Variant report

Variant	rs2750136
Chromosome Location	chr14:69046473-69046474
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs17105844	0.85[AFR][1000 genomes]
rs2107342	1.00[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	nsv832822	chr14:68874640-69060272	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv1795754	chr14:69017623-69079110	Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv1832715	chr14:69017623-69079110	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 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	chr14:69036800-69052000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr14:69037000-69052600	Weak transcription	Colonic Mucosa	Colon
3	chr14:69037400-69054000	Weak transcription	Fetal Kidney	kidney
4	chr14:69041000-69047800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr14:69041000-69048200	Enhancers	Placenta	Placenta
6	chr14:69041200-69048200	Enhancers	HSMMtube	muscle
7	chr14:69041400-69047200	Enhancers	HSMM	muscle
8	chr14:69041400-69047600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr14:69041400-69048000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr14:69042000-69050400	Weak transcription	Ovary	ovary
11	chr14:69042000-69052000	Weak transcription	Brain Anterior Caudate	brain
12	chr14:69042200-69047000	Weak transcription	Small Intestine	intestine
13	chr14:69042200-69053800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr14:69043000-69046600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr14:69043400-69047200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:69043400-69047400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr14:69043600-69048200	Enhancers	Fetal Muscle Leg	muscle
18	chr14:69043600-69050200	Weak transcription	Psoas Muscle	Psoas
19	chr14:69043800-69047400	Weak transcription	Colon Smooth Muscle	Colon
20	chr14:69044000-69047000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr14:69044400-69046600	Weak transcription	Lung	lung
22	chr14:69044600-69047200	Weak transcription	Stomach Smooth Muscle	stomach
23	chr14:69044600-69051400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr14:69044600-69052200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr14:69044800-69046800	Weak transcription	Fetal Intestine Small	intestine
26	chr14:69044800-69047200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr14:69044800-69047200	Weak transcription	Fetal Lung	lung
28	chr14:69045000-69050200	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr14:69045000-69050200	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr14:69045000-69053200	Weak transcription	Gastric	stomach
31	chr14:69045200-69047400	Enhancers	Pancreas	Pancrea
32	chr14:69045200-69048200	Enhancers	Placenta Amnion	Placenta Amnion
33	chr14:69045200-69052200	Weak transcription	Stomach Mucosa	stomach
34	chr14:69045400-69047400	Enhancers	Spleen	Spleen
35	chr14:69045600-69047000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr14:69045600-69047800	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr14:69045600-69050200	Weak transcription	Adipose Nuclei	Adipose
38	chr14:69045600-69050200	Weak transcription	Esophagus	oesophagus
39	chr14:69045600-69050800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr14:69045800-69046800	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr14:69045800-69047000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr14:69045800-69050200	Weak transcription	Left Ventricle	heart
43	chr14:69045800-69050800	Weak transcription	HMEC	breast
44	chr14:69045800-69051000	Weak transcription	NHEK	skin
45	chr14:69045800-69053800	Weak transcription	Right Atrium	heart
46	chr14:69046000-69046600	Enhancers	Primary neutrophils fromperipheralblood	blood
47	chr14:69046000-69046800	Enhancers	Fetal Thymus	thymus
48	chr14:69046000-69047000	Weak transcription	HUVEC	blood vessel
49	chr14:69046000-69050200	Weak transcription	HepG2	liver
50	chr14:69046200-69047400	Enhancers	Primary B cells from cord blood	blood

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