Variant report

Variant	rs1960018
Chromosome Location	chr4:147198667-147198668
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10022940	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10050271	0.89[CEU][hapmap];0.82[JPT][hapmap]
rs10212747	0.88[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1030777	0.86[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10519783	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11100922	0.89[CEU][hapmap];0.82[JPT][hapmap];0.81[AMR][1000 genomes]
rs12711434	0.96[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13109522	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13117626	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13140054	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13143634	0.87[CEU][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1485953	0.87[CEU][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17828118	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1991978	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2062436	0.84[CEU][hapmap];0.81[JPT][hapmap]
rs2062437	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2062438	0.89[CEU][hapmap];0.82[JPT][hapmap];0.81[AMR][1000 genomes]
rs2163170	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4103543	0.89[CEU][hapmap];0.82[JPT][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4835291	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6537411	1.00[CEU][hapmap];0.92[CHB][hapmap];0.95[JPT][hapmap];0.97[YRI][hapmap];0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6537414	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6537417	0.88[CEU][hapmap];0.81[JPT][hapmap]
rs6813017	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6844812	0.89[CEU][hapmap];0.82[JPT][hapmap];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6849067	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7661938	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7689364	0.89[CEU][hapmap];0.82[JPT][hapmap]
rs7693289	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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]
rs923166	0.88[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs962628	0.89[CEU][hapmap];0.82[JPT][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9991483	0.82[CEU][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461675	chr4:147116864-147768206	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv595651	chr4:147116864-147768206	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 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	chr4:147164800-147207200	Weak transcription	Thymus	Thymus
2	chr4:147165000-147207200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr4:147165200-147207200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr4:147166000-147207800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr4:147166800-147207200	Weak transcription	Right Ventricle	heart
6	chr4:147167000-147207200	Weak transcription	Aorta	Aorta
7	chr4:147167000-147217600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr4:147167400-147209000	Weak transcription	Ovary	ovary
9	chr4:147174200-147206800	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr4:147174400-147231200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr4:147174800-147207800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr4:147174800-147218400	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr4:147175400-147225400	Weak transcription	Brain Hippocampus Middle	brain
14	chr4:147175800-147206800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr4:147176800-147207200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr4:147177400-147213400	Weak transcription	Primary B cells from peripheral blood	blood
17	chr4:147178000-147200400	Weak transcription	Fetal Lung	lung
18	chr4:147178200-147207800	Weak transcription	Primary B cells from cord blood	blood
19	chr4:147179000-147207200	Weak transcription	Fetal Stomach	stomach
20	chr4:147179200-147206800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr4:147179200-147207200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr4:147179400-147205400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr4:147179400-147206800	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr4:147179400-147217200	Weak transcription	Left Ventricle	heart
25	chr4:147179600-147214200	Weak transcription	Dnd41	blood
26	chr4:147180400-147206600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr4:147180400-147233200	Weak transcription	Liver	Liver
28	chr4:147180600-147208200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr4:147182600-147207200	Weak transcription	Fetal Muscle Trunk	muscle
30	chr4:147184000-147206800	Weak transcription	Fetal Muscle Leg	muscle
31	chr4:147184000-147207200	Weak transcription	Lung	lung
32	chr4:147184600-147204200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr4:147184600-147207000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr4:147186600-147212800	Weak transcription	Psoas Muscle	Psoas
35	chr4:147188400-147215200	Weak transcription	Brain Cingulate Gyrus	brain
36	chr4:147189200-147207600	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr4:147189800-147205000	Weak transcription	Adipose Nuclei	Adipose
38	chr4:147193400-147206400	Weak transcription	Primary T cells from cord blood	blood
39	chr4:147194600-147207200	Weak transcription	Esophagus	oesophagus
40	chr4:147197000-147205000	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr4:147197000-147205000	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr4:147197200-147207200	Weak transcription	Pancreas	Pancrea
43	chr4:147197400-147206200	Weak transcription	Duodenum Mucosa	Duodenum
44	chr4:147197400-147213200	Weak transcription	K562	blood
45	chr4:147197600-147199800	Weak transcription	Fetal Heart	heart
46	chr4:147197600-147207200	Weak transcription	Fetal Intestine Large	intestine
47	chr4:147198000-147198800	ZNF genes & repeats	GM12878-XiMat	blood
48	chr4:147198000-147224000	Weak transcription	Fetal Intestine Small	intestine
49	chr4:147198200-147198800	Weak transcription	Small Intestine	intestine

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