Variant report

Variant	rs3737771
Chromosome Location	chr1:47654567-47654568
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	CEBPB	chr1:47654421-47654672	K562	blood:	n/a	n/a
2	STAT3	chr1:47654492-47654619	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:47654478..47656007-chr1:47798811..47801587,2	MCF-7	breast:
2	chr1:47651931..47654711-chr1:47778304..47779934,2	K562	blood:
3	chr1:47652463..47655353-chr1:47795985..47798380,2	MCF-7	breast:

Variant related genes	Relation type
PDZK1IP1	TF binding region
ENSG00000123473	Chromatin interaction
ENSG00000162368	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11211479	0.80[ASN][1000 genomes]
rs12083555	1.00[JPT][hapmap]
rs7514922	0.95[ASN][1000 genomes]
rs7664	1.00[JPT][hapmap]
rs977747	1.00[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916813	chr1:47435635-47666179	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47647200-47655200	Weak transcription	Right Atrium	heart
2	chr1:47650000-47655400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr1:47650000-47655400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:47650200-47655000	Weak transcription	A549	lung
5	chr1:47650600-47655000	Weak transcription	Lung	lung
6	chr1:47650600-47655400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:47652400-47655000	Enhancers	Stomach Mucosa	stomach
8	chr1:47652600-47659000	Enhancers	Fetal Intestine Small	intestine
9	chr1:47652800-47655200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr1:47652800-47658400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr1:47653000-47655200	Enhancers	Duodenum Mucosa	Duodenum
12	chr1:47653200-47658400	Enhancers	K562	blood
13	chr1:47653400-47655800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:47653600-47655400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr1:47653600-47656600	Enhancers	HepG2	liver
16	chr1:47654400-47654600	Flanking Active TSS	Fetal Intestine Large	intestine
17	chr1:47654400-47654800	Flanking Active TSS	Esophagus	oesophagus
18	chr1:47654400-47654800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
19	chr1:47654400-47655000	Weak transcription	Gastric	stomach
20	chr1:47654400-47655000	Enhancers	Pancreas	Pancrea
21	chr1:47654400-47655200	Enhancers	Colonic Mucosa	Colon
22	chr1:47654400-47655200	Weak transcription	Small Intestine	intestine
23	chr1:47654400-47655400	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr1:47654400-47655600	Active TSS	Rectal Smooth Muscle	rectum
25	chr1:47654400-47655800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum

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