Variant report

Variant	rs6797459
Chromosome Location	chr3:119655338-119655339
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	chr3:119655041..119657977-chr3:119815420..119818415,2	K562	blood:

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10433404	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10934500	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10934502	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10934503	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10934505	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10934506	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10934507	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11915717	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11917714	0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12054090	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12108149	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12629015	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12630829	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12634476	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12634889	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12635018	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12638973	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1574154	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16830567	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1870931	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1980718	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2276707	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2873950	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28831519	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3814057	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs3814058	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4340737	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4624596	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4688042	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4688046	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4688047	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4688053	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4688054	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4688059	0.87[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs56728675	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57939147	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58493895	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs58863896	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60235167	0.87[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs60389731	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs60393216	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62264706	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62264708	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62264714	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62264734	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62264739	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62264742	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62264743	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62264747	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62264749	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62266274	0.86[AFR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62266277	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62266281	0.86[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs6773751	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6808874	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7633279	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7639388	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949589	chr3:119560606-120175917	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv829696	chr3:119567659-119711405	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1001476	chr3:119575386-120075417	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv536704	chr3:119575386-120075417	Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
5	esv3505316	chr3:119654062-119658060	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3505317	chr3:119654512-119657910	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3463495	chr3:119655022-119656975	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv3463496	chr3:119655068-119656952	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv3505315	chr3:119655076-119656944	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv3505313	chr3:119655078-119656934	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv3505311	chr3:119655100-119656973	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
12	esv3505319	chr3:119655112-119656910	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
13	esv3505312	chr3:119655112-119656912	Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
14	esv3505314	chr3:119655167-119656865	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
15	esv3463498	chr3:119655171-119656863	Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
16	esv3505320	chr3:119655171-119656863	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119546000-119663400	Weak transcription	Lung	lung
2	chr3:119597600-119659000	Weak transcription	Gastric	stomach
3	chr3:119608200-119677800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr3:119611200-119667000	Weak transcription	Pancreas	Pancrea
5	chr3:119611400-119682200	Weak transcription	HSMMtube	muscle
6	chr3:119625000-119668200	Weak transcription	Hela-S3	cervix
7	chr3:119628200-119655600	Weak transcription	Fetal Heart	heart
8	chr3:119628200-119663200	Weak transcription	Right Atrium	heart
9	chr3:119629600-119672200	Weak transcription	Fetal Stomach	stomach
10	chr3:119630800-119663200	Weak transcription	Esophagus	oesophagus
11	chr3:119630800-119697400	Weak transcription	Thymus	Thymus
12	chr3:119631000-119717000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr3:119631400-119660800	Weak transcription	Fetal Muscle Leg	muscle
14	chr3:119631600-119656000	Weak transcription	NHEK	skin
15	chr3:119633400-119655600	Weak transcription	Fetal Kidney	kidney
16	chr3:119634000-119656200	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr3:119635000-119665400	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr3:119635000-119667000	Weak transcription	Placenta	Placenta
19	chr3:119635400-119664600	Weak transcription	HMEC	breast
20	chr3:119636400-119667200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr3:119638800-119655400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr3:119638800-119656000	Weak transcription	Primary T cells from cord blood	blood
23	chr3:119640000-119663800	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr3:119640200-119655800	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr3:119640400-119656000	Weak transcription	Primary hematopoietic stem cells	blood
26	chr3:119640600-119664400	Weak transcription	HSMM	muscle
27	chr3:119640600-119665000	Weak transcription	Primary B cells from peripheral blood	blood
28	chr3:119640600-119672400	Weak transcription	Osteobl	bone
29	chr3:119640800-119658000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr3:119640800-119665400	Weak transcription	Fetal Thymus	thymus
31	chr3:119641000-119655400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr3:119641000-119661800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr3:119641000-119662600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr3:119641000-119663800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr3:119641000-119681600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr3:119641000-119681600	Weak transcription	Fetal Intestine Small	intestine
37	chr3:119641000-119694400	Weak transcription	Fetal Lung	lung
38	chr3:119641200-119664400	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr3:119641200-119666400	Weak transcription	HepG2	liver
40	chr3:119641200-119681200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr3:119642200-119656000	Weak transcription	Dnd41	blood
42	chr3:119642200-119665600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr3:119643400-119655600	Weak transcription	Primary B cells from cord blood	blood
44	chr3:119643400-119655600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr3:119644400-119655600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr3:119644400-119658000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr3:119644600-119655600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr3:119644800-119655600	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr3:119645400-119669600	Weak transcription	Psoas Muscle	Psoas
50	chr3:119645600-119656000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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