Variant report

Variant	rs12306165
Chromosome Location	chr12:49173152-49173153
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	RCOR1	chr12:49172708-49173382	IMR90	lung:	n/a	n/a
2	ZNF143	chr12:49173027-49173152	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:49166809..49169452-chr12:49170744..49174705,3	MCF-7	breast:
2	chr12:49074430..49078671-chr12:49171491..49175460,5	MCF-7	breast:
3	chr12:49172352..49174220-chr12:49181299..49183952,2	K562	blood:

Variant related genes	Relation type
ADCY6	TF binding region
ENSG00000174233	Chromatin interaction
ENSG00000257660	Chromatin interaction
ENSG00000139620	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10875874	0.86[ASN][1000 genomes]
rs10875875	0.86[ASN][1000 genomes]
rs11168732	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs11168733	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11168734	0.86[ASN][1000 genomes]
rs11168736	0.86[ASN][1000 genomes]
rs11168737	0.86[ASN][1000 genomes]
rs11168739	0.86[ASN][1000 genomes]
rs11168740	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[ASN][1000 genomes]
rs11168742	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[ASN][1000 genomes]
rs12303625	0.80[CEU][hapmap]
rs12307769	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.83[TSI][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12314663	0.86[ASN][1000 genomes]
rs12317021	0.80[CEU][hapmap]
rs12319012	0.86[ASN][1000 genomes]
rs28433152	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28454807	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28889716	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs34863395	0.92[AFR][1000 genomes]
rs35468640	0.86[ASN][1000 genomes]
rs35801460	0.86[ASN][1000 genomes]
rs3729969	1.00[CHB][hapmap]
rs3729980	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs3730069	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs3730070	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs3730072	1.00[CHB][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs3730074	1.00[CHB][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs68003719	0.86[ASN][1000 genomes]
rs7132180	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.83[TSI][hapmap];0.97[EUR][1000 genomes]
rs7300155	1.00[CHB][hapmap]
rs7307701	1.00[ASN][1000 genomes]
rs7961282	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7975385	1.00[CHD][hapmap]
rs9668292	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[ASN][1000 genomes]
rs9804777	1.00[CHB][hapmap];1.00[CHD][hapmap];0.80[LWK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes]

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49158400-49173200	Strong transcription	Fetal Muscle Leg	muscle
2	chr12:49158400-49173200	Strong transcription	Fetal Stomach	stomach
3	chr12:49158400-49173400	Strong transcription	Fetal Intestine Small	intestine
4	chr12:49158400-49173600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:49158400-49177800	Strong transcription	Cortex derived primary cultured neurospheres	brain
6	chr12:49159400-49181000	Weak transcription	Small Intestine	intestine
7	chr12:49159600-49174000	Strong transcription	Duodenum Mucosa	Duodenum
8	chr12:49160600-49177400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:49160600-49180600	Weak transcription	Fetal Brain Male	brain
10	chr12:49161600-49173200	Strong transcription	Fetal Muscle Trunk	muscle
11	chr12:49161800-49173200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr12:49163000-49180400	Weak transcription	Psoas Muscle	Psoas
13	chr12:49163000-49180600	Weak transcription	Hela-S3	cervix
14	chr12:49164400-49173200	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr12:49166200-49173200	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr12:49166400-49174400	Weak transcription	NHEK	skin
17	chr12:49167400-49173200	Weak transcription	HUVEC	blood vessel
18	chr12:49167600-49173200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr12:49168200-49174400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr12:49168400-49181400	Weak transcription	Fetal Kidney	kidney
21	chr12:49168600-49173600	Weak transcription	Colon Smooth Muscle	Colon
22	chr12:49168800-49173800	Weak transcription	HSMM	muscle
23	chr12:49169000-49175000	Weak transcription	HMEC	breast
24	chr12:49169600-49176000	Weak transcription	Fetal Lung	lung
25	chr12:49169800-49180000	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr12:49169800-49180400	Weak transcription	HepG2	liver
27	chr12:49169800-49181200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr12:49170000-49173600	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr12:49170000-49174200	Weak transcription	Brain Substantia Nigra	brain
30	chr12:49170000-49175000	Weak transcription	Brain Cingulate Gyrus	brain
31	chr12:49170000-49180800	Weak transcription	Brain Anterior Caudate	brain
32	chr12:49171000-49173200	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr12:49171200-49173600	Weak transcription	Rectal Smooth Muscle	rectum
34	chr12:49171200-49176600	Weak transcription	A549	lung
35	chr12:49171200-49180800	Weak transcription	Brain Angular Gyrus	brain
36	chr12:49171400-49173200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr12:49171400-49173600	Weak transcription	HSMMtube	muscle
38	chr12:49171400-49174000	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr12:49171600-49173200	Weak transcription	Stomach Smooth Muscle	stomach
40	chr12:49171600-49173600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr12:49171600-49174200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr12:49171600-49176000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr12:49171600-49180400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:49171800-49173200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr12:49171800-49173200	Weak transcription	Stomach Mucosa	stomach
46	chr12:49171800-49175400	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr12:49172000-49173200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr12:49172000-49173200	Weak transcription	Adipose Nuclei	Adipose
49	chr12:49172000-49173200	Weak transcription	Esophagus	oesophagus
50	chr12:49172000-49173200	Weak transcription	Placenta	Placenta

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