3	cervix
16	chr2:11294200-11294600	Enhancers	Primary B cells from cord blood	blood
17	chr2:11294200-11294600	Enhancers	Primary B cells from peripheral blood	blood
18	chr2:11294200-11294600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr2:11294200-11294600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:11294200-11294600	Bivalent Enhancer	Fetal Intestine Small	intestine
21	chr2:11294200-11294600	Bivalent Enhancer	Fetal Muscle Leg	muscle
22	chr2:11294200-11294600	Enhancers	Placenta	Placenta
23	chr2:11294200-11294600	Enhancers	Rectal Mucosa Donor 29	rectum
24	chr2:11294200-11294800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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