Variant report

Variant	rs7135387
Chromosome Location	chr12:64457211-64457212
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:64455258..64457226-chr12:64464081..64465592,2	MCF-7	breast:
2	chr12:64451854..64454168-chr12:64456396..64458094,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11831686	1.00[MEX][hapmap]
rs11835784	1.00[GIH][hapmap]
rs1378776	1.00[EUR][1000 genomes]
rs17120486	1.00[EUR][1000 genomes]
rs4516057	1.00[MEX][hapmap]
rs7135485	1.00[EUR][1000 genomes]
rs7303224	0.82[ASW][hapmap];1.00[EUR][1000 genomes]
rs7303379	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73319374	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs789715	1.00[EUR][1000 genomes]
rs789716	1.00[EUR][1000 genomes]
rs789717	1.00[EUR][1000 genomes]
rs789718	1.00[EUR][1000 genomes]
rs7968527	1.00[GIH][hapmap]
rs7977095	1.00[EUR][1000 genomes]
rs806070	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64432000-64466400	Weak transcription	Pancreas	Pancrea
2	chr12:64433600-64460800	Weak transcription	Aorta	Aorta
3	chr12:64433600-64474200	Weak transcription	Left Ventricle	heart
4	chr12:64433800-64458600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr12:64433800-64460000	Weak transcription	NH-A	brain
6	chr12:64434000-64458200	Weak transcription	Fetal Intestine Large	intestine
7	chr12:64434000-64481600	Weak transcription	HUVEC	blood vessel
8	chr12:64436600-64474200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr12:64436800-64458600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr12:64436800-64458600	Weak transcription	Fetal Stomach	stomach
11	chr12:64436800-64474200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr12:64438200-64458200	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr12:64438200-64458400	Weak transcription	Duodenum Mucosa	Duodenum
14	chr12:64440000-64458400	Weak transcription	Fetal Intestine Small	intestine
15	chr12:64440000-64479200	Weak transcription	Esophagus	oesophagus
16	chr12:64441000-64475000	Weak transcription	Hela-S3	cervix
17	chr12:64441400-64458000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr12:64445200-64474200	Weak transcription	Fetal Lung	lung
19	chr12:64449000-64458600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr12:64449600-64458400	Weak transcription	Ovary	ovary
21	chr12:64449800-64458400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr12:64450000-64458200	Weak transcription	HSMMtube	muscle
23	chr12:64450200-64458200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr12:64451000-64458400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr12:64451200-64476600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr12:64451400-64458200	Weak transcription	HSMM	muscle
27	chr12:64452600-64458200	Weak transcription	Fetal Brain Female	brain
28	chr12:64453000-64458200	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr12:64453000-64458200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr12:64453000-64458400	Weak transcription	Fetal Muscle Leg	muscle
31	chr12:64453000-64458600	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr12:64453000-64458600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr12:64453000-64458600	Weak transcription	Fetal Brain Male	brain
34	chr12:64453000-64465400	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr12:64453000-64476600	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr12:64453200-64458400	Weak transcription	Brain Germinal Matrix	brain
37	chr12:64453200-64461600	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr12:64453400-64458400	Weak transcription	Brain Cingulate Gyrus	brain
39	chr12:64453400-64467000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr12:64453600-64472800	Weak transcription	Brain Anterior Caudate	brain
41	chr12:64453800-64458200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr12:64453800-64473600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr12:64453800-64476600	Weak transcription	Brain Substantia Nigra	brain
44	chr12:64454000-64457800	Weak transcription	NHDF-Ad	bronchial
45	chr12:64454000-64459800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr12:64454400-64458400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr12:64454800-64458400	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr12:64454800-64476600	Weak transcription	Brain Hippocampus Middle	brain
49	chr12:64455000-64474200	Weak transcription	Colon Smooth Muscle	Colon
50	chr12:64455200-64481600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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