Variant report

Variant	rs60987129
Chromosome Location	chr12:64435171-64435172
allele	-/ATTTATTTTTTT
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:64432833..64435222-chr12:64436511..64438802,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196935	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10878102	0.85[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs11175238	0.84[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs1162788	0.85[ASN][1000 genomes]
rs12228437	0.87[ASN][1000 genomes]
rs1344400	0.82[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs1378778	0.85[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs1456046	0.82[ASN][1000 genomes]
rs2168411	0.86[ASN][1000 genomes]
rs28366579	0.87[ASN][1000 genomes]
rs4553444	0.85[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs4763134	0.87[ASN][1000 genomes]
rs6581529	0.85[ASN][1000 genomes]
rs6581530	0.85[ASN][1000 genomes]
rs7963940	0.82[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs990309	0.87[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	nsv832442	chr12:64228071-64442771	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv3351487	chr12:64420364-64763950	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64418600-64456400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr12:64428800-64450800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr12:64430200-64439800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:64431200-64437200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:64432000-64466400	Weak transcription	Pancreas	Pancrea
6	chr12:64433400-64435200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr12:64433400-64436400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr12:64433600-64436400	Weak transcription	Fetal Muscle Leg	muscle
9	chr12:64433600-64436400	Weak transcription	HSMM	muscle
10	chr12:64433600-64436600	Weak transcription	Fetal Kidney	kidney
11	chr12:64433600-64437800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr12:64433600-64439400	Weak transcription	NHEK	skin
13	chr12:64433600-64439600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr12:64433600-64439800	Weak transcription	Esophagus	oesophagus
15	chr12:64433600-64449600	Weak transcription	Psoas Muscle	Psoas
16	chr12:64433600-64452400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr12:64433600-64460800	Weak transcription	Aorta	Aorta
18	chr12:64433600-64474200	Weak transcription	Left Ventricle	heart
19	chr12:64433800-64435400	Weak transcription	Adipose Nuclei	Adipose
20	chr12:64433800-64436200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr12:64433800-64436400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr12:64433800-64436400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr12:64433800-64436400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr12:64433800-64436400	Weak transcription	Fetal Stomach	stomach
25	chr12:64433800-64436400	Weak transcription	Ovary	ovary
26	chr12:64433800-64436400	Weak transcription	Small Intestine	intestine
27	chr12:64433800-64436600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr12:64433800-64437600	Weak transcription	Fetal Brain Female	brain
29	chr12:64433800-64437600	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr12:64433800-64438000	Weak transcription	Fetal Intestine Small	intestine
31	chr12:64433800-64439600	Weak transcription	Brain Hippocampus Middle	brain
32	chr12:64433800-64449400	Weak transcription	HSMMtube	muscle
33	chr12:64433800-64452000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr12:64433800-64458600	Weak transcription	Stomach Smooth Muscle	stomach
35	chr12:64433800-64460000	Weak transcription	NH-A	brain
36	chr12:64434000-64436200	Weak transcription	A549	lung
37	chr12:64434000-64436400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr12:64434000-64436400	Weak transcription	Brain Substantia Nigra	brain
39	chr12:64434000-64436400	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr12:64434000-64436400	Weak transcription	Fetal Lung	lung
41	chr12:64434000-64436400	Weak transcription	Osteobl	bone
42	chr12:64434000-64436600	Weak transcription	Colon Smooth Muscle	Colon
43	chr12:64434000-64437800	Weak transcription	Fetal Heart	heart
44	chr12:64434000-64443000	Weak transcription	Brain Anterior Caudate	brain
45	chr12:64434000-64449400	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr12:64434000-64449800	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr12:64434000-64451800	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr12:64434000-64456600	Weak transcription	HMEC	breast
49	chr12:64434000-64458200	Weak transcription	Fetal Intestine Large	intestine
50	chr12:64434000-64481600	Weak transcription	HUVEC	blood vessel

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