Variant report

Variant	rs1968539
Chromosome Location	chr2:127453301-127453302
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:127452820..127454923-chr2:127455408..127457651,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10174393	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10191577	0.81[CEU][hapmap];0.94[CHB][hapmap];0.82[ASN][1000 genomes]
rs1050967	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12617050	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1530149	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1964424	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2165227	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2176428	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2176429	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2280238	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2280239	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2280240	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3791345	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs382844	0.95[YRI][hapmap]
rs56224235	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6431172	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6709803	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6713909	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6732145	0.96[CEU][hapmap];0.94[CHB][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs71393823	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs893801	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs935022	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs935024	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs938733	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002265	chr2:127029745-127733458	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv535919	chr2:127029745-127733458	Strong transcription Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv583011	chr2:127386211-127489031	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv875007	chr2:127426697-127454230	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv965826	chr2:127445780-127453618	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3528056	chr2:127448510-127455016	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv3528057	chr2:127448510-127455016	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv583014	chr2:127450911-127455669	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv583015	chr2:127453301-127455404	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127422200-127453400	Weak transcription	Colonic Mucosa	Colon
2	chr2:127434200-127457200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr2:127435200-127457400	Weak transcription	Fetal Kidney	kidney
4	chr2:127439800-127457600	Weak transcription	Brain Hippocampus Middle	brain
5	chr2:127442000-127456800	Weak transcription	Osteobl	bone
6	chr2:127443600-127458800	Strong transcription	Primary T cells from cord blood	blood
7	chr2:127444000-127456400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr2:127444000-127458200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr2:127445200-127456000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:127445400-127456400	Strong transcription	Stomach Smooth Muscle	stomach
11	chr2:127446000-127454600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:127446400-127453400	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr2:127446400-127456200	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr2:127446400-127456200	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr2:127446600-127456600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr2:127446800-127458200	Weak transcription	NHDF-Ad	bronchial
17	chr2:127447400-127455800	Strong transcription	Ovary	ovary
18	chr2:127447400-127456200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:127447400-127457000	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr2:127447600-127456000	Strong transcription	Fetal Lung	lung
21	chr2:127447600-127456200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:127447600-127456200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr2:127447600-127456200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr2:127447600-127456400	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr2:127447600-127456800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr2:127448200-127456400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:127448400-127456200	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr2:127448600-127455200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr2:127449000-127455800	Strong transcription	K562	blood
30	chr2:127449600-127456000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr2:127449800-127456600	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr2:127450000-127453600	Weak transcription	Psoas Muscle	Psoas
33	chr2:127450000-127454200	Strong transcription	Fetal Muscle Trunk	muscle
34	chr2:127450400-127453400	Strong transcription	Skeletal Muscle Male	skeletal muscle
35	chr2:127450400-127456000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr2:127450400-127456200	Strong transcription	Aorta	Aorta
37	chr2:127450400-127456400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr2:127450600-127454400	Strong transcription	Fetal Muscle Leg	muscle
39	chr2:127450600-127456600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr2:127450800-127453400	Strong transcription	Spleen	Spleen
41	chr2:127450800-127455600	Strong transcription	Primary B cells from cord blood	blood
42	chr2:127450800-127456000	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr2:127450800-127456600	Strong transcription	Primary B cells from peripheral blood	blood
44	chr2:127450800-127458200	Weak transcription	Small Intestine	intestine
45	chr2:127451000-127453400	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr2:127451000-127454400	Strong transcription	Pancreas	Pancrea
47	chr2:127451000-127455200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr2:127451000-127455200	Strong transcription	Thymus	Thymus
49	chr2:127451000-127456200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr2:127451000-127456200	Strong transcription	NHLF	lung

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