Variant report

Variant	rs2700414
Chromosome Location	chr3:121585151-121585152
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	chr3:121585044..121587852-chr3:121590629..121592381,2	K562	blood:

Extended variants
information (count: 87 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10470411	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10470412	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10511407	1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10934561	1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs11713268	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11915822	0.82[JPT][hapmap]
rs11919421	0.82[JPT][hapmap]
rs12486309	0.93[EUR][1000 genomes]
rs12486310	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12486456	1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs12487516	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12488692	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12489142	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12489686	1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs12491109	1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs12492214	1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs12492861	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12493270	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12629720	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12634458	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12636562	0.85[JPT][hapmap]
rs12695417	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13100245	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13321798	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1881997	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1881998	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1919554	0.82[JPT][hapmap]
rs1919556	0.85[JPT][hapmap]
rs1920307	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1920310	1.00[CHB][hapmap]
rs2222826	0.87[EUR][1000 genomes]
rs2293613	1.00[CHB][hapmap]
rs2689274	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2689278	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2689279	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2689280	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2689286	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2700412	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2700413	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2700419	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28844130	0.87[EUR][1000 genomes]
rs34241542	0.87[EUR][1000 genomes]
rs35354585	0.87[EUR][1000 genomes]
rs35692621	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35723704	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3805125	1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3805129	1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3805132	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4048630	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41271411	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4602434	1.00[CHB][hapmap]
rs4603998	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4610269	1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4676760	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4676761	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4676762	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57365001	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57473053	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58485759	0.87[EUR][1000 genomes]
rs59064186	0.87[EUR][1000 genomes]
rs61567016	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6438681	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72959293	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72961314	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7619918	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7620562	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7625960	1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7626052	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7627291	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7643293	0.85[JPT][hapmap]
rs7647585	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7650341	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9818733	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9831798	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9832735	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9834185	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9865926	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9869891	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9877671	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9882841	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432480	chr3:121355723-121629928	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv432482	chr3:121364236-121629634	Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv432481	chr3:121364236-121637178	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv516233	chr3:121419301-121670405	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS 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	37 gene(s)	inside rSNPs	diseases
5	nsv877383	chr3:121465220-121650736	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS 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	35 gene(s)	inside rSNPs	diseases
6	nsv432483	chr3:121488995-121629634	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	esv33139	chr3:121500400-122091831	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2700414	HCLS1	cis	multi-tissue	Pritchard

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:121554800-121604000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr3:121555000-121585600	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr3:121555000-121592600	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr3:121555000-121593400	Weak transcription	Liver	Liver
5	chr3:121555200-121592000	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr3:121555600-121586200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr3:121555600-121593800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr3:121555800-121615600	Weak transcription	Primary T cells from cord blood	blood
9	chr3:121556600-121591400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr3:121559200-121613200	Weak transcription	Brain Angular Gyrus	brain
11	chr3:121570200-121586000	Weak transcription	Pancreas	Pancrea
12	chr3:121571400-121604200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr3:121574600-121593200	Weak transcription	HepG2	liver
14	chr3:121574800-121586200	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr3:121575800-121586000	Weak transcription	Fetal Muscle Trunk	muscle
16	chr3:121581000-121588200	Strong transcription	Primary B cells from peripheral blood	blood
17	chr3:121582400-121586600	Weak transcription	Spleen	Spleen
18	chr3:121582600-121586200	Weak transcription	Thymus	Thymus
19	chr3:121582600-121586800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr3:121582600-121591400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr3:121582600-121591800	Weak transcription	Lung	lung
22	chr3:121582800-121587000	Strong transcription	GM12878-XiMat	blood
23	chr3:121583200-121586600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr3:121583200-121586600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr3:121583200-121586600	Weak transcription	Fetal Intestine Small	intestine
26	chr3:121583200-121593000	Weak transcription	Brain Anterior Caudate	brain
27	chr3:121583200-121593400	Weak transcription	Dnd41	blood
28	chr3:121583200-121597600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr3:121583400-121612400	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr3:121584200-121585200	Strong transcription	Duodenum Mucosa	Duodenum
31	chr3:121584200-121586800	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr3:121584600-121585200	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr3:121584600-121586800	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr3:121585000-121588600	Weak transcription	Primary B cells from cord blood	blood
35	chr3:121585000-121591400	Weak transcription	Primary hematopoietic stem cells	blood
36	chr3:121585000-121607600	Weak transcription	Aorta	Aorta
37	chr3:121585000-121613200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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