Variant report

Variant	rs4763132
Chromosome Location	chr12:64314158-64314159
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:64311913..64317096-chr12:64612694..64617132,6	MCF-7	breast:
2	chr12:64238988..64240941-chr12:64313933..64315670,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000243024	Chromatin interaction
ENSG00000174206	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10784373	0.87[CEU][hapmap];0.80[EUR][1000 genomes]
rs11175208	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs3911400	0.91[CEU][hapmap];0.87[EUR][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	nsv1046836	chr12:63392391-64377169	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4763132	SLC16A7	cis	cerebellum	SCAN
rs4763132	SRGAP1	cis	cerebellum	SCAN

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64298800-64334000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:64306200-64314200	Enhancers	Fetal Intestine Small	intestine
3	chr12:64307800-64314200	Enhancers	Fetal Brain Male	brain
4	chr12:64308400-64314800	Enhancers	HMEC	breast
5	chr12:64308800-64314200	Enhancers	HSMM	muscle
6	chr12:64309400-64314200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr12:64310200-64319600	Weak transcription	Right Ventricle	heart
8	chr12:64311200-64314200	Enhancers	HSMMtube	muscle
9	chr12:64312200-64324200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr12:64312400-64314200	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr12:64312400-64331600	Weak transcription	Right Atrium	heart
12	chr12:64312400-64385000	Weak transcription	Aorta	Aorta
13	chr12:64312600-64314200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr12:64312600-64314200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:64312600-64314600	Enhancers	Muscle Satellite Cultured Cells	--
16	chr12:64312600-64316200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr12:64312600-64316800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr12:64312600-64317000	Enhancers	NHDF-Ad	bronchial
19	chr12:64312800-64316200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr12:64312800-64316400	Weak transcription	Colon Smooth Muscle	Colon
21	chr12:64312800-64318800	Weak transcription	Brain Anterior Caudate	brain
22	chr12:64312800-64324200	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr12:64312800-64324600	Weak transcription	Fetal Lung	lung
24	chr12:64312800-64331200	Weak transcription	Brain Cingulate Gyrus	brain
25	chr12:64312800-64331400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr12:64313000-64315200	Weak transcription	Fetal Kidney	kidney
27	chr12:64313000-64316200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr12:64313000-64316400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:64313000-64318000	Weak transcription	Fetal Brain Female	brain
30	chr12:64313000-64334400	Weak transcription	Psoas Muscle	Psoas
31	chr12:64313200-64315200	Weak transcription	Placenta	Placenta
32	chr12:64313200-64315800	Enhancers	Hela-S3	cervix
33	chr12:64313200-64316600	Weak transcription	Lung	lung
34	chr12:64313200-64321000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr12:64313200-64330600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr12:64313200-64331600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr12:64313200-64331600	Weak transcription	Left Ventricle	heart
38	chr12:64313200-64334400	Weak transcription	Pancreas	Pancrea
39	chr12:64313400-64314400	Flanking Active TSS	A549	lung
40	chr12:64313400-64318400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr12:64313400-64318800	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr12:64313600-64314200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr12:64313600-64314200	Enhancers	Brain Substantia Nigra	brain
44	chr12:64313800-64314600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:64313800-64314800	Weak transcription	HUVEC	blood vessel
46	chr12:64313800-64315000	Weak transcription	Small Intestine	intestine
47	chr12:64313800-64315200	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr12:64313800-64315200	Genic enhancers	NHEK	skin
49	chr12:64313800-64319200	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr12:64313800-64321000	Weak transcription	Rectal Mucosa Donor 29	rectum

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