Variant report

Variant	rs12228292
Chromosome Location	chr12:64180635-64180636
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	chr12:64172395..64175865-chr12:64176316..64181928,12	K562	blood:
2	chr12:64178892..64180813-chr12:64194580..64197206,2	K562	blood:

Variant related genes	Relation type
ENSG00000118600	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11175173	0.99[ASN][1000 genomes]
rs11175174	0.80[EUR][1000 genomes]
rs1876465	0.89[EUR][1000 genomes]
rs949956	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046836	chr12:63392391-64377169	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	esv2759905	chr12:63901801-64252172	Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	esv2758312	chr12:63910416-64252172	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv899171	chr12:63916682-64202233	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv430514	chr12:63939733-64183598	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv2751110	chr12:63939733-64274680	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv832441	chr12:64063776-64252172	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	esv3485882	chr12:64178755-64196017	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	esv3485883	chr12:64178755-64196017	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	esv3488108	chr12:64178778-64195988	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	esv3488119	chr12:64178778-64195988	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64174400-64184000	Weak transcription	Esophagus	oesophagus
2	chr12:64174400-64184000	Weak transcription	Lung	lung
3	chr12:64174400-64189200	Weak transcription	Pancreas	Pancrea
4	chr12:64174400-64200200	Weak transcription	Spleen	Spleen
5	chr12:64174400-64201800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:64174400-64203400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr12:64174400-64204400	Weak transcription	Small Intestine	intestine
8	chr12:64174400-64204800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:64174600-64180800	Weak transcription	Stomach Smooth Muscle	stomach
10	chr12:64174600-64183800	Weak transcription	Psoas Muscle	Psoas
11	chr12:64174600-64186200	Weak transcription	Aorta	Aorta
12	chr12:64174600-64187800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr12:64174600-64199400	Weak transcription	Brain Substantia Nigra	brain
14	chr12:64174600-64200200	Weak transcription	HSMMtube	muscle
15	chr12:64174600-64200600	Weak transcription	Thymus	Thymus
16	chr12:64174600-64201000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr12:64174600-64204400	Weak transcription	Colonic Mucosa	Colon
18	chr12:64174800-64199200	Weak transcription	Stomach Mucosa	stomach
19	chr12:64174800-64208000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr12:64174800-64208000	Weak transcription	Fetal Brain Male	brain
21	chr12:64174800-64208600	Weak transcription	Fetal Brain Female	brain
22	chr12:64175000-64180800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr12:64175000-64180800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr12:64175000-64183800	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr12:64175000-64184000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr12:64175000-64184600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr12:64175000-64186000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr12:64175000-64186000	Weak transcription	Brain Germinal Matrix	brain
29	chr12:64175000-64189000	Weak transcription	Fetal Intestine Small	intestine
30	chr12:64175000-64200200	Weak transcription	Brain Anterior Caudate	brain
31	chr12:64175200-64181800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr12:64175200-64184800	Strong transcription	Placenta	Placenta
33	chr12:64175200-64185600	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr12:64175200-64199400	Weak transcription	NHLF	lung
35	chr12:64175200-64202400	Weak transcription	Fetal Heart	heart
36	chr12:64175200-64205200	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr12:64175400-64189400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr12:64175400-64200800	Weak transcription	Colon Smooth Muscle	Colon
39	chr12:64175400-64201800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr12:64175400-64202600	Weak transcription	Hela-S3	cervix
41	chr12:64175400-64202800	Weak transcription	HUVEC	blood vessel
42	chr12:64175400-64204400	Weak transcription	Brain Angular Gyrus	brain
43	chr12:64175600-64181200	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr12:64175600-64183600	Weak transcription	Fetal Kidney	kidney
45	chr12:64175600-64186400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr12:64175600-64189800	Weak transcription	HepG2	liver
47	chr12:64175600-64208000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr12:64175800-64181800	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr12:64176200-64181200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr12:64176200-64185200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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