Variant report

Variant	rs902
Chromosome Location	chr1:92148227-92148228
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:92143583..92146461-chr1:92147900..92150725,3	K562	blood:
2	chr1:92148164..92151549-chr1:92152320..92156969,4	K562	blood:
3	chr1:92147184..92150173-chr1:92170826..92172983,2	K562	blood:
4	chr1:92143375..92146604-chr1:92147900..92150729,3	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11165262	1.00[JPT][hapmap]
rs11165300	1.00[JPT][hapmap]
rs11807260	1.00[JPT][hapmap]
rs11807271	1.00[JPT][hapmap]
rs17512269	1.00[JPT][hapmap]
rs2046736	1.00[JPT][hapmap]
rs2765885	1.00[ASN][1000 genomes]
rs6662887	1.00[JPT][hapmap]
rs6693438	1.00[JPT][hapmap]
rs913059	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009560	chr1:91897078-92270781	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats 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	14 gene(s)	inside rSNPs	diseases
2	nsv1012864	chr1:92067100-92827761	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv535029	chr1:92067100-92827761	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	esv2763581	chr1:92068967-92203803	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv1014990	chr1:92084142-92206674	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv530438	chr1:92091957-92827760	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv1010179	chr1:92140209-92655952	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv535030	chr1:92140209-92655952	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92136000-92148600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:92138200-92148600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:92138400-92148600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:92138400-92148600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr1:92138400-92149800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:92139600-92148600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:92139600-92150000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr1:92139600-92150000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:92141800-92148600	Weak transcription	Ovary	ovary
10	chr1:92142000-92148600	Weak transcription	Pancreas	Pancrea
11	chr1:92143400-92149400	Weak transcription	Stomach Smooth Muscle	stomach
12	chr1:92143600-92148400	Weak transcription	NHLF	lung
13	chr1:92143800-92152200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr1:92143800-92154200	Weak transcription	Aorta	Aorta
15	chr1:92144000-92148600	Weak transcription	Right Ventricle	heart
16	chr1:92144200-92148600	Weak transcription	Left Ventricle	heart
17	chr1:92144600-92149400	Weak transcription	Fetal Intestine Small	intestine
18	chr1:92144800-92148400	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr1:92145200-92148600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr1:92145200-92148600	Strong transcription	NHDF-Ad	bronchial
21	chr1:92145200-92159000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr1:92145400-92148400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:92145600-92149400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr1:92146600-92148600	Weak transcription	Fetal Stomach	stomach
25	chr1:92146600-92148800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr1:92146600-92157000	Weak transcription	Fetal Brain Male	brain
27	chr1:92146800-92148400	Weak transcription	Fetal Intestine Large	intestine
28	chr1:92146800-92148600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:92146800-92149600	Weak transcription	Colon Smooth Muscle	Colon
30	chr1:92146800-92149600	Weak transcription	Fetal Kidney	kidney
31	chr1:92146800-92150000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr1:92146800-92163000	Weak transcription	Hela-S3	cervix
33	chr1:92147000-92148600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr1:92147000-92148600	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr1:92147000-92149600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr1:92147000-92150200	Weak transcription	HUVEC	blood vessel
37	chr1:92147200-92151600	Weak transcription	Psoas Muscle	Psoas
38	chr1:92147400-92148600	Strong transcription	Placenta	Placenta
39	chr1:92147400-92149600	Strong transcription	Liver	Liver
40	chr1:92147400-92164600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr1:92147600-92148800	Strong transcription	Adipose Nuclei	Adipose
42	chr1:92147600-92149000	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr1:92147600-92149800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr1:92147600-92150400	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr1:92147800-92148600	Strong transcription	Fetal Lung	lung
46	chr1:92147800-92149000	Weak transcription	Esophagus	oesophagus
47	chr1:92147800-92149000	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr1:92147800-92149400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr1:92147800-92150200	Weak transcription	Osteobl	bone
50	chr1:92148000-92148600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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