Variant report

Variant	rs2764911
Chromosome Location	chr1:59399161-59399162
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:59244053..59249750-chr1:59393075..59399809,12	K562	blood:
2	chr1:59246732..59251125-chr1:59394532..59399253,8	MCF-7	breast:
3	chr1:59244308..59248659-chr1:59395754..59399809,6	K562	blood:
4	chr1:59392641..59396388-chr1:59399124..59401431,3	K562	blood:
5	chr1:59388758..59390537-chr1:59398556..59401033,2	K562	blood:

Variant related genes	Relation type
ENSG00000234807	Chromatin interaction
ENSG00000177606	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10158831	0.83[EUR][1000 genomes]
rs10889121	0.96[CEU][hapmap];0.93[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11207331	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12090072	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12122077	0.86[JPT][hapmap]
rs2038863	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2477745	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2716105	0.86[JPT][hapmap];0.87[MEX][hapmap];0.81[TSI][hapmap]
rs2716107	0.80[JPT][hapmap]
rs2716113	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2716115	0.89[CEU][hapmap];0.86[CHD][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2716127	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2764914	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2764915	0.89[CEU][hapmap];0.91[MEX][hapmap];0.83[TSI][hapmap];0.86[EUR][1000 genomes]
rs2764917	0.89[CEU][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2953376	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3015311	0.81[JPT][hapmap];0.82[MEX][hapmap]
rs3015312	1.00[CEU][hapmap];0.93[CHB][hapmap];0.90[JPT][hapmap];0.91[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4528141	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4912382	0.84[CHB][hapmap];0.95[JPT][hapmap]
rs927743	0.84[MEX][hapmap]

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	nsv1005354	chr1:59283572-59535812	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv829959	chr1:59340330-59503085	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv546316	chr1:59368947-59457815	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59386600-59399800	Enhancers	Fetal Intestine Small	intestine
2	chr1:59389000-59407000	Weak transcription	Spleen	Spleen
3	chr1:59389200-59401400	Weak transcription	Left Ventricle	heart
4	chr1:59390200-59399600	Enhancers	Placenta Amnion	Placenta Amnion
5	chr1:59391200-59399600	Enhancers	Fetal Intestine Large	intestine
6	chr1:59392000-59399600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:59392600-59399400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:59393600-59400800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:59393600-59406800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr1:59395800-59400000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:59396000-59400400	Enhancers	Hela-S3	cervix
12	chr1:59396600-59399800	Enhancers	HMEC	breast
13	chr1:59397200-59399400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:59397600-59399200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:59397600-59399400	Enhancers	Muscle Satellite Cultured Cells	--
16	chr1:59397600-59399400	Enhancers	NHDF-Ad	bronchial
17	chr1:59397600-59399600	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr1:59397600-59399600	Enhancers	Osteobl	bone
19	chr1:59397800-59399200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:59397800-59399200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:59397800-59399400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr1:59397800-59399400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:59397800-59399400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:59397800-59399400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr1:59397800-59399600	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr1:59397800-59399600	Enhancers	NHLF	lung
27	chr1:59398000-59399200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr1:59398000-59399400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr1:59398000-59399600	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr1:59398200-59399200	Enhancers	HSMM	muscle
31	chr1:59398200-59399600	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr1:59398200-59399600	Enhancers	Duodenum Mucosa	Duodenum
33	chr1:59398200-59399800	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr1:59398400-59399200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr1:59398400-59399200	Enhancers	Primary T cells fromperipheralblood	blood
36	chr1:59398400-59399200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr1:59398400-59399400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr1:59398400-59399400	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr1:59398400-59399400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr1:59398400-59399400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr1:59398400-59399400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr1:59398400-59399400	Enhancers	HepG2	liver
43	chr1:59398400-59399600	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr1:59398400-59399600	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr1:59398600-59399200	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr1:59398600-59399200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr1:59398600-59399200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr1:59398600-59399200	Enhancers	Fetal Stomach	stomach
49	chr1:59398600-59399200	Enhancers	HSMMtube	muscle
50	chr1:59398600-59399400	Enhancers	Primary B cells from peripheral blood	blood

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