Variant report

Variant	rs7301119
Chromosome Location	chr12:104236403-104236404
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3AK20	chr12:104233874-104236425	MCF-7	breast:	n/a	n/a
2	MAZ	chr12:104234025-104236471	IMR90	lung:	n/a	chr12:104235191-104235200 chr12:104235041-104235050 chr12:104235041-104235051 chr12:104235042-104235051 chr12:104235373-104235383 chr12:104235042-104235049
3	JUN	chr12:104234554-104236494	K562	blood:	n/a	chr12:104235299-104235308

No.	Distal block	Cell Line	Cell type
1	chr12:104156601..104158304-chr12:104234434..104236510,2	MCF-7	breast:
2	chr12:104192525..104200371-chr12:104233987..104238967,10	MCF-7	breast:
3	chr12:104234723..104236733-chr12:104679840..104682489,2	K562	blood:
4	chr12:104233909..104239694-chr12:104322835..104327398,8	K562	blood:
5	chr12:104234073..104236683-chr12:104349820..104352847,3	K562	blood:
6	chr12:104234122..104238773-chr12:104347839..104352988,5	MCF-7	breast:
7	chr12:104233713..104237034-chr12:104348727..104352026,4	MCF-7	breast:
8	chr12:104235342..104236842-chr12:104357860..104360492,2	K562	blood:
9	chr12:104233715..104236918-chr12:104321893..104325386,6	K562	blood:
10	chr12:104192326..104196273-chr12:104235179..104237558,3	K562	blood:

Variant related genes	Relation type
NT5DC3	TF binding region
ENSG00000204954	Chromatin interaction
ENSG00000265072	Chromatin interaction
ENSG00000214198	Chromatin interaction
ENSG00000136011	Chromatin interaction
ENSG00000198431	Chromatin interaction
ENSG00000139372	Chromatin interaction
ENSG00000166598	Chromatin interaction
ENSG00000111696	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10745986	0.81[EUR][1000 genomes]
rs10745987	0.81[EUR][1000 genomes]
rs10745988	0.81[EUR][1000 genomes]
rs10745990	0.81[EUR][1000 genomes]
rs10778297	0.81[EUR][1000 genomes]
rs10778298	0.81[EUR][1000 genomes]
rs10778299	0.81[EUR][1000 genomes]
rs10778300	0.81[EUR][1000 genomes]
rs10778302	0.81[EUR][1000 genomes]
rs10778303	0.80[EUR][1000 genomes]
rs10778304	0.80[EUR][1000 genomes]
rs10861126	0.83[EUR][1000 genomes]
rs10861134	0.81[EUR][1000 genomes]
rs10861135	0.81[EUR][1000 genomes]
rs10861137	0.81[EUR][1000 genomes]
rs10861139	0.81[EUR][1000 genomes]
rs10861140	0.80[EUR][1000 genomes]
rs11111816	0.94[ASN][1000 genomes]
rs11111817	0.94[ASN][1000 genomes]
rs11111823	0.81[EUR][1000 genomes]
rs11111824	0.81[EUR][1000 genomes]
rs11613427	0.81[EUR][1000 genomes]
rs2251979	0.94[ASN][1000 genomes]
rs2252000	0.94[ASN][1000 genomes]
rs2252088	0.94[ASN][1000 genomes]
rs2263954	0.94[ASN][1000 genomes]
rs2374350	0.81[EUR][1000 genomes]
rs2374351	0.81[EUR][1000 genomes]
rs2374352	0.81[EUR][1000 genomes]
rs2438116	0.94[ASN][1000 genomes]
rs2438389	0.94[ASN][1000 genomes]
rs2888809	0.81[EUR][1000 genomes]
rs2888810	0.81[EUR][1000 genomes]
rs3850016	0.81[EUR][1000 genomes]
rs3850017	0.81[EUR][1000 genomes]
rs3850018	0.81[EUR][1000 genomes]
rs3850019	0.81[EUR][1000 genomes]
rs3850020	0.80[EUR][1000 genomes]
rs4491322	0.81[EUR][1000 genomes]
rs4511355	0.81[EUR][1000 genomes]
rs4964118	0.81[EUR][1000 genomes]
rs4964308	0.81[EUR][1000 genomes]
rs4964322	0.81[EUR][1000 genomes]
rs4964323	0.81[EUR][1000 genomes]
rs4964326	0.80[EUR][1000 genomes]
rs4964327	0.80[EUR][1000 genomes]
rs4964328	0.80[EUR][1000 genomes]
rs4964329	0.80[EUR][1000 genomes]
rs4964330	0.80[EUR][1000 genomes]
rs6539104	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6539109	0.80[EUR][1000 genomes]
rs6539110	0.81[EUR][1000 genomes]
rs7136272	0.81[EUR][1000 genomes]
rs7136297	0.81[EUR][1000 genomes]
rs7138145	0.81[EUR][1000 genomes]
rs7138345	0.81[EUR][1000 genomes]
rs7138361	0.81[EUR][1000 genomes]
rs7294443	0.81[EUR][1000 genomes]
rs7295172	0.80[EUR][1000 genomes]
rs7295268	0.81[EUR][1000 genomes]
rs7295499	0.81[EUR][1000 genomes]
rs7298496	0.81[EUR][1000 genomes]
rs7298653	0.81[EUR][1000 genomes]
rs7298655	0.81[EUR][1000 genomes]
rs7299349	0.81[EUR][1000 genomes]
rs7301439	0.81[EUR][1000 genomes]
rs7310988	0.81[EUR][1000 genomes]
rs7311473	0.81[EUR][1000 genomes]
rs7314790	0.81[EUR][1000 genomes]
rs7488952	0.81[EUR][1000 genomes]
rs7956297	0.80[EUR][1000 genomes]
rs7957036	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7964542	0.81[EUR][1000 genomes]
rs7964654	0.81[EUR][1000 genomes]
rs7971070	0.80[EUR][1000 genomes]
rs7971105	0.81[EUR][1000 genomes]
rs9943761	0.81[EUR][1000 genomes]
rs9943762	0.81[EUR][1000 genomes]
rs9943844	0.81[EUR][1000 genomes]
rs9988931	0.81[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	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
3	esv3372343	chr12:104234047-104236595	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	34 gene(s)	inside rSNPs	n/a

