Variant report

Variant	rs12094497
Chromosome Location	chr1:161186303-161186304
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:161186208-161187128	HL-60	blood:	n/a	n/a
2	POLR2A	chr1:161186287-161186896	HepG2	liver:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:161180679..161184131-chr1:161186023..161188339,4	MCF-7	breast:
2	chr1:161172161..161173838-chr1:161184406..161186813,2	MCF-7	breast:
3	chr1:161185902..161187747-chr1:161348758..161351326,2	K562	blood:
4	chr1:161184335..161187137-chr1:161197763..161199815,2	MCF-7	breast:
5	chr1:161185948..161188924-chr1:161331742..161333361,2	K562	blood:
6	chr1:161183575..161186410-chr1:161283060..161284793,2	K562	blood:
7	chr1:161167824..161171271-chr1:161185300..161189545,6	K562	blood:
8	chr1:161174340..161177261-chr1:161184177..161187109,2	K562	blood:
9	chr1:161175566..161178282-chr1:161184177..161186435,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000268387	TF binding region
ENSG00000143252	Chromatin interaction
ENSG00000158882	Chromatin interaction
ENSG00000236484	Chromatin interaction
ENSG00000158859	Chromatin interaction
ENSG00000158864	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11265565	0.81[MKK][hapmap];0.80[YRI][hapmap]
rs1128752	1.00[JPT][hapmap]
rs11576415	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12027719	1.00[JPT][hapmap]
rs12077004	1.00[JPT][hapmap];0.95[TSI][hapmap]
rs2301288	1.00[JPT][hapmap]
rs34448954	1.00[ASN][1000 genomes]
rs3557	1.00[CHB][hapmap];1.00[MEX][hapmap]

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	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv482136	chr1:161185087-161189038	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12094497	CRABP2	cis	parietal	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161172800-161186800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:161172800-161193600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:161181200-161186400	Weak transcription	Stomach Mucosa	stomach
4	chr1:161182400-161193800	Weak transcription	Small Intestine	intestine
5	chr1:161184000-161187000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr1:161184000-161187200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr1:161184200-161186400	Weak transcription	Fetal Lung	lung
8	chr1:161184200-161186400	Weak transcription	HSMMtube	muscle
9	chr1:161184200-161186600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr1:161184200-161190200	Weak transcription	Psoas Muscle	Psoas
11	chr1:161184400-161186400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr1:161184400-161186600	Weak transcription	Fetal Kidney	kidney
13	chr1:161184400-161186600	Weak transcription	Ovary	ovary
14	chr1:161184400-161186800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr1:161184400-161187000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr1:161184400-161188400	Weak transcription	Fetal Brain Male	brain
17	chr1:161184400-161195000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:161184400-161195000	Weak transcription	Colon Smooth Muscle	Colon
19	chr1:161184400-161195000	Weak transcription	NHEK	skin
20	chr1:161184600-161186400	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr1:161184600-161186400	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr1:161184600-161186400	Weak transcription	Brain Angular Gyrus	brain
23	chr1:161184600-161186600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr1:161184600-161186600	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr1:161184600-161187400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr1:161184600-161195000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr1:161184600-161195000	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr1:161184600-161195000	Weak transcription	Brain Substantia Nigra	brain
29	chr1:161184600-161195800	Weak transcription	Aorta	Aorta
30	chr1:161184600-161195800	Weak transcription	Esophagus	oesophagus
31	chr1:161184800-161186400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr1:161184800-161186800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
33	chr1:161184800-161187400	Active TSS	Monocytes-CD14+_RO01746	blood
34	chr1:161185000-161186400	Active TSS	Brain Hippocampus Middle	brain
35	chr1:161185000-161187000	Active TSS	Primary monocytes fromperipheralblood	blood
36	chr1:161185000-161194800	Weak transcription	Dnd41	blood
37	chr1:161185000-161195000	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr1:161185200-161186400	Active TSS	Brain Anterior Caudate	brain
39	chr1:161185200-161186400	Weak transcription	Brain Cingulate Gyrus	brain
40	chr1:161185200-161186400	Active TSS	Left Ventricle	heart
41	chr1:161185200-161186400	Enhancers	HepG2	liver
42	chr1:161185200-161186400	Weak transcription	HUVEC	blood vessel
43	chr1:161185200-161186400	Enhancers	Osteobl	bone
44	chr1:161185200-161186600	Weak transcription	Hela-S3	cervix
45	chr1:161185200-161186800	Weak transcription	Brain Germinal Matrix	brain
46	chr1:161185200-161186800	Active TSS	Lung	lung
47	chr1:161185200-161187000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
48	chr1:161185200-161187600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr1:161185200-161187600	Active TSS	Rectal Mucosa Donor 29	rectum
50	chr1:161185200-161187800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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