Variant report

Variant	rs35468640
Chromosome Location	chr12:49174256-49174257
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MEF2A	chr12:49173563-49174277	SK-N-SH	brain:	n/a	chr12:49173828-49173849 chr12:49173832-49173847 chr12:49173828-49173849 chr12:49173833-49173848 chr12:49173833-49173847
2	MAZ	chr12:49173517-49174548	IMR90	lung:	n/a	chr12:49174485-49174495
3	POLR2A	chr12:49174194-49174420	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:49169535..49172112-chr12:49173646..49176483,2	K562	blood:
2	chr12:49166809..49169452-chr12:49170744..49174705,3	MCF-7	breast:
3	chr12:49074430..49078671-chr12:49171491..49175460,5	MCF-7	breast:

Variant related genes	Relation type
ADCY6	TF binding region
ENSG00000139620	Chromatin interaction
ENSG00000174233	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10875874	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10875875	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168734	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168736	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168737	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168738	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11168739	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168740	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168742	0.86[ASN][1000 genomes]
rs12306165	0.86[ASN][1000 genomes]
rs12314663	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12319012	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35801460	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3730069	1.00[ASN][1000 genomes]
rs3730070	1.00[ASN][1000 genomes]
rs3730072	1.00[ASN][1000 genomes]
rs3730074	1.00[ASN][1000 genomes]
rs68003719	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7307701	0.86[ASN][1000 genomes]
rs9668292	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49158400-49177800	Strong transcription	Cortex derived primary cultured neurospheres	brain
2	chr12:49159400-49181000	Weak transcription	Small Intestine	intestine
3	chr12:49160600-49177400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:49160600-49180600	Weak transcription	Fetal Brain Male	brain
5	chr12:49163000-49180400	Weak transcription	Psoas Muscle	Psoas
6	chr12:49163000-49180600	Weak transcription	Hela-S3	cervix
7	chr12:49166400-49174400	Weak transcription	NHEK	skin
8	chr12:49168200-49174400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:49168400-49181400	Weak transcription	Fetal Kidney	kidney
10	chr12:49169000-49175000	Weak transcription	HMEC	breast
11	chr12:49169600-49176000	Weak transcription	Fetal Lung	lung
12	chr12:49169800-49180000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr12:49169800-49180400	Weak transcription	HepG2	liver
14	chr12:49169800-49181200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:49170000-49175000	Weak transcription	Brain Cingulate Gyrus	brain
16	chr12:49170000-49180800	Weak transcription	Brain Anterior Caudate	brain
17	chr12:49171200-49176600	Weak transcription	A549	lung
18	chr12:49171200-49180800	Weak transcription	Brain Angular Gyrus	brain
19	chr12:49171600-49176000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr12:49171600-49180400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:49171800-49175400	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr12:49172000-49174400	Weak transcription	Fetal Brain Female	brain
23	chr12:49172000-49175200	Weak transcription	Liver	Liver
24	chr12:49172200-49175000	Weak transcription	Pancreas	Pancrea
25	chr12:49172200-49175800	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr12:49172200-49175800	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr12:49172200-49175800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr12:49172200-49181600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr12:49172400-49180800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr12:49172400-49181200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr12:49172800-49175800	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr12:49173000-49174600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr12:49173000-49174600	Flanking Active TSS	Fetal Heart	heart
34	chr12:49173000-49175400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:49173000-49175400	Enhancers	Right Ventricle	heart
36	chr12:49173000-49175400	Enhancers	NHDF-Ad	bronchial
37	chr12:49173000-49175800	Enhancers	NH-A	brain
38	chr12:49173000-49177600	Enhancers	Right Atrium	heart
39	chr12:49173200-49174600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr12:49173200-49174600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr12:49173200-49174800	Enhancers	HUVEC	blood vessel
42	chr12:49173200-49175000	Enhancers	Stomach Smooth Muscle	stomach
43	chr12:49173200-49175200	Enhancers	Brain Hippocampus Middle	brain
44	chr12:49173200-49175400	Enhancers	Primary hematopoietic stem cells	blood
45	chr12:49173200-49175400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr12:49173200-49175400	Enhancers	Placenta	Placenta
47	chr12:49173200-49175400	Genic enhancers	Fetal Stomach	stomach
48	chr12:49173200-49175600	Enhancers	Adipose Nuclei	Adipose
49	chr12:49173200-49175600	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr12:49173200-49175800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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