Variant report

Variant	rs789710
Chromosome Location	chr12:64472803-64472804
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:64464103..64466762-chr12:64471161..64473294,2	MCF-7	breast:
2	chr12:64467983..64470128-chr12:64471401..64473671,2	MCF-7	breast:
3	chr12:64467253..64469378-chr12:64472684..64474437,2	MCF-7	breast:
4	chr12:64439818..64441797-chr12:64472288..64474636,2	MCF-7	breast:

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs789714	0.87[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs789719	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][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:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64433600-64474200	Weak transcription	Left Ventricle	heart
2	chr12:64434000-64481600	Weak transcription	HUVEC	blood vessel
3	chr12:64436600-64474200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr12:64436800-64474200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr12:64440000-64479200	Weak transcription	Esophagus	oesophagus
6	chr12:64441000-64475000	Weak transcription	Hela-S3	cervix
7	chr12:64445200-64474200	Weak transcription	Fetal Lung	lung
8	chr12:64451200-64476600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr12:64453000-64476600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr12:64453800-64473600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:64453800-64476600	Weak transcription	Brain Substantia Nigra	brain
12	chr12:64454800-64476600	Weak transcription	Brain Hippocampus Middle	brain
13	chr12:64455000-64474200	Weak transcription	Colon Smooth Muscle	Colon
14	chr12:64455200-64481600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:64457000-64510600	Weak transcription	HepG2	liver
16	chr12:64457800-64474000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr12:64457800-64474400	Weak transcription	Small Intestine	intestine
18	chr12:64459000-64474000	Weak transcription	Ovary	ovary
19	chr12:64459000-64476600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr12:64459000-64479800	Weak transcription	Gastric	stomach
21	chr12:64459200-64474200	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr12:64460200-64474000	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr12:64460200-64476600	Weak transcription	Brain Germinal Matrix	brain
24	chr12:64460200-64476800	Weak transcription	Fetal Kidney	kidney
25	chr12:64460800-64473600	Weak transcription	HMEC	breast
26	chr12:64460800-64476600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr12:64461000-64474400	Weak transcription	Stomach Smooth Muscle	stomach
28	chr12:64466000-64476600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr12:64466800-64474400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr12:64467000-64474400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr12:64467000-64474400	Weak transcription	Fetal Brain Male	brain
32	chr12:64467000-64474400	Weak transcription	Pancreas	Pancrea
33	chr12:64467000-64482400	Weak transcription	Aorta	Aorta
34	chr12:64467200-64476800	Weak transcription	NH-A	brain
35	chr12:64468400-64473000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr12:64471000-64474200	Strong transcription	NHDF-Ad	bronchial
37	chr12:64471000-64482400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr12:64471400-64474000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr12:64471800-64474600	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr12:64472000-64474400	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr12:64472000-64474800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr12:64472000-64481600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr12:64472200-64474000	Weak transcription	A549	lung
44	chr12:64472200-64474200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr12:64472200-64474200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr12:64472200-64480400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr12:64472200-64482000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr12:64472400-64474200	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr12:64472400-64474200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr12:64472400-64474600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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