Variant report

Variant	rs12692114
Chromosome Location	chr2:127421391-127421392
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:127421256..127423531-chr2:127529484..127531021,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12468957	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2016257	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28387104	0.86[ASN][1000 genomes]
rs28387108	0.90[ASN][1000 genomes]
rs4662685	0.94[ASN][1000 genomes]
rs4663038	0.90[ASN][1000 genomes]
rs6431170	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002265	chr2:127029745-127733458	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv535919	chr2:127029745-127733458	Strong transcription Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv583011	chr2:127386211-127489031	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv875000	chr2:127402833-127423066	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv875001	chr2:127402833-127431312	Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv875005	chr2:127414661-127423066	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv583013	chr2:127417052-127421391	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv1813823	chr2:127417657-127441005	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv875006	chr2:127418459-127423066	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127415000-127423200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr2:127415200-127428000	Weak transcription	Gastric	stomach
3	chr2:127415600-127422800	Enhancers	Right Atrium	heart
4	chr2:127415600-127423200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr2:127415600-127424600	Enhancers	Right Ventricle	heart
6	chr2:127416000-127421400	Weak transcription	Liver	Liver
7	chr2:127416000-127422600	Genic enhancers	Fetal Muscle Leg	muscle
8	chr2:127416000-127423600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:127416200-127429000	Weak transcription	Fetal Intestine Small	intestine
10	chr2:127416200-127430000	Weak transcription	Fetal Intestine Large	intestine
11	chr2:127416200-127430200	Weak transcription	Aorta	Aorta
12	chr2:127416600-127425000	Enhancers	Fetal Heart	heart
13	chr2:127416800-127421800	Enhancers	Primary B cells from cord blood	blood
14	chr2:127416800-127425400	Weak transcription	Small Intestine	intestine
15	chr2:127417000-127421400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:127417000-127422400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr2:127417000-127423200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:127417000-127423400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:127417000-127424000	Enhancers	Psoas Muscle	Psoas
20	chr2:127417200-127421400	Weak transcription	Stomach Mucosa	stomach
21	chr2:127417200-127421600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:127417200-127422000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr2:127417200-127423000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:127417200-127423000	Enhancers	Primary hematopoietic stem cells	blood
25	chr2:127417200-127423400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr2:127417200-127423800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr2:127417200-127424000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr2:127417200-127425000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr2:127417200-127433000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr2:127417200-127443600	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr2:127417400-127424000	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr2:127417600-127421400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr2:127417600-127421600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:127417600-127423400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr2:127417600-127424600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr2:127417800-127423400	Weak transcription	HSMM	muscle
37	chr2:127417800-127426800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr2:127418000-127423200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr2:127418000-127423200	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr2:127418000-127424200	Genic enhancers	Fetal Stomach	stomach
41	chr2:127418000-127425400	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr2:127418200-127423400	Weak transcription	HSMMtube	muscle
43	chr2:127418200-127423800	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr2:127418200-127423800	Weak transcription	NHLF	lung
45	chr2:127418400-127421800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
46	chr2:127418800-127421800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr2:127418800-127422200	Weak transcription	Brain Hippocampus Middle	brain
48	chr2:127418800-127423400	Enhancers	Duodenum Mucosa	Duodenum
49	chr2:127419000-127422000	Enhancers	Stomach Smooth Muscle	stomach
50	chr2:127419000-127424000	Enhancers	Primary B cells from peripheral blood	blood

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