Variant report

Variant	rs2232748
Chromosome Location	chr2:85824084-85824085
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:85802926..85807956-chr2:85820760..85828546,8	K562	blood:
2	chr2:85645665..85648237-chr2:85822312..85824673,3	MCF-7	breast:
3	chr2:85647963..85650741-chr2:85821196..85824176,3	K562	blood:
4	chr2:85785429..85790468-chr2:85820934..85826927,9	MCF-7	breast:
5	chr2:85764454..85770994-chr2:85819148..85831427,14	K562	blood:
6	chr2:85777446..85780419-chr2:85822995..85825315,2	MCF-7	breast:
7	chr2:85781595..85783590-chr2:85822310..85824885,2	MCF-7	breast:
8	chr2:85788313..85790312-chr2:85822619..85824449,2	K562	blood:
9	chr2:85765572..85767946-chr2:85820164..85824365,5	MCF-7	breast:
10	chr2:85788313..85790216-chr2:85821578..85824119,2	K562	blood:
11	chr2:85764018..85768553-chr2:85822883..85829718,12	MCF-7	breast:
12	chr2:85765237..85769549-chr2:85821409..85826975,10	K562	blood:

No data

Variant related genes	Relation type
ENSG00000152292	Chromatin interaction
ENSG00000168906	Chromatin interaction
ENSG00000115486	Chromatin interaction
ENSG00000118640	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10179195	0.80[JPT][hapmap]
rs10180770	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs10182351	0.80[CHB][hapmap];0.82[JPT][hapmap]
rs10187424	0.80[JPT][hapmap]
rs10198569	0.80[JPT][hapmap]
rs10206961	0.80[JPT][hapmap]
rs1044158	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1078004	0.81[JPT][hapmap]
rs1124836	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs12463933	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs13383605	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs13406807	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17026396	0.80[JPT][hapmap]
rs2028900	0.80[JPT][hapmap]
rs2040349	1.00[CEU][hapmap];0.90[YRI][hapmap];0.82[EUR][1000 genomes]
rs2044474	0.81[JPT][hapmap]
rs2118177	1.00[CEU][hapmap];0.90[YRI][hapmap];0.82[EUR][1000 genomes]
rs2232745	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs2232747	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs2232750	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs2304564	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs3755015	0.81[JPT][hapmap]
rs3821020	0.81[JPT][hapmap]
rs3827550	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs58588820	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62166774	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6547621	0.81[JPT][hapmap]
rs6547629	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6643	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs6705971	0.80[JPT][hapmap]
rs6733550	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6738645	0.81[JPT][hapmap]
rs6743051	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs7568458	0.81[JPT][hapmap]
rs9678632	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9752	0.83[EUR][1000 genomes]

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	esv992753	chr2:85822210-85825244	Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 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	chr2:85823200-85824400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:85823200-85825000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:85823200-85829200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:85823600-85824200	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:85823600-85824200	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:85823600-85824200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:85823600-85824200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:85823600-85824200	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
9	chr2:85823600-85824200	Transcr. at gene 5' and 3'	Lung	lung
10	chr2:85823600-85824200	Enhancers	Right Atrium	heart
11	chr2:85823600-85824200	Enhancers	Small Intestine	intestine
12	chr2:85823600-85824200	Flanking Active TSS	NHDF-Ad	bronchial
13	chr2:85823600-85824400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:85823600-85824400	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
15	chr2:85823600-85824600	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
16	chr2:85823600-85824600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:85823600-85824800	Enhancers	Fetal Heart	heart
18	chr2:85823600-85825000	Genic enhancers	Gastric	stomach
19	chr2:85823600-85829000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr2:85823800-85824200	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:85823800-85824200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr2:85823800-85824200	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:85823800-85824200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr2:85823800-85824200	Genic enhancers	Cortex derived primary cultured neurospheres	brain
25	chr2:85823800-85824200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:85823800-85824200	Transcr. at gene 5' and 3'	Brain Anterior Caudate	brain
27	chr2:85823800-85824200	Transcr. at gene 5' and 3'	Brain Hippocampus Middle	brain
28	chr2:85823800-85824200	Transcr. at gene 5' and 3'	Brain Dorsolateral Prefrontal Cortex	brain
29	chr2:85823800-85824200	Transcr. at gene 5' and 3'	Hela-S3	cervix
30	chr2:85823800-85824200	Transcr. at gene 5' and 3'	Osteobl	bone
31	chr2:85823800-85824400	Transcr. at gene 5' and 3'	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr2:85823800-85824400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr2:85823800-85824400	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:85823800-85824400	Genic enhancers	Primary monocytes fromperipheralblood	blood
35	chr2:85823800-85824400	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr2:85823800-85824400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr2:85823800-85824400	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr2:85823800-85824400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr2:85823800-85824400	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr2:85823800-85824400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr2:85823800-85824400	Genic enhancers	Esophagus	oesophagus
42	chr2:85823800-85824400	Genic enhancers	Fetal Muscle Trunk	muscle
43	chr2:85823800-85824400	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
44	chr2:85823800-85824400	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
45	chr2:85823800-85824400	Transcr. at gene 5' and 3'	HSMMtube	muscle
46	chr2:85823800-85824400	Enhancers	HUVEC	blood vessel
47	chr2:85823800-85824600	Genic enhancers	Brain Angular Gyrus	brain
48	chr2:85823800-85824600	Genic enhancers	Brain Cingulate Gyrus	brain
49	chr2:85823800-85824600	Enhancers	Fetal Brain Male	brain
50	chr2:85823800-85824600	Genic enhancers	Placenta	Placenta

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