Variant report

Variant	rs4931047
Chromosome Location	chr12:32989235-32989236
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	chr12:32988171..32990454-chr12:32990868..32992937,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10772008	0.82[CHD][hapmap]
rs11052273	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1114701	0.82[CHD][hapmap]
rs6488096	0.81[ASN][1000 genomes]
rs6488097	0.90[CHB][hapmap];0.95[CHD][hapmap];0.89[ASN][1000 genomes]
rs7138369	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530421	chr12:32825335-33465991	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1054440	chr12:32872999-33150460	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv532334	chr12:32884789-33034791	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv531961	chr12:32966192-32997952	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4931047	BICD1	cis	parietal	SCAN
rs4931047	CAPRIN2	cis	cerebellum	SCAN

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32941800-33033400	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr12:32943800-33026800	Weak transcription	Fetal Kidney	kidney
3	chr12:32944200-32989400	Weak transcription	Hela-S3	cervix
4	chr12:32949200-33007800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr12:32961000-32989800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:32965000-32996200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr12:32972000-33029000	Weak transcription	Primary hematopoietic stem cells	blood
8	chr12:32973000-32989600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr12:32974200-33030400	Weak transcription	Right Ventricle	heart
10	chr12:32974400-32992600	Weak transcription	Pancreas	Pancrea
11	chr12:32974600-32991000	Weak transcription	Fetal Stomach	stomach
12	chr12:32974600-33004400	Weak transcription	Ovary	ovary
13	chr12:32975800-33020000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:32977400-32989600	Weak transcription	HMEC	breast
15	chr12:32977600-32991000	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr12:32982000-32992200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr12:32982800-32990800	Weak transcription	Fetal Intestine Small	intestine
18	chr12:32983400-32991800	Weak transcription	Fetal Intestine Large	intestine
19	chr12:32983600-32990400	Weak transcription	Placenta	Placenta
20	chr12:32983600-32991400	Weak transcription	HepG2	liver
21	chr12:32984200-32991800	Weak transcription	Stomach Mucosa	stomach
22	chr12:32985400-32992400	Weak transcription	Gastric	stomach
23	chr12:32986600-32995200	Strong transcription	Rectal Mucosa Donor 31	rectum
24	chr12:32987000-32994000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr12:32987200-32995200	Strong transcription	Duodenum Mucosa	Duodenum
26	chr12:32987400-32992000	Weak transcription	Colonic Mucosa	Colon
27	chr12:32987400-32996600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr12:32987600-32991000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr12:32987600-32992400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr12:32987600-32996200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr12:32987800-32996400	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr12:32988000-32989400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr12:32988200-32989600	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr12:32988400-32989800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr12:32988400-32994200	Strong transcription	Sigmoid Colon	Sigmoid Colon
36	chr12:32988600-32990200	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr12:32988600-32990200	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr12:32988600-32995000	Strong transcription	Liver	Liver
39	chr12:32988800-32989400	Enhancers	H1 Cell Line	embryonic stem cell
40	chr12:32988800-32989400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr12:32988800-32989400	Enhancers	H9 Cell Line	embryonic stem cell
42	chr12:32988800-32990400	Enhancers	Placenta Amnion	Placenta Amnion
43	chr12:32988800-32994800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr12:32989000-32989400	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr12:32989000-32989400	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr12:32989000-32989600	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr12:32989000-32998200	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr12:32989200-32989400	Enhancers	Left Ventricle	heart
49	chr12:32989200-32989800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr12:32989200-32990400	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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