Variant report

Variant	rs4754344
Chromosome Location	chr11:108552411-108552412
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:107992037..107994378-chr11:108551276..108554027,2	K562	blood:

Variant related genes	Relation type
ENSG00000255467	Chromatin interaction
ENSG00000075239	Chromatin interaction

Extended variants
information (count: 135 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:130)

rs_ID	r²[population]
rs10890878	0.90[EUR][1000 genomes]
rs10890881	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10890882	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10890884	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11212749	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11212751	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11212753	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11212754	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11212755	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11212757	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11212759	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11212760	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11212763	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11212765	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11212766	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11212767	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11212768	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11212769	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11212770	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11602510	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11602706	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11603815	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11605243	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11606434	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11607423	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12222436	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12222783	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12225174	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1381824	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1947926	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1947927	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1975910	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1975911	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2059540	0.84[ASN][1000 genomes]
rs2126567	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2128244	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2128246	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2169563	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2290950	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2306117	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2466928	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2466930	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs2466935	0.80[EUR][1000 genomes]
rs2466940	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2514010	0.84[EUR][1000 genomes]
rs2553767	0.85[ASN][1000 genomes]
rs2615716	0.84[EUR][1000 genomes]
rs2615717	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs2615718	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs2615728	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs2615729	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs2615731	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs2615732	1.00[CEU][hapmap];0.89[CHB][hapmap];0.82[EUR][1000 genomes]
rs2615733	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2615736	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2615737	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2615739	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2615740	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2615741	0.90[CEU][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2615752	0.91[CEU][hapmap]
rs2615755	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs2615757	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2615760	0.83[CEU][hapmap];0.83[EUR][1000 genomes]
rs2615761	0.84[EUR][1000 genomes]
rs2624128	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2624138	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2624139	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2624149	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2726869	0.82[EUR][1000 genomes]
rs2726871	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs2726875	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs2726882	0.82[EUR][1000 genomes]
rs2726883	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs2726888	0.83[CEU][hapmap];0.80[EUR][1000 genomes]
rs2726889	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2726892	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2726899	0.84[ASN][1000 genomes]
rs2726903	0.84[ASN][1000 genomes]
rs2726922	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2726923	0.94[CHB][hapmap];0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs35098485	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3758909	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3781865	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3824985	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3858399	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3858400	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4369370	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4753846	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4753847	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4754343	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4754345	0.80[CEU][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4754347	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4754348	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4754349	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4754352	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56031943	0.89[EUR][1000 genomes]
rs57535472	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs58064663	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs58210719	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58286414	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61158618	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61338713	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61913962	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61913965	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61913966	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61913967	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61913970	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61913972	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61913975	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61913978	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61913979	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61913980	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61914000	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61914001	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61914002	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61914003	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61914008	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61914010	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61914011	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61915779	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7106807	0.93[YRI][hapmap]
rs7109110	1.00[YRI][hapmap]
rs7109179	1.00[YRI][hapmap]
rs73001741	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73001761	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73001775	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73005539	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73007427	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7342253	1.00[YRI][hapmap]
rs7929609	0.93[YRI][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	nsv1052254	chr11:108122683-108845008	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh 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	nsv541164	chr11:108122683-108845008	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv898386	chr11:108409442-108831875	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv898388	chr11:108440814-108724639	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv832264	chr11:108449613-108623720	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS 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	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108536600-108578400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:108537800-108560200	Weak transcription	Small Intestine	intestine
3	chr11:108538200-108574800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr11:108540400-108560600	Weak transcription	Pancreas	Pancrea
5	chr11:108541400-108562800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:108541400-108578200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:108543600-108575200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr11:108544200-108569000	Weak transcription	Fetal Heart	heart
9	chr11:108544600-108552800	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr11:108544600-108553400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:108545600-108552600	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr11:108545600-108552600	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr11:108546000-108553200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr11:108546000-108554400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr11:108546800-108556800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr11:108546800-108561000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:108546800-108569400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr11:108548200-108553400	Weak transcription	Thymus	Thymus
19	chr11:108548200-108556400	Weak transcription	NHEK	skin
20	chr11:108548200-108556800	Weak transcription	Fetal Stomach	stomach
21	chr11:108548200-108557400	Weak transcription	Fetal Intestine Small	intestine
22	chr11:108548200-108557600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr11:108548200-108560400	Weak transcription	Spleen	Spleen
24	chr11:108548200-108560600	Weak transcription	Esophagus	oesophagus
25	chr11:108548200-108561000	Weak transcription	Lung	lung
26	chr11:108548200-108561200	Weak transcription	Gastric	stomach
27	chr11:108548200-108562800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:108548200-108577600	Weak transcription	Colonic Mucosa	Colon
29	chr11:108548400-108556400	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr11:108548400-108556800	Weak transcription	Brain Substantia Nigra	brain
31	chr11:108548400-108559800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr11:108548400-108577200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr11:108548600-108557200	Weak transcription	Brain Germinal Matrix	brain
34	chr11:108548600-108559600	Weak transcription	Brain Cingulate Gyrus	brain
35	chr11:108548600-108560000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr11:108548600-108570200	Weak transcription	Fetal Kidney	kidney
37	chr11:108548600-108577400	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr11:108548800-108553800	Weak transcription	Psoas Muscle	Psoas
39	chr11:108548800-108556200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr11:108548800-108557600	Weak transcription	Aorta	Aorta
41	chr11:108548800-108559800	Weak transcription	Brain Anterior Caudate	brain
42	chr11:108548800-108559800	Weak transcription	HSMMtube	muscle
43	chr11:108548800-108561200	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr11:108548800-108561200	Weak transcription	Rectal Smooth Muscle	rectum
45	chr11:108548800-108564200	Weak transcription	Hela-S3	cervix
46	chr11:108548800-108577400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr11:108549000-108565800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr11:108549200-108556400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr11:108549200-108556800	Weak transcription	Ovary	ovary
50	chr11:108549200-108558400	Weak transcription	HepG2	liver

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