Variant report

Variant	rs12695644
Chromosome Location	chr3:135844938-135844939
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10222451	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10512990	0.90[EUR][1000 genomes]
rs12330335	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13068210	0.81[AMR][1000 genomes]
rs13079205	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13081671	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13082532	0.92[EUR][1000 genomes]
rs13321220	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1393786	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1393787	0.87[EUR][1000 genomes]
rs28519617	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28535121	0.83[EUR][1000 genomes]
rs28669017	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34864445	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35352346	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6439629	0.81[AMR][1000 genomes]
rs67109185	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs67589653	0.91[EUR][1000 genomes]
rs6767060	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6784219	0.80[ASN][1000 genomes]
rs6786582	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6792630	0.91[EUR][1000 genomes]
rs6793835	0.91[EUR][1000 genomes]
rs6799056	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6799320	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9653930	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9834966	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9848926	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9870122	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9881400	0.87[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869409	chr3:135649101-136164174	Strong transcription Genic enhancers Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:135803400-135848000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr3:135803600-135860600	Weak transcription	Esophagus	oesophagus
3	chr3:135803800-135860000	Weak transcription	NHLF	lung
4	chr3:135810400-135848000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr3:135810400-135855400	Weak transcription	Osteobl	bone
6	chr3:135810400-135859800	Weak transcription	NHDF-Ad	bronchial
7	chr3:135810400-135861000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr3:135822000-135861000	Weak transcription	Ovary	ovary
9	chr3:135822800-135870000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr3:135823200-135868400	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr3:135824400-135845000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr3:135824400-135854400	Weak transcription	Pancreas	Pancrea
13	chr3:135825200-135846800	Weak transcription	Colon Smooth Muscle	Colon
14	chr3:135825400-135845800	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr3:135829600-135845600	Weak transcription	Brain Substantia Nigra	brain
16	chr3:135829600-135846800	Weak transcription	Brain Anterior Caudate	brain
17	chr3:135830000-135845000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr3:135831400-135869400	Weak transcription	Psoas Muscle	Psoas
19	chr3:135831400-135874800	Weak transcription	Fetal Brain Male	brain
20	chr3:135831800-135859800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr3:135833000-135853200	Weak transcription	Fetal Heart	heart
22	chr3:135833000-135859800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr3:135833000-135860600	Weak transcription	Right Ventricle	heart
24	chr3:135833200-135845000	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr3:135833200-135860600	Weak transcription	HSMMtube	muscle
26	chr3:135833600-135845000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr3:135833800-135845000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr3:135833800-135845000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr3:135833800-135845200	Weak transcription	Fetal Lung	lung
30	chr3:135834000-135845000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr3:135834200-135846400	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr3:135834800-135845200	Weak transcription	Left Ventricle	heart
33	chr3:135838800-135845000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr3:135839000-135845000	Weak transcription	Brain Hippocampus Middle	brain
35	chr3:135840600-135845400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr3:135843000-135845000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr3:135843000-135845200	Strong transcription	Gastric	stomach
38	chr3:135843200-135845000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr3:135843200-135845000	Weak transcription	Aorta	Aorta
40	chr3:135843200-135845200	Strong transcription	Fetal Stomach	stomach
41	chr3:135843400-135866400	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr3:135843800-135873800	Weak transcription	Colonic Mucosa	Colon
43	chr3:135844200-135845000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr3:135844200-135845000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr3:135844200-135845800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr3:135844200-135846200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr3:135844400-135845400	Strong transcription	Fetal Muscle Trunk	muscle
48	chr3:135844400-135845600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr3:135844400-135845800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
50	chr3:135844400-135845800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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