Variant report

Variant	rs10209160
Chromosome Location	chr2:113495785-113495786
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:113491290..113493368-chr2:113494411..113496403,2	MCF-7	breast:
2	chr2:113493806..113496306-chr2:113496451..113497981,2	K562	blood:
3	chr2:113494174..113497149-chr2:113498169..113501169,3	K562	blood:
4	chr2:113494683..113496811-chr2:113506121..113508526,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10187863	1.00[YRI][hapmap]
rs1040191	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17042341	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17042342	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17042344	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2048874	0.89[LWK][hapmap];0.80[MKK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs2138604	0.93[AFR][1000 genomes]
rs4260249	1.00[ASW][hapmap];1.00[CEU][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6542088	1.00[ASW][hapmap];1.00[CEU][hapmap];0.89[LWK][hapmap];1.00[MKK][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6542089	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6731822	1.00[CEU][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap]
rs7559917	0.93[AFR][1000 genomes]
rs908550	0.83[AFR][1000 genomes]

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	nsv428724	chr2:113376894-113555421	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1010106	chr2:113394981-113556071	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv526301	chr2:113451498-113495785	Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113484200-113497200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:113484400-113495800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr2:113484400-113495800	Weak transcription	GM12878-XiMat	blood
4	chr2:113484400-113496400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:113484400-113507400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:113484600-113507600	Weak transcription	Colonic Mucosa	Colon
7	chr2:113484800-113496200	Weak transcription	NHDF-Ad	bronchial
8	chr2:113484800-113507600	Weak transcription	Primary B cells from cord blood	blood
9	chr2:113486400-113495800	Weak transcription	HUVEC	blood vessel
10	chr2:113486600-113496200	Weak transcription	Placenta	Placenta
11	chr2:113486600-113511600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr2:113487600-113495800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:113487600-113495800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:113487600-113496000	Weak transcription	Primary hematopoietic stem cells	blood
15	chr2:113488200-113495800	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr2:113488200-113495800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr2:113488200-113507400	Weak transcription	Spleen	Spleen
18	chr2:113491000-113520800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr2:113491400-113498800	Weak transcription	Fetal Kidney	kidney
20	chr2:113491800-113507200	Weak transcription	Fetal Brain Female	brain
21	chr2:113492000-113497600	Weak transcription	K562	blood
22	chr2:113492200-113495800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr2:113492200-113497600	Weak transcription	Duodenum Mucosa	Duodenum
24	chr2:113492200-113512000	Weak transcription	Fetal Heart	heart
25	chr2:113492400-113497400	Weak transcription	NHLF	lung
26	chr2:113492400-113498000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr2:113492400-113498000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr2:113492400-113498000	Weak transcription	Fetal Lung	lung
29	chr2:113492400-113507600	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr2:113493000-113495800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr2:113494000-113496000	Enhancers	Osteobl	bone
32	chr2:113494000-113496800	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr2:113494200-113495800	Enhancers	Muscle Satellite Cultured Cells	--
34	chr2:113494200-113506400	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr2:113494200-113507400	Strong transcription	Fetal Thymus	thymus
36	chr2:113494200-113519600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:113494400-113496200	Enhancers	Stomach Mucosa	stomach
38	chr2:113494400-113496400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr2:113494400-113498000	Strong transcription	NHEK	skin
40	chr2:113494400-113500000	Strong transcription	Fetal Muscle Trunk	muscle
41	chr2:113494400-113505800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr2:113494400-113521000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr2:113494600-113496200	Genic enhancers	A549	lung
44	chr2:113494600-113498000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr2:113494600-113502400	Strong transcription	Fetal Stomach	stomach
46	chr2:113494600-113506400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr2:113494800-113496000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr2:113494800-113496000	Genic enhancers	HMEC	breast
49	chr2:113494800-113496400	Enhancers	Fetal Intestine Large	intestine
50	chr2:113494800-113496600	Enhancers	Fetal Intestine Small	intestine

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