Variant report

Variant	rs11174515
Chromosome Location	chr12:62895969-62895970
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:62889593..62891337-chr12:62894794..62897430,2	K562	blood:
2	chr12:62887087..62888673-chr12:62894503..62897008,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11174491	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174502	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11174503	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174531	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174549	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11174554	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11174558	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11174560	0.83[EUR][1000 genomes]
rs11174561	0.83[EUR][1000 genomes]
rs11174566	0.83[EUR][1000 genomes]
rs11559995	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12161814	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12228446	0.89[ASN][1000 genomes]
rs4405369	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7302781	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74095806	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74095822	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530690	chr12:62678463-62999462	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv899158	chr12:62783967-62937259	Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv899159	chr12:62783967-62945245	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv821671	chr12:62794304-63007964	Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv469418	chr12:62893199-62959137	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
6	nsv559156	chr12:62893199-62959137	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62861800-62902200	Weak transcription	Fetal Kidney	kidney
2	chr12:62863200-62896800	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr12:62863200-62901800	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr12:62863200-62937400	Weak transcription	Pancreas	Pancrea
5	chr12:62863400-62902000	Weak transcription	HUVEC	blood vessel
6	chr12:62863400-62911000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr12:62863600-62926400	Weak transcription	Colon Smooth Muscle	Colon
8	chr12:62864000-62899200	Weak transcription	Brain Germinal Matrix	brain
9	chr12:62864000-62901600	Weak transcription	Lung	lung
10	chr12:62864000-62901600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr12:62864000-62906200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:62866200-62897000	Weak transcription	K562	blood
13	chr12:62866200-62899200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr12:62866200-62906200	Weak transcription	Aorta	Aorta
15	chr12:62866600-62896000	Weak transcription	Fetal Brain Female	brain
16	chr12:62866600-62906200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr12:62866600-62912400	Weak transcription	NHLF	lung
18	chr12:62866600-62953200	Weak transcription	Psoas Muscle	Psoas
19	chr12:62867200-62898600	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr12:62869000-62904400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr12:62871000-62910800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr12:62871800-62897200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr12:62871800-62926200	Weak transcription	Fetal Brain Male	brain
24	chr12:62872600-62901600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr12:62874600-62898800	Weak transcription	Fetal Muscle Trunk	muscle
26	chr12:62874600-62917400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr12:62874800-62896000	Weak transcription	HMEC	breast
28	chr12:62875600-62901200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr12:62876000-62902000	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr12:62876000-62905800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr12:62876000-62937400	Weak transcription	Gastric	stomach
32	chr12:62876200-62913000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr12:62876400-62902000	Weak transcription	Brain Anterior Caudate	brain
34	chr12:62876800-62897000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr12:62877400-62899200	Weak transcription	Ovary	ovary
36	chr12:62877800-62896800	Weak transcription	Brain Hippocampus Middle	brain
37	chr12:62877800-62906200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr12:62878600-62897000	Weak transcription	NHEK	skin
39	chr12:62879000-62912000	Weak transcription	Brain Angular Gyrus	brain
40	chr12:62879600-62896400	Weak transcription	Primary T cells from cord blood	blood
41	chr12:62879800-62901800	Weak transcription	HepG2	liver
42	chr12:62881000-62896600	Weak transcription	NHDF-Ad	bronchial
43	chr12:62883600-62899000	Weak transcription	Stomach Mucosa	stomach
44	chr12:62886000-62902000	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr12:62886000-62911200	Weak transcription	Brain Substantia Nigra	brain
46	chr12:62887000-62897200	Weak transcription	Hela-S3	cervix
47	chr12:62887200-62901200	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr12:62887400-62896000	Weak transcription	Fetal Heart	heart
49	chr12:62888400-62901200	Weak transcription	Colonic Mucosa	Colon
50	chr12:62888400-62904400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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