Variant report

Variant	rs17841967
Chromosome Location	chr12:120527599-120527600
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	NR3C1	chr12:120527532-120527842	A549	lung:	n/a	chr12:120527744-120527751
2	POLR2A	chr12:120527584-120527624	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr12:120527520-120530522	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:120523806..120527797-chr12:120636547..120640278,4	K562	blood:

Variant related genes	Relation type
CCDC64	TF binding region
ENSG00000255857	Chromatin interaction
ENSG00000089157	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10128766	0.87[ASN][1000 genomes]
rs10400498	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10400560	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10849731	0.87[ASN][1000 genomes]
rs10849732	0.87[ASN][1000 genomes]
rs10849735	0.88[ASN][1000 genomes]
rs10849736	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11064987	0.86[ASN][1000 genomes]
rs11064988	0.86[ASN][1000 genomes]
rs11064996	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11065003	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11833221	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12310269	0.88[ASN][1000 genomes]
rs12310591	0.93[ASN][1000 genomes]
rs12313413	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12318774	0.87[ASN][1000 genomes]
rs12320793	0.86[ASN][1000 genomes]
rs12322236	0.87[ASN][1000 genomes]
rs12422923	0.93[ASN][1000 genomes]
rs16949901	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16949946	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16949961	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2239200	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2239201	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2239202	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2239203	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2239204	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2283359	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2283360	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2283361	0.81[ASN][1000 genomes]
rs2286040	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28726166	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4767869	0.87[ASN][1000 genomes]
rs4767871	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4767872	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4767875	0.93[ASN][1000 genomes]
rs4767876	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58272825	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59168361	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60466490	0.93[ASN][1000 genomes]
rs7298183	0.87[ASN][1000 genomes]
rs7298727	0.87[ASN][1000 genomes]
rs7300023	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7312971	0.93[ASN][1000 genomes]
rs7397339	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7958402	0.87[ASN][1000 genomes]
rs7958497	0.85[ASN][1000 genomes]
rs7965829	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7968557	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7978927	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3525916	chr12:120345352-120665045	Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	esv3525917	chr12:120345352-120665045	Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
3	nsv899555	chr12:120519124-120840522	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	499 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120518200-120528600	Weak transcription	Gastric	stomach
2	chr12:120524800-120531000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:120525000-120530400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:120525400-120527600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:120525400-120527800	Weak transcription	Spleen	Spleen
6	chr12:120525400-120528200	Weak transcription	Psoas Muscle	Psoas
7	chr12:120525400-120528400	Weak transcription	Esophagus	oesophagus
8	chr12:120525400-120528800	Weak transcription	Lung	lung
9	chr12:120525400-120529600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:120525400-120529800	Weak transcription	Fetal Intestine Large	intestine
11	chr12:120525400-120530200	Weak transcription	Left Ventricle	heart
12	chr12:120525400-120534200	Weak transcription	Right Atrium	heart
13	chr12:120525600-120527600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr12:120525600-120527600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr12:120525600-120527600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr12:120525600-120527600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr12:120525600-120527600	Weak transcription	Fetal Brain Female	brain
18	chr12:120525600-120527600	Weak transcription	Fetal Muscle Trunk	muscle
19	chr12:120525600-120527600	Weak transcription	Placenta	Placenta
20	chr12:120525600-120528000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr12:120525600-120528000	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr12:120525600-120528000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr12:120525600-120528200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr12:120525600-120528600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr12:120525600-120528600	Weak transcription	Pancreas	Pancrea
26	chr12:120525600-120529000	Weak transcription	Stomach Smooth Muscle	stomach
27	chr12:120525600-120529200	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr12:120525600-120529200	Weak transcription	Fetal Intestine Small	intestine
29	chr12:120525600-120529400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr12:120525600-120529400	Weak transcription	Fetal Stomach	stomach
31	chr12:120525600-120529400	Weak transcription	HSMM	muscle
32	chr12:120525600-120529400	Weak transcription	NHLF	lung
33	chr12:120525600-120529600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr12:120525600-120529600	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr12:120525600-120529800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr12:120525600-120529800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr12:120525600-120530000	Weak transcription	Adipose Nuclei	Adipose
38	chr12:120525600-120530000	Weak transcription	Brain Substantia Nigra	brain
39	chr12:120525600-120530200	Weak transcription	Colonic Mucosa	Colon
40	chr12:120525600-120530200	Weak transcription	Right Ventricle	heart
41	chr12:120525600-120530400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:120525600-120530400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr12:120525600-120530400	Weak transcription	Brain Hippocampus Middle	brain
44	chr12:120525600-120531200	Weak transcription	Fetal Lung	lung
45	chr12:120525600-120531400	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr12:120525600-120531600	Weak transcription	Aorta	Aorta
47	chr12:120525600-120531600	Weak transcription	Brain Angular Gyrus	brain
48	chr12:120525600-120531600	Weak transcription	K562	blood
49	chr12:120525600-120532200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr12:120525600-120532200	Weak transcription	Colon Smooth Muscle	Colon

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