Variant report

Variant	rs11878114
Chromosome Location	chr18:44436518-44436519
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	chr18:44431304..44434068-chr18:44434651..44437346,2	K562	blood:

Variant related genes	Relation type
ENSG00000267587	Chromatin interaction

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs11872317	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11872376	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11872476	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11873793	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11874218	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11874267	1.00[CHB][hapmap]
rs11874300	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11874423	1.00[CHB][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs11874582	1.00[CHB][hapmap]
rs11874634	1.00[CHB][hapmap]
rs11875032	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11875527	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11875655	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11875703	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs11875918	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11876274	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs11876752	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11877373	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs11877429	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11877540	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11877721	1.00[CHB][hapmap];1.00[YRI][hapmap]
rs11878135	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16949623	1.00[CHB][hapmap];0.91[TSI][hapmap]
rs36129965	1.00[ASN][1000 genomes]
rs3893054	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs55752024	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55890037	1.00[ASN][1000 genomes]
rs56030315	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56055727	1.00[ASN][1000 genomes]
rs56068993	1.00[ASN][1000 genomes]
rs56095591	0.94[AFR][1000 genomes]
rs56188847	0.94[AFR][1000 genomes]
rs56202233	1.00[ASN][1000 genomes]
rs56333835	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56388142	1.00[ASN][1000 genomes]
rs56400973	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56414010	0.83[AFR][1000 genomes]
rs7229231	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7236403	1.00[CHB][hapmap]
rs7238877	1.00[CHB][hapmap]
rs7240843	1.00[CHB][hapmap]
rs7240909	1.00[CHB][hapmap]
rs7241858	1.00[CHB][hapmap]
rs7243309	1.00[CHB][hapmap]
rs72903209	1.00[ASN][1000 genomes]
rs72903212	1.00[ASN][1000 genomes]
rs72903231	1.00[ASN][1000 genomes]
rs72903232	1.00[ASN][1000 genomes]
rs72903376	1.00[ASN][1000 genomes]
rs72903390	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903401	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905209	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905249	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905251	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905265	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905274	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905289	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905292	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907114	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907118	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907130	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907134	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907143	0.94[AFR][1000 genomes]
rs72907154	1.00[ASN][1000 genomes]
rs72907155	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907164	0.94[AFR][1000 genomes]
rs72907177	0.94[AFR][1000 genomes]
rs72907196	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909171	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909189	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909195	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909201	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72911111	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72911118	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913063	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72915084	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72917125	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72917151	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72919213	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72919298	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72921352	1.00[ASN][1000 genomes]
rs72921363	1.00[ASN][1000 genomes]
rs72921366	1.00[ASN][1000 genomes]
rs8088346	1.00[ASW][hapmap];1.00[CHB][hapmap]
rs8092148	1.00[CHB][hapmap]
rs8094449	1.00[CHB][hapmap]

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	nsv9629	chr18:44264693-44757511	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv2763189	chr18:44415779-44515384	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv833639	chr18:44426363-44552719	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv999328	chr18:44431002-44438662	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1059378	chr18:44431832-44509052	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44382200-44437000	Weak transcription	Right Ventricle	heart
2	chr18:44391800-44448400	Weak transcription	Pancreas	Pancrea
3	chr18:44392600-44447800	Weak transcription	Esophagus	oesophagus
4	chr18:44394800-44437800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr18:44397000-44441200	Weak transcription	Hela-S3	cervix
6	chr18:44399200-44457000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr18:44399600-44437600	Weak transcription	Small Intestine	intestine
8	chr18:44400000-44448200	Weak transcription	Spleen	Spleen
9	chr18:44401400-44436600	Weak transcription	Psoas Muscle	Psoas
10	chr18:44401400-44437600	Weak transcription	HMEC	breast
11	chr18:44402000-44440800	Weak transcription	A549	lung
12	chr18:44404000-44448000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr18:44405400-44443400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr18:44406000-44447200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr18:44407400-44447800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr18:44407600-44453200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr18:44408000-44438000	Weak transcription	Colon Smooth Muscle	Colon
18	chr18:44408200-44436800	Weak transcription	Brain Germinal Matrix	brain
19	chr18:44408600-44436800	Weak transcription	NHLF	lung
20	chr18:44408600-44448200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr18:44408800-44448200	Weak transcription	Lung	lung
22	chr18:44409400-44437200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr18:44409400-44447400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr18:44410000-44437200	Weak transcription	Fetal Heart	heart
25	chr18:44414000-44448400	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr18:44415400-44437600	Weak transcription	HUVEC	blood vessel
27	chr18:44415600-44448000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr18:44420200-44445600	Weak transcription	K562	blood
29	chr18:44422800-44437600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr18:44423000-44437600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr18:44423400-44446400	Weak transcription	HSMM	muscle
32	chr18:44424000-44436600	Weak transcription	GM12878-XiMat	blood
33	chr18:44424800-44439600	Weak transcription	NHEK	skin
34	chr18:44425000-44446000	Weak transcription	Rectal Smooth Muscle	rectum
35	chr18:44425400-44436600	Weak transcription	HSMMtube	muscle
36	chr18:44425600-44436600	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr18:44430400-44437400	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr18:44431200-44437200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr18:44431600-44439400	Strong transcription	Dnd41	blood
40	chr18:44432000-44437200	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr18:44432200-44448400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr18:44432600-44443400	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr18:44432800-44436600	Weak transcription	Brain Angular Gyrus	brain
44	chr18:44432800-44437400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr18:44433000-44436600	Weak transcription	Brain Cingulate Gyrus	brain
46	chr18:44433000-44448600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr18:44433800-44437000	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr18:44433800-44439000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr18:44433800-44446400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr18:44434000-44437400	Strong transcription	Primary B cells from peripheral blood	blood

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