Variant report

Variant	rs11730441
Chromosome Location	chr4:48168428-48168429
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	chr4:48168015..48170294-chr4:48173927..48176191,2	K562	blood:
2	chr4:48167349..48169980-chr4:48272046..48273556,2	K562	blood:

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs1008277	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs10805164	0.92[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10805165	0.92[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10938522	0.94[EUR][1000 genomes]
rs11733531	0.93[EUR][1000 genomes]
rs11941829	0.93[EUR][1000 genomes]
rs11945978	0.88[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.85[JPT][hapmap];0.91[MEX][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12499541	1.00[CHB][hapmap];0.92[CHD][hapmap];0.85[JPT][hapmap];0.91[ASN][1000 genomes]
rs12502268	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12502528	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs12512837	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12649067	0.99[EUR][1000 genomes]
rs13104849	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.85[JPT][hapmap];0.87[MEX][hapmap];0.82[YRI][hapmap]
rs13146998	0.95[EUR][1000 genomes]
rs1466990	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1466991	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1466992	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1466993	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1466994	0.94[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.85[JPT][hapmap];0.91[MEX][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1466995	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1466996	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1507919	0.85[JPT][hapmap]
rs1961974	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1961975	0.92[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.85[JPT][hapmap];0.87[MEX][hapmap];0.82[YRI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2071027	0.96[CEU][hapmap];0.86[EUR][1000 genomes]
rs2089509	0.94[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.85[JPT][hapmap];0.91[MEX][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2089510	0.85[JPT][hapmap]
rs2089511	0.92[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2243840	0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs2256425	0.95[EUR][1000 genomes]
rs2271173	1.00[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.85[JPT][hapmap];0.91[MEX][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2271174	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2661529	0.85[JPT][hapmap]
rs2661547	0.85[JPT][hapmap]
rs2661548	0.85[JPT][hapmap]
rs2704399	0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs2704426	0.85[JPT][hapmap]
rs34990592	0.92[EUR][1000 genomes]
rs3792620	0.92[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3792621	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3792622	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.85[JPT][hapmap];0.91[MEX][hapmap];0.99[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3805179	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3805184	0.85[JPT][hapmap]
rs3913948	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4323077	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4392481	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4392482	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4504220	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4695339	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4695340	0.94[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.85[JPT][hapmap];0.91[MEX][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4695341	0.85[JPT][hapmap]
rs4695342	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4695343	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4695344	0.88[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.85[JPT][hapmap];0.87[MEX][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4695346	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4695347	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4695348	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4695349	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4695350	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61326763	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62309327	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6447616	0.85[JPT][hapmap]
rs6844543	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs6845941	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6851861	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6858716	0.93[EUR][1000 genomes]
rs7654108	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7668350	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7669393	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7670351	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7671720	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7678246	0.84[ASN][1000 genomes]
rs7680519	0.94[EUR][1000 genomes]
rs7689953	0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs7695902	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7696119	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7696271	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs885443	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs955691	0.92[EUR][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	esv3447039	chr4:47822266-48285222	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv482316	chr4:48151953-48338746	Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv1006853	chr4:48164958-48196335	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48157800-48175400	Weak transcription	Colon Smooth Muscle	Colon
2	chr4:48157800-48181000	Weak transcription	Pancreas	Pancrea
3	chr4:48158400-48169600	Weak transcription	K562	blood
4	chr4:48158400-48170800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:48158400-48171400	Weak transcription	Fetal Lung	lung
6	chr4:48158400-48171400	Weak transcription	Left Ventricle	heart
7	chr4:48158400-48171400	Weak transcription	Psoas Muscle	Psoas
8	chr4:48158400-48172200	Weak transcription	Colonic Mucosa	Colon
9	chr4:48158400-48172200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr4:48158400-48175000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr4:48158400-48175600	Weak transcription	Adipose Nuclei	Adipose
12	chr4:48158400-48180600	Weak transcription	Spleen	Spleen
13	chr4:48158400-48181800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr4:48158400-48190000	Weak transcription	Aorta	Aorta
15	chr4:48158600-48179200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr4:48158600-48179400	Weak transcription	Fetal Intestine Small	intestine
17	chr4:48158800-48168800	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr4:48158800-48171000	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr4:48158800-48174600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr4:48158800-48175600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr4:48158800-48180200	Weak transcription	Fetal Thymus	thymus
22	chr4:48159400-48177200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr4:48159600-48169800	Strong transcription	GM12878-XiMat	blood
24	chr4:48159800-48169600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr4:48160400-48168800	Weak transcription	Primary B cells from cord blood	blood
26	chr4:48160400-48174400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr4:48164200-48171200	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr4:48164800-48174400	Weak transcription	HSMM	muscle
29	chr4:48164800-48174600	Weak transcription	HSMMtube	muscle
30	chr4:48164800-48175200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr4:48165000-48170200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr4:48165000-48171400	Weak transcription	Fetal Heart	heart
33	chr4:48165000-48175000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr4:48166200-48170800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr4:48166400-48168800	Weak transcription	Liver	Liver
36	chr4:48166400-48172400	Strong transcription	Primary hematopoietic stem cells	blood
37	chr4:48166400-48172600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr4:48166400-48179600	Weak transcription	Thymus	Thymus
39	chr4:48166600-48170000	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr4:48167000-48175400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr4:48167200-48175400	Weak transcription	Placenta	Placenta
42	chr4:48167600-48170600	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr4:48167600-48172600	Strong transcription	Primary B cells from peripheral blood	blood
44	chr4:48167800-48172200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr4:48168000-48169000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr4:48168000-48169000	Strong transcription	Esophagus	oesophagus
47	chr4:48168000-48169800	Strong transcription	Fetal Intestine Large	intestine
48	chr4:48168000-48170600	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr4:48168400-48170600	Weak transcription	Gastric	stomach

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