Variant report

Variant	rs1966052
Chromosome Location	chr4:151345047-151345048
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10027598	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10029305	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11099762	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11099766	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11931175	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12331720	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12512600	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12648307	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13105658	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13111441	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13144332	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1504780	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1504781	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1504784	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1532822	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17504421	0.82[AMR][1000 genomes]
rs1910720	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1910721	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1987393	0.82[CHD][hapmap];0.82[MEX][hapmap]
rs2001835	0.91[ASN][1000 genomes]
rs2134958	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2134960	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2135780	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2174366	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2884894	0.81[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs4396971	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4431210	1.00[CEU][hapmap]
rs4579100	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4639047	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4696186	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4696537	1.00[CEU][hapmap]
rs6535736	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6832193	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6834928	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.92[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6848343	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6857952	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7356294	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7666634	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7667511	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7670869	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7671685	0.84[EUR][1000 genomes]
rs7674989	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7676219	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7678429	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7689850	0.93[ASW][hapmap];1.00[CEU][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.96[LWK][hapmap];0.92[MEX][hapmap];0.99[MKK][hapmap];0.90[TSI][hapmap];0.82[YRI][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7698007	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7698975	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs905767	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9307876	0.82[AMR][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	nsv932022	chr4:150831733-151419552	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv880256	chr4:151126725-151751369	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv880259	chr4:151210761-151367745	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv817540	chr4:151228965-151858609	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv830112	chr4:151243801-151431771	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151272000-151371400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr4:151286600-151355600	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr4:151290200-151367400	Weak transcription	K562	blood
4	chr4:151292400-151361000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr4:151307000-151348800	Weak transcription	Aorta	Aorta
6	chr4:151313200-151358200	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr4:151313600-151358000	Weak transcription	GM12878-XiMat	blood
8	chr4:151315800-151359400	Weak transcription	Primary B cells from peripheral blood	blood
9	chr4:151317400-151358800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr4:151319000-151371000	Weak transcription	Left Ventricle	heart
11	chr4:151331400-151358800	Weak transcription	Liver	Liver
12	chr4:151332800-151353000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr4:151333000-151357800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr4:151333000-151408000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr4:151333200-151351600	Weak transcription	Primary B cells from cord blood	blood
16	chr4:151333600-151355600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr4:151334200-151347200	Weak transcription	Fetal Thymus	thymus
18	chr4:151334600-151345800	Weak transcription	NHEK	skin
19	chr4:151335400-151352800	Weak transcription	Esophagus	oesophagus
20	chr4:151337200-151363200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr4:151340600-151346000	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr4:151342800-151345200	Weak transcription	Brain Germinal Matrix	brain
23	chr4:151342800-151345200	Strong transcription	Fetal Intestine Small	intestine
24	chr4:151342800-151346000	Strong transcription	Fetal Intestine Large	intestine
25	chr4:151343000-151345400	Weak transcription	Colonic Mucosa	Colon
26	chr4:151343000-151345400	Weak transcription	Right Ventricle	heart
27	chr4:151343000-151346400	Weak transcription	Stomach Smooth Muscle	stomach
28	chr4:151343200-151350600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr4:151343400-151345600	Weak transcription	Fetal Muscle Trunk	muscle
30	chr4:151343600-151345200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr4:151343600-151356400	Weak transcription	Primary T cells from cord blood	blood
32	chr4:151344000-151345400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr4:151344000-151349600	Weak transcription	HSMM	muscle
34	chr4:151344200-151345600	Weak transcription	Pancreas	Pancrea
35	chr4:151344200-151346400	Weak transcription	Fetal Muscle Leg	muscle
36	chr4:151344200-151353400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr4:151344400-151348600	Weak transcription	Thymus	Thymus
38	chr4:151344600-151346200	Weak transcription	Colon Smooth Muscle	Colon
39	chr4:151344600-151348400	Weak transcription	Fetal Stomach	stomach
40	chr4:151344800-151350400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr4:151344800-151355200	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr4:151344800-151355600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr4:151344800-151355600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr4:151344800-151355600	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr4:151344800-151356200	Weak transcription	Spleen	Spleen
46	chr4:151344800-151361600	Weak transcription	Gastric	stomach
47	chr4:151344800-151387200	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr4:151345000-151346800	Weak transcription	Small Intestine	intestine
49	chr4:151345000-151355600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr4:151345000-151355800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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