Variant report

Variant	rs6750383
Chromosome Location	chr2:10919132-10919133
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10929699	0.94[ASN][1000 genomes]
rs1686510	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1686511	0.88[ASN][1000 genomes]
rs1734340	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1734426	0.88[ASN][1000 genomes]
rs1734427	0.88[ASN][1000 genomes]
rs1734433	0.88[ASN][1000 genomes]
rs1734435	0.88[ASN][1000 genomes]
rs1734436	0.85[ASN][1000 genomes]
rs1734440	0.95[ASN][1000 genomes]
rs1844386	0.82[ASN][1000 genomes]
rs28652982	0.83[ASN][1000 genomes]
rs2969881	0.90[ASN][1000 genomes]
rs2969882	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4668695	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4807	0.88[ASN][1000 genomes]

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	nsv1000953	chr2:10717304-10921805	Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv535584	chr2:10717304-10921805	Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1000731	chr2:10758657-10943882	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10908600-10924400	Weak transcription	Psoas Muscle	Psoas
2	chr2:10913200-10920200	Weak transcription	NH-A	brain
3	chr2:10913400-10920200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:10913600-10919800	Weak transcription	Osteobl	bone
5	chr2:10914200-10920000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:10914600-10920200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr2:10914600-10922400	Weak transcription	Fetal Kidney	kidney
8	chr2:10914600-10931600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr2:10915000-10920000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr2:10915000-10920000	Weak transcription	Brain Angular Gyrus	brain
11	chr2:10915000-10921600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:10915200-10920200	Weak transcription	HSMMtube	muscle
13	chr2:10915200-10923000	Weak transcription	Fetal Brain Male	brain
14	chr2:10915600-10920000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr2:10915600-10920200	Weak transcription	HMEC	breast
16	chr2:10915600-10920400	Weak transcription	Stomach Mucosa	stomach
17	chr2:10915600-10921800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:10915600-10939800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr2:10915600-10950400	Weak transcription	Right Atrium	heart
20	chr2:10915800-10920000	Weak transcription	Fetal Lung	lung
21	chr2:10915800-10929000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:10916000-10920400	Weak transcription	Hela-S3	cervix
23	chr2:10916000-10921800	Weak transcription	Small Intestine	intestine
24	chr2:10916200-10920000	Weak transcription	HUVEC	blood vessel
25	chr2:10916200-10920400	Weak transcription	Colon Smooth Muscle	Colon
26	chr2:10916200-10939200	Strong transcription	Fetal Stomach	stomach
27	chr2:10916400-10921400	Strong transcription	Fetal Brain Female	brain
28	chr2:10916400-10922200	Weak transcription	Fetal Heart	heart
29	chr2:10916400-10923200	Weak transcription	NHDF-Ad	bronchial
30	chr2:10916400-10923600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:10916400-10923600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr2:10916400-10928600	Strong transcription	Fetal Intestine Small	intestine
33	chr2:10916400-10931200	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr2:10916400-10931600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr2:10916400-10938600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr2:10916600-10919800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr2:10916600-10943800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr2:10916800-10920000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr2:10916800-10933800	Strong transcription	Spleen	Spleen
40	chr2:10916800-10937400	Strong transcription	Lung	lung
41	chr2:10916800-10942400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:10917000-10919200	Strong transcription	Fetal Intestine Large	intestine
43	chr2:10917000-10920600	Strong transcription	Placenta	Placenta
44	chr2:10917000-10926600	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr2:10917000-10930400	Strong transcription	GM12878-XiMat	blood
46	chr2:10917000-10930600	Strong transcription	NHEK	skin
47	chr2:10917000-10933600	Strong transcription	Primary T cells from cord blood	blood
48	chr2:10917000-10939400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr2:10917200-10919200	Strong transcription	Brain Inferior Temporal Lobe	brain
50	chr2:10917200-10925800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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