Variant report

Variant	rs17344134
Chromosome Location	chr2:54848902-54848903
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:54814029..54817875-chr2:54846911..54850562,3	K562	blood:
2	chr2:54848170..54851894-chr2:54862208..54864352,3	MCF-7	breast:
3	chr2:54842967..54844485-chr2:54847665..54849553,2	MCF-7	breast:
4	chr2:54848261..54850641-chr2:54851753..54853915,3	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10181201	0.82[CEU][hapmap]
rs13405115	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs17343918	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs17344169	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17344176	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17344287	1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17344308	1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17344343	1.00[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17415829	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs17415857	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs17416130	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17416291	1.00[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17416364	1.00[CEU][hapmap]
rs17416820	0.87[EUR][1000 genomes]
rs17521468	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17521510	1.00[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17580255	1.00[CEU][hapmap]
rs17580855	1.00[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17580876	1.00[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1804472	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3796015	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs41281495	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41281497	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4258834	1.00[CEU][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4440005	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57810131	0.80[EUR][1000 genomes]
rs58143357	0.80[EUR][1000 genomes]
rs59228485	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61480394	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6755737	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72911560	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72911563	0.91[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	nsv998277	chr2:54710337-54849648	Genic enhancers Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 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	chr2:54829800-54859800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:54838800-54860200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:54838800-54893400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr2:54839000-54864200	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr2:54839200-54861800	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr2:54839200-54866000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:54839400-54853000	Strong transcription	Fetal Intestine Large	intestine
8	chr2:54839400-54895000	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr2:54839600-54852400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:54839600-54862600	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr2:54840800-54861400	Strong transcription	Cortex derived primary cultured neurospheres	brain
12	chr2:54841000-54861400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr2:54841000-54861400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:54841200-54861200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:54841200-54897800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:54841600-54852400	Strong transcription	HSMMtube	muscle
17	chr2:54841600-54856200	Strong transcription	Hela-S3	cervix
18	chr2:54841600-54857000	Strong transcription	HSMM	muscle
19	chr2:54841800-54857000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr2:54841800-54860000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:54841800-54860000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:54842000-54863600	Strong transcription	Fetal Brain Female	brain
23	chr2:54842400-54856800	Strong transcription	NH-A	brain
24	chr2:54842400-54861400	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr2:54842400-54862800	Strong transcription	NHEK	skin
26	chr2:54842600-54861000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
27	chr2:54842600-54892000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:54842800-54862400	Strong transcription	H1 Cell Line	embryonic stem cell
29	chr2:54842800-54867800	Strong transcription	H9 Cell Line	embryonic stem cell
30	chr2:54843000-54861400	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr2:54844200-54850000	Strong transcription	K562	blood
32	chr2:54844400-54860000	Strong transcription	Placenta Amnion	Placenta Amnion
33	chr2:54845400-54850000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr2:54846000-54850600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:54846000-54856600	Strong transcription	Duodenum Mucosa	Duodenum
36	chr2:54846000-54860800	Strong transcription	Primary hematopoietic stem cells	blood
37	chr2:54846200-54850400	Strong transcription	NHLF	lung
38	chr2:54846200-54856600	Strong transcription	GM12878-XiMat	blood
39	chr2:54846200-54857000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:54846200-54861400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr2:54846200-54864400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr2:54846400-54851800	Strong transcription	Muscle Satellite Cultured Cells	--
43	chr2:54846400-54856800	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr2:54846400-54856800	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr2:54846400-54859600	Strong transcription	Osteobl	bone
46	chr2:54846400-54860800	Strong transcription	Primary B cells from peripheral blood	blood
47	chr2:54846400-54895600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr2:54846400-54896600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr2:54846600-54849600	Strong transcription	Aorta	Aorta
50	chr2:54846600-54856600	Strong transcription	Fetal Intestine Small	intestine

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