Variant report

Variant	rs12714
Chromosome Location	chr5:118877677-118877678
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	chr5:118868196..118870095-chr5:118875556..118878228,2	K562	blood:
2	chr5:118872062..118875418-chr5:118875456..118880778,4	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs11948865	1.00[EUR][1000 genomes]
rs11949545	1.00[EUR][1000 genomes]
rs11951660	1.00[EUR][1000 genomes]
rs11952687	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11955089	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11956487	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11957255	0.86[AFR][1000 genomes]
rs11959643	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11959779	1.00[EUR][1000 genomes]
rs1428437	1.00[EUR][1000 genomes]
rs17145471	0.86[AFR][1000 genomes]
rs2560723	1.00[EUR][1000 genomes]
rs28943594	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs35182344	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs35764784	1.00[EUR][1000 genomes]
rs3843986	1.00[EUR][1000 genomes]
rs3850203	1.00[EUR][1000 genomes]
rs3850204	1.00[EUR][1000 genomes]
rs4099736	1.00[EUR][1000 genomes]
rs57270573	1.00[EUR][1000 genomes]
rs57592998	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57990091	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58527989	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59177585	1.00[EUR][1000 genomes]
rs59940947	1.00[EUR][1000 genomes]
rs60069733	1.00[EUR][1000 genomes]
rs60684792	1.00[EUR][1000 genomes]
rs60871537	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61093477	0.82[AFR][1000 genomes]
rs61460721	1.00[EUR][1000 genomes]
rs61645108	1.00[EUR][1000 genomes]
rs6868057	1.00[EUR][1000 genomes]
rs73236713	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73236767	1.00[EUR][1000 genomes]
rs73236771	1.00[EUR][1000 genomes]
rs73238798	1.00[EUR][1000 genomes]
rs73240903	1.00[EUR][1000 genomes]
rs73241213	1.00[EUR][1000 genomes]
rs73241292	1.00[EUR][1000 genomes]
rs73243205	1.00[EUR][1000 genomes]
rs73246514	1.00[EUR][1000 genomes]
rs73246536	1.00[EUR][1000 genomes]
rs73249960	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73249990	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73250002	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73251677	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73256182	1.00[EUR][1000 genomes]
rs7708761	1.00[EUR][1000 genomes]
rs7711431	1.00[EUR][1000 genomes]
rs7711926	1.00[EUR][1000 genomes]
rs7723718	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427732	chr5:118730999-119034741	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1024455	chr5:118770429-119487982	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1016271	chr5:118836891-119487982	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv882776	chr5:118859546-118915408	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv882777	chr5:118870452-118981480	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118804200-118879600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr5:118832400-118878200	Weak transcription	NH-A	brain
3	chr5:118840200-118878400	Weak transcription	Psoas Muscle	Psoas
4	chr5:118841000-118880000	Weak transcription	Brain Germinal Matrix	brain
5	chr5:118841200-118880000	Weak transcription	A549	lung
6	chr5:118846800-118878200	Weak transcription	NHLF	lung
7	chr5:118847200-118877800	Weak transcription	Small Intestine	intestine
8	chr5:118847200-118878200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr5:118847200-118879800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr5:118847400-118878200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr5:118847400-118879800	Weak transcription	HSMMtube	muscle
12	chr5:118847600-118878200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr5:118847600-118879800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr5:118852800-118878200	Weak transcription	Aorta	Aorta
15	chr5:118853000-118880200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr5:118853400-118878200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr5:118853400-118878200	Weak transcription	Esophagus	oesophagus
18	chr5:118853400-118878200	Weak transcription	Gastric	stomach
19	chr5:118854400-118878400	Weak transcription	Spleen	Spleen
20	chr5:118854400-118879600	Weak transcription	Fetal Kidney	kidney
21	chr5:118854400-118880600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr5:118854800-118878200	Weak transcription	Thymus	Thymus
23	chr5:118855600-118878200	Weak transcription	Fetal Stomach	stomach
24	chr5:118856200-118878400	Weak transcription	Right Ventricle	heart
25	chr5:118857200-118878200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr5:118860600-118879200	Strong transcription	Liver	Liver
27	chr5:118861400-118879800	Weak transcription	HepG2	liver
28	chr5:118861600-118878600	Weak transcription	Hela-S3	cervix
29	chr5:118862000-118879800	Weak transcription	HSMM	muscle
30	chr5:118862000-118880200	Weak transcription	Fetal Lung	lung
31	chr5:118863600-118879200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr5:118864000-118878200	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr5:118864000-118878200	Weak transcription	Osteobl	bone
34	chr5:118864200-118879800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr5:118864200-118880200	Weak transcription	Colon Smooth Muscle	Colon
36	chr5:118864400-118880200	Weak transcription	Fetal Brain Female	brain
37	chr5:118865800-118879400	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr5:118866000-118883200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr5:118866400-118879800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr5:118866400-118880000	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr5:118867000-118878400	Weak transcription	NHDF-Ad	bronchial
42	chr5:118869400-118880000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr5:118869600-118880000	Weak transcription	K562	blood
44	chr5:118870400-118878600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr5:118870800-118878600	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr5:118871400-118878600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr5:118871800-118878400	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr5:118871800-118878600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr5:118871800-118878600	Strong transcription	Primary B cells from peripheral blood	blood
50	chr5:118871800-118878800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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