Variant report

Variant	rs2134055
Chromosome Location	chr2:48073011-48073012
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:48071439..48074255-chr2:48079840..48082748,2	K562	blood:
2	chr2:48071695..48073953-chr2:48129717..48131691,2	K562	blood:
3	chr2:48070745..48074263-chr2:48075364..48078166,3	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10490303	1.00[CEU][hapmap];0.85[YRI][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10495948	1.00[CEU][hapmap];0.85[YRI][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17036952	1.00[CEU][hapmap];0.91[AMR][1000 genomes]
rs17036971	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17037021	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17037040	1.00[CEU][hapmap];0.85[YRI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17037055	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs17037062	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17037064	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs2881863	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3136242	0.91[AMR][1000 genomes]
rs3136274	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3136286	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4381823	1.00[CEU][hapmap];0.85[YRI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56682209	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56881113	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs58057481	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs58552166	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs59624704	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs60118201	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60154625	0.84[AFR][1000 genomes]
rs60303023	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72876814	0.93[EUR][1000 genomes]
rs7560678	0.91[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998096	chr2:47939614-48131697	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1009769	chr2:47972642-48509765	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv535680	chr2:47972642-48509765	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv930955	chr2:48040218-48121218	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv530831	chr2:48059709-48632317	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv519831	chr2:48072855-48566031	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48043400-48088600	Weak transcription	Pancreas	Pancrea
2	chr2:48048600-48080600	Weak transcription	NHLF	lung
3	chr2:48049200-48096000	Weak transcription	Gastric	stomach
4	chr2:48051600-48073400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:48058200-48074000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:48060200-48093000	Weak transcription	Psoas Muscle	Psoas
7	chr2:48061400-48093800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr2:48061600-48076000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr2:48062600-48080800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr2:48063000-48076000	Weak transcription	Brain Angular Gyrus	brain
11	chr2:48063600-48074400	Weak transcription	Colonic Mucosa	Colon
12	chr2:48063800-48081800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:48063800-48083600	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr2:48064000-48095200	Weak transcription	Spleen	Spleen
15	chr2:48064200-48081800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr2:48064400-48084800	Weak transcription	NHEK	skin
17	chr2:48065000-48074200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:48065000-48081000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr2:48065200-48086600	Weak transcription	Fetal Brain Female	brain
20	chr2:48065400-48073200	Weak transcription	Fetal Intestine Small	intestine
21	chr2:48065400-48074000	Weak transcription	Fetal Stomach	stomach
22	chr2:48065400-48098200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:48065400-48114000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr2:48066000-48085200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:48066000-48097400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr2:48066000-48100400	Weak transcription	Thymus	Thymus
27	chr2:48066200-48080000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr2:48066200-48080800	Weak transcription	HSMMtube	muscle
29	chr2:48066200-48084000	Weak transcription	Duodenum Mucosa	Duodenum
30	chr2:48066200-48085400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:48066200-48094600	Weak transcription	Fetal Kidney	kidney
32	chr2:48066400-48073200	Weak transcription	Brain Germinal Matrix	brain
33	chr2:48066400-48074400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr2:48066400-48083200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr2:48066400-48085400	Weak transcription	Osteobl	bone
36	chr2:48066400-48088400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr2:48066400-48092200	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr2:48066400-48097600	Weak transcription	Stomach Smooth Muscle	stomach
39	chr2:48066600-48076000	Weak transcription	Liver	Liver
40	chr2:48066800-48073200	Weak transcription	Fetal Muscle Trunk	muscle
41	chr2:48066800-48074000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr2:48066800-48074400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr2:48066800-48076600	Weak transcription	Brain Anterior Caudate	brain
44	chr2:48066800-48080800	Weak transcription	Fetal Lung	lung
45	chr2:48066800-48081000	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr2:48066800-48081400	Weak transcription	NHDF-Ad	bronchial
47	chr2:48066800-48083400	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr2:48066800-48083600	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr2:48066800-48084200	Weak transcription	Primary hematopoietic stem cells	blood
50	chr2:48066800-48088400	Weak transcription	Fetal Muscle Leg	muscle

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