Variant report

Variant	rs10191688
Chromosome Location	chr2:33545309-33545310
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10189109	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1058840	0.87[YRI][hapmap];0.81[AFR][1000 genomes]
rs11684935	0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2276591	0.91[CEU][hapmap];0.91[CHB][hapmap];0.96[JPT][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4569454	0.80[CHB][hapmap]
rs6737863	0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs723042	0.95[CHB][hapmap];0.83[JPT][hapmap];0.92[YRI][hapmap];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7580131	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv873791	chr2:33489975-33586776	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv1012967	chr2:33533340-33638312	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv535627	chr2:33533340-33638312	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33492400-33547400	Weak transcription	Fetal Intestine Small	intestine
2	chr2:33517200-33545800	Weak transcription	Fetal Lung	lung
3	chr2:33517200-33546400	Weak transcription	Brain Angular Gyrus	brain
4	chr2:33523600-33546200	Weak transcription	K562	blood
5	chr2:33523800-33550600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:33524200-33546600	Weak transcription	Small Intestine	intestine
7	chr2:33529600-33546400	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr2:33529800-33546600	Weak transcription	Psoas Muscle	Psoas
9	chr2:33529800-33561000	Weak transcription	HUVEC	blood vessel
10	chr2:33529800-33609400	Weak transcription	Right Ventricle	heart
11	chr2:33537400-33545800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr2:33538400-33545600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:33538400-33545800	Strong transcription	Osteobl	bone
14	chr2:33539600-33545600	Weak transcription	Fetal Muscle Leg	muscle
15	chr2:33540800-33580800	Weak transcription	Placenta	Placenta
16	chr2:33541000-33546400	Weak transcription	Aorta	Aorta
17	chr2:33541000-33547000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr2:33541200-33547200	Weak transcription	Gastric	stomach
19	chr2:33541800-33546000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:33542000-33572200	Weak transcription	Liver	Liver
21	chr2:33542200-33545600	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr2:33543000-33547000	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr2:33543000-33547200	Weak transcription	Lung	lung
24	chr2:33543200-33545800	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr2:33543200-33546200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:33543600-33545800	Weak transcription	Colon Smooth Muscle	Colon
27	chr2:33543600-33546200	Weak transcription	NH-A	brain
28	chr2:33543600-33546400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr2:33544600-33545400	Genic enhancers	NHLF	lung
30	chr2:33544600-33545800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:33544600-33546200	Enhancers	NHDF-Ad	bronchial
32	chr2:33544600-33546400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:33544600-33547400	Enhancers	Ovary	ovary
34	chr2:33544800-33547200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:33544800-33548400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr2:33545000-33546000	Weak transcription	Fetal Muscle Trunk	muscle
37	chr2:33545000-33546200	Weak transcription	Spleen	Spleen
38	chr2:33545000-33547200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr2:33545000-33547600	Enhancers	Fetal Heart	heart
40	chr2:33545200-33545400	Genic enhancers	Fetal Stomach	stomach
41	chr2:33545200-33545400	Enhancers	Left Ventricle	heart
42	chr2:33545200-33545400	Enhancers	Right Atrium	heart
43	chr2:33545200-33545800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr2:33545200-33546600	Weak transcription	Stomach Smooth Muscle	stomach
45	chr2:33545200-33546800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr2:33545200-33549600	Weak transcription	Brain Substantia Nigra	brain

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