Variant report

Variant	rs3732208
Chromosome Location	chr2:128239822-128239823
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	chr2:128239618..128241448-chr2:128243319..128244992,3	K562	blood:
2	chr2:128239618..128241448-chr2:128243319..128244992,2	K562	blood:

Variant related genes	Relation type
ENSG00000163166	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10190872	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10206221	0.87[AMR][1000 genomes]
rs12470481	0.95[ASN][1000 genomes]
rs12475217	0.89[ASN][1000 genomes]
rs12621149	0.93[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs12987418	0.95[ASN][1000 genomes]
rs13399231	0.93[CHB][hapmap];0.88[JPT][hapmap]
rs13415053	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs1549767	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs17015347	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs173013	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17522960	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2078028	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2176595	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2566564	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2679402	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs334139	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs334140	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334142	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334147	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs334148	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs334149	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs334150	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs334153	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs334155	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs334162	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4423553	1.00[CHB][hapmap];0.88[JPT][hapmap];0.82[AMR][1000 genomes]
rs4662582	0.87[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs55981410	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56217122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56234754	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58462277	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59934067	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61342606	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6707425	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6713317	0.87[CHB][hapmap];0.88[JPT][hapmap];0.88[YRI][hapmap]
rs6722447	0.93[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs6727506	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs6731270	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6734816	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6748790	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6757654	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72958594	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72958600	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7570609	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs7574209	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7574215	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7576217	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7598346	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7603777	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs777547	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs777549	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs777550	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs777551	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs777557	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs777558	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs777559	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs777561	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs777562	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs777563	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]

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	nsv875014	chr2:128178415-128328375	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128223600-128268800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:128224000-128241800	Weak transcription	Small Intestine	intestine
3	chr2:128226200-128244000	Weak transcription	Psoas Muscle	Psoas
4	chr2:128227800-128240000	Weak transcription	Brain Angular Gyrus	brain
5	chr2:128227800-128240000	Weak transcription	Pancreas	Pancrea
6	chr2:128229000-128257000	Weak transcription	Stomach Mucosa	stomach
7	chr2:128232600-128240000	Weak transcription	Fetal Brain Male	brain
8	chr2:128234000-128242600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr2:128235000-128240200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:128235200-128270000	Strong transcription	Dnd41	blood
11	chr2:128237200-128242800	Strong transcription	Primary T helper cells PMA-I stimulated	--
12	chr2:128237200-128243400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:128237200-128244000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:128237400-128241400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:128237400-128243000	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr2:128237400-128252400	Strong transcription	Fetal Muscle Trunk	muscle
17	chr2:128237400-128262400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:128237600-128240400	Strong transcription	Right Ventricle	heart
19	chr2:128237600-128240600	Strong transcription	Skeletal Muscle Female	skeletal muscle
20	chr2:128237600-128240600	Strong transcription	NHLF	lung
21	chr2:128237600-128240800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr2:128237600-128241000	Strong transcription	Gastric	stomach
23	chr2:128237600-128241000	Strong transcription	Spleen	Spleen
24	chr2:128237600-128241800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr2:128237600-128242400	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr2:128237600-128242400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr2:128237600-128242800	Strong transcription	Primary T cells from cord blood	blood
28	chr2:128237600-128242800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr2:128237600-128242800	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr2:128237600-128242800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr2:128237600-128242800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr2:128237600-128243000	Strong transcription	Primary B cells from peripheral blood	blood
33	chr2:128237600-128243400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:128237600-128243600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:128237600-128243800	Strong transcription	Duodenum Mucosa	Duodenum
36	chr2:128237600-128243800	Strong transcription	Osteobl	bone
37	chr2:128237600-128244000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:128237600-128244600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr2:128237600-128244800	Strong transcription	Esophagus	oesophagus
40	chr2:128237600-128246600	Strong transcription	Fetal Stomach	stomach
41	chr2:128237600-128247200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr2:128237600-128247600	Strong transcription	Thymus	Thymus
43	chr2:128237600-128248000	Strong transcription	Fetal Intestine Large	intestine
44	chr2:128237600-128251400	Strong transcription	Rectal Smooth Muscle	rectum
45	chr2:128237600-128252200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr2:128237600-128252200	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr2:128237600-128255000	Strong transcription	Fetal Muscle Leg	muscle
48	chr2:128237600-128255200	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr2:128237600-128255400	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr2:128237600-128256000	Strong transcription	Duodenum Smooth Muscle	Duodenum

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