Variant report

Variant	rs2421099
Chromosome Location	chr2:73296064-73296065
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:73114683..73117579-chr2:73294155..73296243,2	MCF-7	breast:
2	chr2:73291484..73293366-chr2:73295204..73297283,3	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1046183	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10496188	0.89[CEU][hapmap];0.95[JPT][hapmap];0.80[EUR][1000 genomes]
rs13404068	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17008541	0.90[CEU][hapmap];0.90[JPT][hapmap]
rs17008565	0.91[CEU][hapmap];0.86[JPT][hapmap];0.80[EUR][1000 genomes]
rs17008579	0.91[CEU][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs17008608	0.91[CEU][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3849393	0.90[JPT][hapmap]
rs56931614	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56992198	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57875548	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs58469852	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs58617186	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs58649746	0.85[ASN][1000 genomes]
rs58659495	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58731407	0.80[EUR][1000 genomes]
rs59108557	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs59802755	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60341789	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61061024	0.86[EUR][1000 genomes]
rs61652727	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62147722	0.80[EUR][1000 genomes]
rs62147726	0.83[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs62147727	0.85[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs62147728	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs62147731	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62147733	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62147735	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62147756	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs66570372	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6710911	0.80[CEU][hapmap];0.90[JPT][hapmap]
rs6716846	0.94[ASN][1000 genomes]
rs67421457	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6753054	0.91[CEU][hapmap];0.85[JPT][hapmap]
rs6753133	0.91[CEU][hapmap];0.90[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	nsv1002295	chr2:73216155-73350391	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73275800-73297000	Weak transcription	Pancreas	Pancrea
2	chr2:73284600-73296600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr2:73284800-73296400	Weak transcription	Fetal Kidney	kidney
4	chr2:73285000-73296600	Weak transcription	Placenta	Placenta
5	chr2:73285000-73296600	Weak transcription	Ovary	ovary
6	chr2:73285200-73296400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr2:73286000-73296800	Weak transcription	Fetal Stomach	stomach
8	chr2:73286200-73296400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:73291000-73296200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr2:73291400-73296600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:73291400-73296600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr2:73291600-73296400	Weak transcription	Stomach Mucosa	stomach
13	chr2:73291600-73296800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr2:73291600-73296800	Weak transcription	Colonic Mucosa	Colon
15	chr2:73291800-73296400	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr2:73291800-73296400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:73291800-73296400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:73291800-73296400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr2:73291800-73296600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:73291800-73297600	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr2:73292000-73296200	Weak transcription	NH-A	brain
22	chr2:73292000-73296400	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr2:73292000-73296400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr2:73292000-73296600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr2:73292000-73296600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr2:73292000-73296600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:73292000-73296600	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr2:73292000-73296600	Weak transcription	HSMM	muscle
29	chr2:73292000-73296600	Weak transcription	HSMMtube	muscle
30	chr2:73292000-73297000	Weak transcription	Fetal Muscle Trunk	muscle
31	chr2:73292200-73296600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr2:73292400-73296200	Weak transcription	Fetal Thymus	thymus
33	chr2:73292400-73296400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:73292400-73296400	Weak transcription	Osteobl	bone
35	chr2:73292800-73296200	Weak transcription	Fetal Intestine Small	intestine
36	chr2:73292800-73296400	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr2:73293200-73296600	Weak transcription	NHDF-Ad	bronchial
38	chr2:73293400-73296400	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr2:73293400-73296400	Weak transcription	Primary T cells from cord blood	blood
40	chr2:73293400-73296400	Weak transcription	HUVEC	blood vessel
41	chr2:73293600-73296200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr2:73294000-73296600	Enhancers	Psoas Muscle	Psoas
43	chr2:73294200-73296200	Genic enhancers	A549	lung
44	chr2:73294200-73296400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr2:73294800-73296600	Enhancers	HMEC	breast
46	chr2:73294800-73296800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr2:73294800-73297000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr2:73295000-73296400	Enhancers	NHEK	skin
49	chr2:73295200-73296200	Enhancers	Dnd41	blood
50	chr2:73295200-73296400	Enhancers	Primary monocytes fromperipheralblood	blood

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