Variant report

Variant	rs1986351
Chromosome Location	chr3:121452036-121452037
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:121451393..121453533-chr3:121465182..121467129,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12631824	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13067629	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1574655	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1574735	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1919552	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1919557	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1986874	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2001390	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2001391	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6791896	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6792659	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6794341	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6794677	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6803839	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6807711	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7429247	0.81[EUR][1000 genomes]
rs7430165	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7646585	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9812411	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9829053	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9832267	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9835182	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9854052	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9861992	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9864907	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9876021	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv591395	chr3:120970900-121501070	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv591396	chr3:120970900-121557533	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats 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	50 gene(s)	inside rSNPs	diseases
3	nsv591397	chr3:120977383-121505882	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	nsv829703	chr3:121383290-121534493	Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
8	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1986351	HCLS1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:121436600-121466600	Weak transcription	Stomach Mucosa	stomach
2	chr3:121439400-121467200	Weak transcription	Small Intestine	intestine
3	chr3:121443400-121464800	Weak transcription	Fetal Brain Male	brain
4	chr3:121444600-121455200	Weak transcription	Psoas Muscle	Psoas
5	chr3:121444600-121466400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr3:121444800-121457200	Weak transcription	Gastric	stomach
7	chr3:121444800-121457200	Weak transcription	Right Ventricle	heart
8	chr3:121444800-121457400	Weak transcription	Pancreas	Pancrea
9	chr3:121444800-121458800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr3:121444800-121458800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr3:121444800-121466400	Weak transcription	Colonic Mucosa	Colon
12	chr3:121444800-121467200	Weak transcription	Aorta	Aorta
13	chr3:121444800-121467400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:121444800-121467400	Weak transcription	Spleen	Spleen
15	chr3:121445200-121457200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr3:121445200-121457800	Weak transcription	Lung	lung
17	chr3:121445200-121466200	Weak transcription	Fetal Intestine Small	intestine
18	chr3:121445200-121466800	Weak transcription	Thymus	Thymus
19	chr3:121445200-121467400	Weak transcription	Esophagus	oesophagus
20	chr3:121445800-121467000	Weak transcription	Fetal Stomach	stomach
21	chr3:121445800-121467400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr3:121447400-121456800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr3:121447600-121467000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr3:121447800-121452400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr3:121447800-121466400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr3:121447800-121467000	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr3:121448000-121453400	Weak transcription	A549	lung
28	chr3:121448000-121453800	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr3:121448000-121457800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr3:121448000-121466400	Weak transcription	Colon Smooth Muscle	Colon
31	chr3:121448000-121466400	Weak transcription	Fetal Kidney	kidney
32	chr3:121448200-121458400	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr3:121448200-121458800	Weak transcription	Dnd41	blood
34	chr3:121448200-121466600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr3:121448400-121466400	Weak transcription	HSMM	muscle
36	chr3:121448400-121466800	Weak transcription	Hela-S3	cervix
37	chr3:121448600-121458800	Weak transcription	Adipose Nuclei	Adipose
38	chr3:121448600-121466400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr3:121448800-121452400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr3:121448800-121453000	Weak transcription	GM12878-XiMat	blood
41	chr3:121448800-121453400	Weak transcription	NHLF	lung
42	chr3:121448800-121453600	Weak transcription	NH-A	brain
43	chr3:121448800-121453600	Weak transcription	NHDF-Ad	bronchial
44	chr3:121448800-121453800	Weak transcription	Osteobl	bone
45	chr3:121448800-121455200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr3:121448800-121457400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr3:121448800-121457800	Weak transcription	Stomach Smooth Muscle	stomach
48	chr3:121448800-121458800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr3:121448800-121459200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr3:121448800-121460000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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