Variant report

Variant	rs12192665
Chromosome Location	chr6:25332130-25332131
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:25331246..25333492-chr6:25335317..25337907,2	K562	blood:
2	chr6:25326407..25328243-chr6:25331824..25333958,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10456321	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12192812	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12192951	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12196438	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12207748	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34247480	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5009711	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5009712	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5009714	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71555189	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71555190	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71555191	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71555192	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71555193	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71555194	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs760865	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7746360	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7746606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7752550	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7770388	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][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	nsv883485	chr6:25259137-25437986	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv883486	chr6:25260434-25422369	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv883487	chr6:25280119-25508868	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:25321600-25341200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:25323000-25333200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr6:25325200-25336400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:25325200-25336400	Weak transcription	Lung	lung
5	chr6:25326800-25333000	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr6:25327000-25332600	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr6:25327600-25332600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr6:25327600-25337400	Weak transcription	Brain Hippocampus Middle	brain
9	chr6:25328200-25336800	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr6:25328200-25338200	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr6:25328600-25333000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr6:25329000-25336000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr6:25329200-25332200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:25329400-25332400	Enhancers	Small Intestine	intestine
15	chr6:25329400-25336200	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr6:25329400-25336400	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr6:25329600-25332800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr6:25329600-25336400	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr6:25330000-25335200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr6:25330200-25335000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:25330400-25332800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr6:25330400-25337200	Weak transcription	Brain Substantia Nigra	brain
23	chr6:25330600-25333000	Weak transcription	Aorta	Aorta
24	chr6:25330600-25333000	Weak transcription	Left Ventricle	heart
25	chr6:25330600-25335800	Weak transcription	Esophagus	oesophagus
26	chr6:25330600-25335800	Weak transcription	Gastric	stomach
27	chr6:25331000-25335800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr6:25331000-25336000	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr6:25331200-25332200	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr6:25331200-25332200	Enhancers	Muscle Satellite Cultured Cells	--
31	chr6:25331200-25332200	Enhancers	Brain Germinal Matrix	brain
32	chr6:25331200-25332800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr6:25331200-25335600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr6:25331200-25336800	Enhancers	Right Atrium	heart
35	chr6:25331400-25332200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr6:25331400-25332200	Enhancers	Spleen	Spleen
37	chr6:25331400-25332600	Enhancers	Colonic Mucosa	Colon
38	chr6:25331400-25332600	Enhancers	NHDF-Ad	bronchial
39	chr6:25331400-25333400	Enhancers	Primary B cells from peripheral blood	blood
40	chr6:25331400-25333400	Enhancers	Duodenum Mucosa	Duodenum
41	chr6:25331400-25333800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr6:25331400-25335000	Weak transcription	Primary T cells from cord blood	blood
43	chr6:25331400-25335400	Enhancers	Stomach Mucosa	stomach
44	chr6:25331400-25336600	Enhancers	H1 Cell Line	embryonic stem cell
45	chr6:25331600-25333400	Enhancers	Adipose Nuclei	Adipose
46	chr6:25331800-25332600	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr6:25331800-25333000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr6:25331800-25333000	Weak transcription	Placenta	Placenta
49	chr6:25331800-25336400	Weak transcription	Pancreas	Pancrea
50	chr6:25331800-25341800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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