Variant report

Variant	rs73410877
Chromosome Location	chr12:120551819-120551820
allele	A/G
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120548888..120559202-chr12:120724492..120734002,35	MCF-7	breast:
2	chr12:120550994..120553800-chr12:120627908..120629484,2	K562	blood:
3	chr12:120535439..120538373-chr12:120550744..120552253,2	K562	blood:
4	chr12:120551430..120553069-chr12:120632996..120634781,2	MCF-7	breast:
5	chr12:120551105..120556435-chr12:120727138..120732848,13	K562	blood:
6	chr12:120551667..120557354-chr12:120726466..120731431,13	MCF-7	breast:
7	chr12:120551112..120557922-chr12:120727181..120731830,12	K562	blood:
8	chr12:120549747..120553515-chr12:120703925..120705527,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000200795	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000111737	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10161261	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10849733	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10849734	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11064985	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11064990	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11064995	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11064997	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11065005	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11065010	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11065019	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11065024	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12307887	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12312294	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12313412	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12314638	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12316670	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12321330	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12425507	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13377680	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs59709506	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61748076	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7300507	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7307905	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73410866	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7953284	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7953368	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7957793	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7964192	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7964299	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7964301	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7970773	0.87[EUR][1000 genomes]
rs7970908	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs7974285	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3525916	chr12:120345352-120665045	Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	esv3525917	chr12:120345352-120665045	Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
3	nsv899555	chr12:120519124-120840522	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	499 gene(s)	inside rSNPs	diseases
4	nsv519657	chr12:120533696-120676090	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
5	nsv560433	chr12:120533696-120676090	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120525800-120553400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr12:120533800-120553000	Weak transcription	Fetal Kidney	kidney
3	chr12:120534400-120553200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr12:120539200-120552600	Weak transcription	Fetal Brain Male	brain
5	chr12:120539600-120552200	Strong transcription	Fetal Stomach	stomach
6	chr12:120540000-120553000	Weak transcription	HSMMtube	muscle
7	chr12:120541800-120552600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:120541800-120552800	Weak transcription	Brain Substantia Nigra	brain
9	chr12:120541800-120552800	Weak transcription	NH-A	brain
10	chr12:120542200-120553000	Weak transcription	Aorta	Aorta
11	chr12:120542400-120552400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr12:120543000-120552800	Weak transcription	Osteobl	bone
13	chr12:120543400-120552600	Weak transcription	Ovary	ovary
14	chr12:120543400-120553000	Weak transcription	Fetal Heart	heart
15	chr12:120543400-120553600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:120544000-120552800	Weak transcription	Colonic Mucosa	Colon
17	chr12:120544200-120552200	Weak transcription	Hela-S3	cervix
18	chr12:120544400-120552800	Weak transcription	NHDF-Ad	bronchial
19	chr12:120544400-120553200	Strong transcription	Fetal Intestine Small	intestine
20	chr12:120545400-120552800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr12:120546400-120552400	Weak transcription	HepG2	liver
22	chr12:120546400-120552800	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr12:120546600-120552400	Weak transcription	Brain Angular Gyrus	brain
24	chr12:120546600-120552600	Weak transcription	HMEC	breast
25	chr12:120546600-120553200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr12:120546800-120552200	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr12:120546800-120552400	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr12:120547000-120552200	Weak transcription	Esophagus	oesophagus
29	chr12:120547000-120552200	Weak transcription	Gastric	stomach
30	chr12:120547000-120552200	Weak transcription	Pancreas	Pancrea
31	chr12:120547000-120552600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr12:120547400-120552000	Weak transcription	Brain Germinal Matrix	brain
33	chr12:120548000-120552800	Weak transcription	Psoas Muscle	Psoas
34	chr12:120548600-120552800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr12:120548600-120553000	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr12:120548800-120552600	Weak transcription	Brain Anterior Caudate	brain
37	chr12:120548800-120552600	Weak transcription	Stomach Mucosa	stomach
38	chr12:120548800-120552800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr12:120548800-120553200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr12:120549000-120552200	Weak transcription	Small Intestine	intestine
41	chr12:120549000-120552400	Weak transcription	HUVEC	blood vessel
42	chr12:120549000-120552800	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr12:120549000-120552800	Strong transcription	Fetal Muscle Leg	muscle
44	chr12:120549200-120552200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr12:120549200-120552400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr12:120549200-120552400	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr12:120549200-120552600	Weak transcription	Rectal Smooth Muscle	rectum
48	chr12:120549200-120553000	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr12:120549200-120553600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr12:120549200-120553600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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