Variant report

Variant	rs3795442
Chromosome Location	chr1:226175544-226175545
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:225662303..225663219-chr1:226174962..226175679,3	MCF-7	breast:
2	chr1:226068405..226071577-chr1:226174074..226177325,3	K562	blood:
3	chr1:226111562..226114473-chr1:226173046..226176459,4	MCF-7	breast:
4	chr1:226172469..226175801-chr1:226248809..226252876,6	K562	blood:
5	chr1:225662701..225663242-chr1:226175273..226175841,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143811	Chromatin interaction
ENSG00000163041	Chromatin interaction
ENSG00000272562	Chromatin interaction
ENSG00000196187	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11586667	0.86[JPT][hapmap]
rs11590226	0.86[JPT][hapmap]
rs11808474	0.86[JPT][hapmap]
rs16845468	0.86[JPT][hapmap]
rs6681666	1.00[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs73100519	0.97[ASN][1000 genomes]
rs73100530	0.97[ASN][1000 genomes]
rs7554619	0.86[JPT][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	esv1834948	chr1:225874059-226214882	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer 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	60 gene(s)	inside rSNPs	diseases
2	nsv524126	chr1:225973777-226210653	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv2762223	chr1:226025175-226201716	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226129600-226185600	Weak transcription	Right Atrium	heart
2	chr1:226163600-226175800	Weak transcription	Aorta	Aorta
3	chr1:226163800-226175600	Weak transcription	Gastric	stomach
4	chr1:226163800-226175800	Weak transcription	Esophagus	oesophagus
5	chr1:226163800-226178800	Weak transcription	Right Ventricle	heart
6	chr1:226164400-226179000	Weak transcription	Small Intestine	intestine
7	chr1:226164600-226182800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr1:226164600-226183000	Strong transcription	Placenta	Placenta
9	chr1:226165000-226178800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr1:226165000-226183600	Strong transcription	Adipose Nuclei	Adipose
11	chr1:226165000-226186000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr1:226165200-226183200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:226165200-226183400	Strong transcription	Osteobl	bone
14	chr1:226165400-226176800	Strong transcription	HSMM	muscle
15	chr1:226165400-226182400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:226165400-226183000	Strong transcription	Liver	Liver
17	chr1:226165400-226183000	Strong transcription	Left Ventricle	heart
18	chr1:226165400-226183400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:226165400-226183400	Strong transcription	Stomach Smooth Muscle	stomach
20	chr1:226165400-226183800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:226165600-226184400	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr1:226166000-226178600	Weak transcription	Fetal Brain Male	brain
23	chr1:226166400-226176200	Strong transcription	Fetal Lung	lung
24	chr1:226166600-226175600	Weak transcription	Colonic Mucosa	Colon
25	chr1:226167000-226177400	Weak transcription	Pancreas	Pancrea
26	chr1:226167000-226179600	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr1:226167000-226185000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr1:226167200-226176000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr1:226167200-226176000	Strong transcription	Fetal Kidney	kidney
30	chr1:226167400-226176000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr1:226167400-226176000	Strong transcription	HUVEC	blood vessel
32	chr1:226167400-226176200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
33	chr1:226167400-226176200	Strong transcription	Brain Hippocampus Middle	brain
34	chr1:226167400-226176400	Strong transcription	Dnd41	blood
35	chr1:226167400-226182400	Strong transcription	Duodenum Smooth Muscle	Duodenum
36	chr1:226167400-226183600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr1:226167600-226183000	Strong transcription	NH-A	brain
38	chr1:226167600-226183200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr1:226167800-226175600	Weak transcription	Ovary	ovary
40	chr1:226167800-226183200	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr1:226168600-226178400	Strong transcription	Duodenum Mucosa	Duodenum
42	chr1:226168600-226183200	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr1:226168800-226175600	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr1:226169000-226176000	Strong transcription	Hela-S3	cervix
45	chr1:226169000-226176400	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr1:226169200-226183600	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr1:226169400-226178800	Weak transcription	Fetal Heart	heart
48	chr1:226169800-226183200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr1:226169800-226183600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:226169800-226183600	Weak transcription	Stomach Mucosa	stomach

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