Variant report

Variant	rs12314663
Chromosome Location	chr12:49174671-49174672
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
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	MAX	chr12:49174263-49174773	MCF-7	breast:	n/a	chr12:49174630-49174639 chr12:49174629-49174640 chr12:49174629-49174639 chr12:49174485-49174495 chr12:49174629-49174640
2	FOXA1	chr12:49174459-49174694	T-47D	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:49174651-49174701	Caco-2	colon:	n/a
2	chr12:49174651-49174701	GM12878	blood:	n/a
3	chr12:49174651-49174701	ECC-1	luminal epithelium:	n/a
4	chr12:49174651-49174701	NB4	blood:	n/a
5	chr12:49174651-49174701	K562	blood:	n/a
6	chr12:49174651-49174701	PrEC	prostate:	n/a
7	chr12:49174651-49174701	SAEC	small airway:	n/a
8	chr12:49174651-49174701	HEK293	kidney:	embryo
9	chr12:49174651-49174701	PANC-1	pancreas:	n/a
10	chr12:49174651-49174701	GM06990	blood:	n/a
11	chr12:49174651-49174701	GM19239	blood:	n/a
12	chr12:49174651-49174701	HepG2	liver:	n/a
13	chr12:49174651-49174701	A549	lung:	n/a
14	chr12:49174651-49174701	GM12892	blood:	n/a
15	chr12:49174651-49174701	PFSK-1	brain:	n/a
16	chr12:49174651-49174701	IMR90	lung:	fetal
17	chr12:49174651-49174701	NHDF-neo	bronchial:	n/a
18	chr12:49174651-49174701	Jurkat	blood:	n/a
19	chr12:49174651-49174701	HEEpiC	esophagus:	n/a
20	chr12:49174651-49174701	RPTEC	kidney:	n/a
21	chr12:49174651-49174701	BE2_C	brain:	n/a
22	chr12:49174651-49174701	T-47D	breast:	n/a
23	chr12:49174651-49174701	AG09319	gingival:	n/a
24	chr12:49174651-49174701	GM12891	blood:	n/a
25	chr12:49174651-49174701	HRE	kidney:	n/a
26	chr12:49174651-49174701	U87	brain:	n/a
27	chr12:49174651-49174701	HRPEpiC	eye:	n/a
28	chr12:49174651-49174701	NHBE	bronchial:	n/a
29	chr12:49174651-49174701	ProgFib	skin:	n/a
30	chr12:49174651-49174701	Hepatocyte	liver:	n/a
31	chr12:49174651-49174701	AG04450	lung:	fetal
32	chr12:49174651-49174701	SKMC	muscle:	n/a
33	chr12:49174651-49174701	SK-N-SH	brain:	n/a
34	chr12:49174651-49174701	AG10803	skin:	n/a
35	chr12:49174651-49174701	HCM	heart:	n/a
36	chr12:49174651-49174701	BJ	skin:	n/a
37	chr12:49174651-49174701	SK-N-SH_RA	brain:	n/a
38	chr12:49174651-49174701	HMEC	breast:	n/a
39	chr12:49174651-49174701	HCT-116	colon:	n/a
40	chr12:49174651-49174701	HUVEC	blood vessel:	n/a
41	chr12:49174651-49174701	HNPCEpiC	eye:	n/a
42	chr12:49174651-49174701	AG04449	skin:	fetal
43	chr12:49174651-49174701	Hela-S3	cervix:	n/a
44	chr12:49174651-49174701	HPAEpiC	pulmonary alveolar:	n/a
45	chr12:49174651-49174701	LNCaP	prostate:	n/a
46	chr12:49174651-49174701	ovcar-3	ovarian:	n/a
47	chr12:49174651-49174701	SK-N-MC	brain:	n/a
48	chr12:49174651-49174701	H1-hESC	embryonic stem cell:	embryo
49	chr12:49174651-49174701	MCF10A-Er-Src	breast:	n/a
50	chr12:49174651-49174701	HAEpiC	amniotic membrane:	n/a

(count:5 , 50 per page) page: 1

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:
4	chr12:49167240..49169443-chr12:49174460..49176049,2	K562	blood:
5	chr12:49174311..49177281-chr12:49188936..49191839,3	MCF-7	breast:

No data

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

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10875874	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10875875	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168732	0.80[CEU][hapmap];1.00[CHB][hapmap]
rs11168733	1.00[CHB][hapmap]
rs11168734	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168736	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168737	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168738	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11168739	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168740	0.87[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11168742	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs12306165	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs12307769	1.00[CHB][hapmap]
rs12319012	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35468640	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35801460	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3729969	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs3729980	0.80[CEU][hapmap];1.00[CHB][hapmap]
rs3730069	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs3730070	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs3730072	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs3730074	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs68003719	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7132180	1.00[CHB][hapmap]
rs7300155	0.87[CEU][hapmap];1.00[CHB][hapmap]
rs7307701	0.86[ASN][1000 genomes]
rs9668292	0.87[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9804777	1.00[CHB][hapmap]

No data

Chromatin state (count:98 , 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	chr12:49168400-49181400	Weak transcription	Fetal Kidney	kidney
8	chr12:49169000-49175000	Weak transcription	HMEC	breast
9	chr12:49169600-49176000	Weak transcription	Fetal Lung	lung
10	chr12:49169800-49180000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr12:49169800-49180400	Weak transcription	HepG2	liver
12	chr12:49169800-49181200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:49170000-49175000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr12:49170000-49180800	Weak transcription	Brain Anterior Caudate	brain
15	chr12:49171200-49176600	Weak transcription	A549	lung
16	chr12:49171200-49180800	Weak transcription	Brain Angular Gyrus	brain
17	chr12:49171600-49176000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr12:49171600-49180400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:49171800-49175400	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr12:49172000-49175200	Weak transcription	Liver	Liver
21	chr12:49172200-49175000	Weak transcription	Pancreas	Pancrea
22	chr12:49172200-49175800	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr12:49172200-49175800	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr12:49172200-49175800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr12:49172200-49181600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr12:49172400-49180800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr12:49172400-49181200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr12:49172800-49175800	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr12:49173000-49175400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:49173000-49175400	Enhancers	Right Ventricle	heart
31	chr12:49173000-49175400	Enhancers	NHDF-Ad	bronchial
32	chr12:49173000-49175800	Enhancers	NH-A	brain
33	chr12:49173000-49177600	Enhancers	Right Atrium	heart
34	chr12:49173200-49174800	Enhancers	HUVEC	blood vessel
35	chr12:49173200-49175000	Enhancers	Stomach Smooth Muscle	stomach
36	chr12:49173200-49175200	Enhancers	Brain Hippocampus Middle	brain
37	chr12:49173200-49175400	Enhancers	Primary hematopoietic stem cells	blood
38	chr12:49173200-49175400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr12:49173200-49175400	Enhancers	Placenta	Placenta
40	chr12:49173200-49175400	Genic enhancers	Fetal Stomach	stomach
41	chr12:49173200-49175600	Enhancers	Adipose Nuclei	Adipose
42	chr12:49173200-49175600	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr12:49173200-49175800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr12:49173200-49176000	Enhancers	Aorta	Aorta
45	chr12:49173200-49176200	Enhancers	Esophagus	oesophagus
46	chr12:49173200-49176200	Enhancers	Left Ventricle	heart
47	chr12:49173200-49176200	Enhancers	Ovary	ovary
48	chr12:49173200-49176200	Enhancers	Placenta Amnion	Placenta Amnion
49	chr12:49173200-49176400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr12:49173200-49176400	Genic enhancers	Fetal Muscle Trunk	muscle

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