Variant report

Variant	rs2276624
Chromosome Location	chr2:86737334-86737335
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:86735334..86737957-chr2:86740188..86742060,2	K562	blood:
2	chr2:86736546..86738980-chr2:86748664..86751290,2	K562	blood:
3	chr2:86737238..86738787-chr2:86945375..86947956,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000153561	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10181540	0.86[EUR][1000 genomes]
rs1105862	1.00[CEU][hapmap];0.83[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1105863	1.00[CEU][hapmap];0.82[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1105864	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13023294	1.00[CHB][hapmap]
rs13394423	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs3731811	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3755000	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[ASN][1000 genomes]
rs3821013	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs41318646	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.90[TSI][hapmap];1.00[EUR][1000 genomes]
rs41374146	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[ASN][1000 genomes]
rs58449699	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs58860972	0.85[ASN][1000 genomes]
rs58914241	1.00[EUR][1000 genomes]
rs59064682	0.95[EUR][1000 genomes]
rs59714766	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61748134	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6547681	1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6547683	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6547684	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6707865	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6709505	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6730867	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6731264	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6731801	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6736342	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6744590	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6748880	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6756078	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.90[EUR][1000 genomes]
rs72928446	0.90[EUR][1000 genomes]
rs72934416	0.85[ASN][1000 genomes]
rs72934418	0.85[ASN][1000 genomes]
rs72934421	0.80[ASN][1000 genomes]
rs73945294	1.00[EUR][1000 genomes]
rs73949503	1.00[EUR][1000 genomes]
rs73949512	1.00[EUR][1000 genomes]
rs7568093	0.90[EUR][1000 genomes]
rs7574555	1.00[CEU][hapmap];0.82[JPT][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7592868	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.85[ASN][1000 genomes]
rs870372	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs870373	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs870374	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs870375	1.00[CEU][hapmap];0.82[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs949922	1.00[EUR][1000 genomes]

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	esv3412938	chr2:86370969-86867936	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
2	nsv532724	chr2:86622295-87086407	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86679800-86757000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:86709200-86737400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr2:86724600-86737800	Strong transcription	Stomach Smooth Muscle	stomach
4	chr2:86726400-86737400	Weak transcription	HUVEC	blood vessel
5	chr2:86726400-86741800	Weak transcription	NH-A	brain
6	chr2:86726400-86753000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr2:86726600-86748600	Weak transcription	Hela-S3	cervix
8	chr2:86726800-86739000	Weak transcription	K562	blood
9	chr2:86728000-86737600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:86728000-86737600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr2:86728000-86737600	Strong transcription	Adipose Nuclei	Adipose
12	chr2:86728000-86737800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:86728000-86737800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:86728000-86737800	Strong transcription	Fetal Intestine Large	intestine
15	chr2:86728000-86738000	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr2:86728000-86738400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:86728200-86737800	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr2:86728200-86737800	Weak transcription	Stomach Mucosa	stomach
19	chr2:86728200-86738400	Strong transcription	Dnd41	blood
20	chr2:86728200-86755800	Weak transcription	Fetal Brain Male	brain
21	chr2:86728400-86737800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:86728400-86738000	Strong transcription	Liver	Liver
23	chr2:86728400-86738400	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr2:86728400-86738400	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr2:86728400-86738400	Strong transcription	A549	lung
26	chr2:86728400-86747200	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr2:86728600-86737600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr2:86728600-86738200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr2:86728600-86738800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr2:86728800-86737400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr2:86728800-86737800	Strong transcription	Duodenum Mucosa	Duodenum
32	chr2:86728800-86737800	Strong transcription	Placenta	Placenta
33	chr2:86729000-86737400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr2:86729000-86737800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr2:86729000-86738000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr2:86729000-86738000	Strong transcription	Thymus	Thymus
37	chr2:86729000-86738200	Strong transcription	Fetal Muscle Trunk	muscle
38	chr2:86729000-86738400	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr2:86729000-86738600	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr2:86729000-86747000	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr2:86729200-86737800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr2:86729200-86738600	Strong transcription	Primary T cells from cord blood	blood
43	chr2:86729400-86738000	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr2:86729400-86738400	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr2:86729600-86737800	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr2:86729600-86738200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr2:86729600-86738200	Strong transcription	Fetal Thymus	thymus
48	chr2:86729600-86738400	Strong transcription	Primary B cells from peripheral blood	blood
49	chr2:86729800-86738000	Strong transcription	HepG2	liver
50	chr2:86729800-86738200	Strong transcription	Primary B cells from cord blood	blood

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