Variant report

Variant	rs2576977
Chromosome Location	chr12:104236625-104236626
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:104192525..104200371-chr12:104233987..104238967,10	MCF-7	breast:
2	chr12:104234723..104236733-chr12:104679840..104682489,2	K562	blood:
3	chr12:104233909..104239694-chr12:104322835..104327398,8	K562	blood:
4	chr12:104234073..104236683-chr12:104349820..104352847,3	K562	blood:
5	chr12:104234122..104238773-chr12:104347839..104352988,5	MCF-7	breast:
6	chr12:104233713..104237034-chr12:104348727..104352026,4	MCF-7	breast:
7	chr12:104235342..104236842-chr12:104357860..104360492,2	K562	blood:
8	chr12:104233715..104236918-chr12:104321893..104325386,6	K562	blood:
9	chr12:104192326..104196273-chr12:104235179..104237558,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000265072	Chromatin interaction
ENSG00000139372	Chromatin interaction
ENSG00000198431	Chromatin interaction
ENSG00000204954	Chromatin interaction
ENSG00000166598	Chromatin interaction
ENSG00000111696	Chromatin interaction
ENSG00000214198	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11111809	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1370410	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1370776	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1370780	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1370784	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1805214	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2245322	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2256434	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34187551	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34031	chr12:104114277-104298546	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104235400-104237600	Weak transcription	Small Intestine	intestine
2	chr12:104235800-104236800	Weak transcription	Stomach Mucosa	stomach
3	chr12:104235800-104237600	Weak transcription	Fetal Intestine Large	intestine
4	chr12:104236000-104237000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr12:104236000-104238000	Weak transcription	Psoas Muscle	Psoas
6	chr12:104236000-104240800	Weak transcription	NHDF-Ad	bronchial
7	chr12:104236000-104242000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:104236000-104242000	Weak transcription	Pancreas	Pancrea
9	chr12:104236000-104242800	Weak transcription	Aorta	Aorta
10	chr12:104236000-104243000	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr12:104236000-104245000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr12:104236000-104252600	Weak transcription	Esophagus	oesophagus
13	chr12:104236000-104252600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr12:104236000-104253600	Weak transcription	Gastric	stomach
15	chr12:104236200-104236800	Weak transcription	Fetal Intestine Small	intestine
16	chr12:104236200-104237000	Enhancers	A549	lung
17	chr12:104236200-104237600	Weak transcription	Fetal Heart	heart
18	chr12:104236200-104238200	Weak transcription	HSMMtube	muscle
19	chr12:104236200-104240000	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr12:104236200-104240000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr12:104236200-104241200	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr12:104236200-104242000	Weak transcription	Fetal Lung	lung
23	chr12:104236200-104242400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr12:104236200-104246400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr12:104236400-104237600	Weak transcription	Colon Smooth Muscle	Colon
26	chr12:104236400-104245000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr12:104236400-104246000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr12:104236600-104237600	Weak transcription	Duodenum Mucosa	Duodenum
29	chr12:104236600-104237600	Weak transcription	K562	blood
30	chr12:104236600-104241400	Weak transcription	Liver	Liver
31	chr12:104236600-104248400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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