Variant report

Variant	rs2037931
Chromosome Location	chr14:78062414-78062415
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11625310	0.83[EUR][1000 genomes]
rs11625912	0.80[EUR][1000 genomes]
rs176894	0.97[EUR][1000 genomes]
rs176902	0.82[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs2037933	0.92[EUR][1000 genomes]
rs2364603	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7143656	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][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	nsv832835	chr14:77906706-78095207	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1053810	chr14:77987871-78148320	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv1051554	chr14:78004196-78122980	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78013200-78066200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:78021800-78068400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:78021800-78071600	Weak transcription	Colon Smooth Muscle	Colon
4	chr14:78042400-78066600	Weak transcription	Fetal Brain Female	brain
5	chr14:78047400-78070000	Weak transcription	Fetal Brain Male	brain
6	chr14:78048200-78067200	Weak transcription	Hela-S3	cervix
7	chr14:78049400-78066400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr14:78051400-78066200	Weak transcription	Pancreas	Pancrea
9	chr14:78051400-78070200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr14:78051600-78063000	Weak transcription	Left Ventricle	heart
11	chr14:78051600-78072600	Weak transcription	Psoas Muscle	Psoas
12	chr14:78055000-78081600	Weak transcription	Right Ventricle	heart
13	chr14:78056600-78072800	Weak transcription	Placenta	Placenta
14	chr14:78056800-78070000	Weak transcription	Gastric	stomach
15	chr14:78057000-78064000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr14:78057000-78065000	Weak transcription	Lung	lung
17	chr14:78057400-78070000	Weak transcription	Spleen	Spleen
18	chr14:78057600-78081400	Weak transcription	Rectal Smooth Muscle	rectum
19	chr14:78057800-78065000	Weak transcription	Small Intestine	intestine
20	chr14:78058000-78063600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr14:78058800-78063800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr14:78059000-78063800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:78059000-78065800	Weak transcription	Colonic Mucosa	Colon
24	chr14:78060000-78062800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr14:78060200-78066800	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr14:78060200-78069400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr14:78060400-78063400	Strong transcription	HMEC	breast
28	chr14:78060400-78065000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr14:78060400-78065400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr14:78060600-78063000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr14:78060600-78063600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr14:78060600-78065200	Weak transcription	Fetal Kidney	kidney
33	chr14:78060800-78062600	Strong transcription	HSMMtube	muscle
34	chr14:78060800-78062800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr14:78060800-78063400	Genic enhancers	Primary B cells from cord blood	blood
36	chr14:78060800-78063400	Genic enhancers	Primary B cells from peripheral blood	blood
37	chr14:78060800-78063400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr14:78060800-78063400	Strong transcription	Fetal Stomach	stomach
39	chr14:78060800-78063600	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr14:78060800-78063600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr14:78060800-78064000	Strong transcription	Muscle Satellite Cultured Cells	--
42	chr14:78061000-78062800	Strong transcription	Brain Cingulate Gyrus	brain
43	chr14:78061000-78063000	Strong transcription	Brain Substantia Nigra	brain
44	chr14:78061000-78063200	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr14:78061000-78063200	Strong transcription	Brain Germinal Matrix	brain
46	chr14:78061000-78063200	Strong transcription	Thymus	Thymus
47	chr14:78061000-78063400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr14:78061000-78063400	Strong transcription	Liver	Liver
49	chr14:78061000-78063600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr14:78061000-78063800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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