Variant report

Variant	rs11694765
Chromosome Location	chr2:33504308-33504309
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11678479	0.94[EUR][1000 genomes]
rs11682866	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11689160	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11689377	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11694122	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17012763	1.00[CEU][hapmap]
rs17038524	1.00[CEU][hapmap]
rs55782411	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs55958215	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56195754	0.94[EUR][1000 genomes]
rs56240304	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56386751	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6708335	1.00[CEU][hapmap]
rs7591896	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998167	chr2:33074313-33541100	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv535623	chr2:33074313-33541100	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	nsv518285	chr2:33502505-33509219	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33472000-33516600	Weak transcription	Psoas Muscle	Psoas
2	chr2:33487000-33509800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr2:33490600-33515600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr2:33491800-33504400	Weak transcription	Colonic Mucosa	Colon
5	chr2:33492000-33515800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr2:33492200-33516600	Weak transcription	Brain Hippocampus Middle	brain
7	chr2:33492200-33516600	Weak transcription	Brain Substantia Nigra	brain
8	chr2:33492400-33547400	Weak transcription	Fetal Intestine Small	intestine
9	chr2:33492600-33508400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:33493600-33515200	Weak transcription	Fetal Lung	lung
11	chr2:33493800-33515400	Weak transcription	Colon Smooth Muscle	Colon
12	chr2:33494200-33506200	Weak transcription	Fetal Heart	heart
13	chr2:33494200-33516000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr2:33494200-33516200	Weak transcription	Fetal Kidney	kidney
15	chr2:33494600-33515200	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr2:33499200-33508000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:33500200-33504800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr2:33501200-33505400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:33501200-33505600	Weak transcription	NHLF	lung
20	chr2:33501200-33511000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:33501200-33516400	Weak transcription	Stomach Mucosa	stomach
22	chr2:33501200-33528800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:33501400-33516600	Weak transcription	K562	blood
24	chr2:33501600-33505400	Strong transcription	NH-A	brain
25	chr2:33501600-33509000	Weak transcription	HUVEC	blood vessel
26	chr2:33501800-33517800	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr2:33502400-33504400	Weak transcription	Placenta	Placenta
28	chr2:33502400-33504800	Weak transcription	Liver	Liver
29	chr2:33502400-33505800	Weak transcription	Fetal Stomach	stomach
30	chr2:33502400-33512400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:33502400-33512600	Weak transcription	Lung	lung
32	chr2:33502400-33514000	Strong transcription	Osteobl	bone
33	chr2:33502400-33516000	Weak transcription	Brain Angular Gyrus	brain
34	chr2:33502400-33516600	Weak transcription	Pancreas	Pancrea
35	chr2:33502400-33516600	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr2:33502400-33516800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:33502400-33516800	Weak transcription	Esophagus	oesophagus
38	chr2:33502600-33504800	Weak transcription	Left Ventricle	heart
39	chr2:33502600-33505000	Weak transcription	Right Ventricle	heart
40	chr2:33502600-33505400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr2:33502600-33505800	Weak transcription	Aorta	Aorta
42	chr2:33502600-33515200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr2:33502600-33515400	Weak transcription	NHDF-Ad	bronchial
44	chr2:33502600-33515800	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr2:33502600-33537000	Weak transcription	Fetal Intestine Large	intestine
46	chr2:33502800-33504600	Weak transcription	Fetal Muscle Leg	muscle
47	chr2:33503200-33505400	Weak transcription	Fetal Muscle Trunk	muscle
48	chr2:33503200-33515000	Weak transcription	Ovary	ovary
49	chr2:33503400-33515600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr2:33503600-33515400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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