Variant report

Variant	rs7954647
Chromosome Location	chr12:64468835-64468836
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:64467253..64469378-chr12:64472684..64474437,2	MCF-7	breast:
2	chr12:64467983..64470128-chr12:64471401..64473671,2	MCF-7	breast:
3	chr12:64237463..64239648-chr12:64466467..64469068,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196935	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11829405	1.00[AMR][1000 genomes]
rs11829640	1.00[AMR][1000 genomes]
rs11833363	1.00[AMR][1000 genomes]
rs7135485	1.00[AMR][1000 genomes]
rs7303224	1.00[AMR][1000 genomes]
rs73321324	1.00[AMR][1000 genomes]
rs7955621	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:71 , 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	chr12:64453600-64472800	Weak transcription	Brain Anterior Caudate	brain
11	chr12:64453800-64473600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:64453800-64476600	Weak transcription	Brain Substantia Nigra	brain
13	chr12:64454800-64476600	Weak transcription	Brain Hippocampus Middle	brain
14	chr12:64455000-64474200	Weak transcription	Colon Smooth Muscle	Colon
15	chr12:64455200-64481600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr12:64457000-64510600	Weak transcription	HepG2	liver
17	chr12:64457600-64472600	Weak transcription	Lung	lung
18	chr12:64457800-64474000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:64457800-64474400	Weak transcription	Small Intestine	intestine
20	chr12:64459000-64469200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr12:64459000-64472600	Weak transcription	Fetal Intestine Large	intestine
22	chr12:64459000-64472600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr12:64459000-64474000	Weak transcription	Ovary	ovary
24	chr12:64459000-64476600	Weak transcription	Brain Cingulate Gyrus	brain
25	chr12:64459000-64479800	Weak transcription	Gastric	stomach
26	chr12:64459200-64474200	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr12:64460200-64472800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr12:64460200-64474000	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr12:64460200-64476600	Weak transcription	Brain Germinal Matrix	brain
30	chr12:64460200-64476800	Weak transcription	Fetal Kidney	kidney
31	chr12:64460800-64473600	Weak transcription	HMEC	breast
32	chr12:64460800-64476600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr12:64461000-64474400	Weak transcription	Stomach Smooth Muscle	stomach
34	chr12:64461400-64469600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr12:64461600-64470200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr12:64461800-64471800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr12:64463200-64472800	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr12:64464200-64470000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr12:64464800-64472600	Weak transcription	HSMMtube	muscle
40	chr12:64465000-64472600	Weak transcription	Adipose Nuclei	Adipose
41	chr12:64465600-64470000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr12:64466000-64476600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr12:64466400-64470000	Strong transcription	HSMM	muscle
44	chr12:64466600-64472600	Weak transcription	NHLF	lung
45	chr12:64466800-64469200	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr12:64466800-64472000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr12:64466800-64472600	Weak transcription	Fetal Muscle Leg	muscle
48	chr12:64466800-64474400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr12:64467000-64469600	Weak transcription	NHEK	skin
50	chr12:64467000-64470600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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