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	chr12:104235800-104236600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:104235800-104236800	Weak transcription	Stomach Mucosa	stomach
4	chr12:104235800-104237600	Weak transcription	Fetal Intestine Large	intestine
5	chr12:104236000-104236600	Enhancers	Duodenum Mucosa	Duodenum
6	chr12:104236000-104237000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr12:104236000-104238000	Weak transcription	Psoas Muscle	Psoas
8	chr12:104236000-104240800	Weak transcription	NHDF-Ad	bronchial
9	chr12:104236000-104242000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:104236000-104242000	Weak transcription	Pancreas	Pancrea
11	chr12:104236000-104242800	Weak transcription	Aorta	Aorta
12	chr12:104236000-104243000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr12:104236000-104245000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr12:104236000-104252600	Weak transcription	Esophagus	oesophagus
15	chr12:104236000-104252600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr12:104236000-104253600	Weak transcription	Gastric	stomach
17	chr12:104236200-104236800	Weak transcription	Fetal Intestine Small	intestine
18	chr12:104236200-104237000	Enhancers	A549	lung
19	chr12:104236200-104237600	Weak transcription	Fetal Heart	heart
20	chr12:104236200-104238200	Weak transcription	HSMMtube	muscle
21	chr12:104236200-104240000	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr12:104236200-104240000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr12:104236200-104241200	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr12:104236200-104242000	Weak transcription	Fetal Lung	lung
25	chr12:104236200-104242400	Weak transcription	Stomach Smooth Muscle	stomach
26	chr12:104236200-104246400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr12:104236400-104236600	Enhancers	Liver	Liver
28	chr12:104236400-104236600	Enhancers	K562	blood
29	chr12:104236400-104237600	Weak transcription	Colon Smooth Muscle	Colon
30	chr12:104236400-104245000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr12:104236400-104246000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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