Variant report

Variant	rs1324931
Chromosome Location	chr9:115634282-115634283
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:115628888..115632126-chr9:115633392..115636528,4	K562	blood:
2	chr9:115629889..115631673-chr9:115633392..115635288,2	K562	blood:
3	chr9:115632762..115634297-chr9:115636411..115638284,2	K562	blood:

Extended variants
information (count: 128 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:123)

rs_ID	r²[population]
rs10114602	0.85[EUR][1000 genomes]
rs10114623	0.85[EUR][1000 genomes]
rs10115576	1.00[CEU][hapmap];0.88[GIH][hapmap];0.82[TSI][hapmap];0.81[EUR][1000 genomes]
rs10115711	0.82[CEU][hapmap];1.00[ASN][1000 genomes]
rs10116897	0.85[EUR][1000 genomes]
rs10124260	0.85[CEU][hapmap];1.00[ASN][1000 genomes]
rs10124939	0.82[CEU][hapmap];0.88[GIH][hapmap]
rs10124979	0.82[CEU][hapmap];1.00[ASN][1000 genomes]
rs1041086	0.93[EUR][1000 genomes]
rs10733594	0.85[CEU][hapmap];1.00[ASN][1000 genomes]
rs10733598	1.00[CEU][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10733599	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs10739370	0.82[CEU][hapmap];1.00[ASN][1000 genomes]
rs10739373	0.85[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10739374	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10739376	1.00[CEU][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10739377	0.85[EUR][1000 genomes]
rs10739378	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs10739379	0.98[EUR][1000 genomes]
rs10759590	1.00[CEU][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10759603	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10759604	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10981534	0.85[EUR][1000 genomes]
rs1158331	1.00[ASN][1000 genomes]
rs1324930	0.85[EUR][1000 genomes]
rs1324932	0.85[EUR][1000 genomes]
rs1361720	0.85[CEU][hapmap]
rs1418409	0.85[CEU][hapmap];1.00[ASN][1000 genomes]
rs1475293	1.00[CEU][hapmap];0.88[GIH][hapmap];0.82[TSI][hapmap];0.85[EUR][1000 genomes]
rs1539338	0.85[CEU][hapmap];1.00[ASN][1000 genomes]
rs1570754	1.00[ASN][1000 genomes]
rs1693411	1.00[ASN][1000 genomes]
rs1711746	1.00[ASN][1000 genomes]
rs1711747	0.86[GIH][hapmap];1.00[ASN][1000 genomes]
rs1832890	1.00[ASN][1000 genomes]
rs1891402	0.85[CEU][hapmap];1.00[ASN][1000 genomes]
rs1891403	0.85[CEU][hapmap];0.88[GIH][hapmap]
rs2025544	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs2051018	1.00[ASN][1000 genomes]
rs2147643	1.00[ASN][1000 genomes]
rs2147646	1.00[ASN][1000 genomes]
rs2153837	0.81[GIH][hapmap];1.00[ASN][1000 genomes]
rs2182048	1.00[ASN][1000 genomes]
rs2185769	1.00[ASN][1000 genomes]
rs2645985	1.00[ASN][1000 genomes]
rs2645993	0.85[CEU][hapmap]
rs2645994	0.87[GIH][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs2796025	1.00[ASN][1000 genomes]
rs2796028	0.85[CEU][hapmap];1.00[ASN][1000 genomes]
rs2796031	1.00[ASN][1000 genomes]
rs2796035	1.00[ASN][1000 genomes]
rs4246892	0.85[CEU][hapmap];1.00[ASN][1000 genomes]
rs4304397	0.85[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap]
rs4360356	1.00[ASN][1000 genomes]
rs4549852	1.00[ASN][1000 genomes]
rs4978507	0.85[CEU][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4978509	0.85[EUR][1000 genomes]
rs4978510	1.00[ASN][1000 genomes]
rs4978511	0.82[CEU][hapmap];0.88[GIH][hapmap]
rs4979153	0.85[CEU][hapmap]
rs4979154	0.85[CEU][hapmap];1.00[ASN][1000 genomes]
rs4979155	1.00[ASN][1000 genomes]
rs4979157	0.85[CEU][hapmap];1.00[ASN][1000 genomes]
rs4979165	0.85[CEU][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4979170	1.00[CEU][hapmap];0.94[TSI][hapmap];0.93[EUR][1000 genomes]
rs4979173	0.93[EUR][1000 genomes]
rs4979175	0.85[EUR][1000 genomes]
rs4979176	0.98[EUR][1000 genomes]
rs4979177	0.90[EUR][1000 genomes]
rs4979178	0.90[EUR][1000 genomes]
rs4979183	1.00[ASN][1000 genomes]
rs4979184	1.00[ASN][1000 genomes]
rs4979186	1.00[ASN][1000 genomes]
rs62576453	0.84[EUR][1000 genomes]
rs6477959	0.85[CEU][hapmap];1.00[ASN][1000 genomes]
rs700122	0.85[CEU][hapmap];1.00[ASN][1000 genomes]
rs7023956	0.81[EUR][1000 genomes]
rs7026450	1.00[ASN][1000 genomes]
rs7030795	0.85[CEU][hapmap];1.00[ASN][1000 genomes]
rs7038684	1.00[ASN][1000 genomes]
rs7040954	1.00[ASN][1000 genomes]
rs7041965	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7047914	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7859175	0.85[CEU][hapmap];1.00[ASN][1000 genomes]
rs7868830	0.85[CEU][hapmap]
rs7869100	1.00[ASN][1000 genomes]
rs786961	0.87[GIH][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs786965	1.00[ASN][1000 genomes]
rs786966	0.87[GIH][hapmap];1.00[ASN][1000 genomes]
rs786967	1.00[ASN][1000 genomes]
rs786968	0.87[GIH][hapmap];1.00[ASN][1000 genomes]
rs786969	1.00[ASN][1000 genomes]
rs786972	1.00[ASN][1000 genomes]
rs786973	1.00[ASN][1000 genomes]
rs786977	0.87[GIH][hapmap];1.00[ASN][1000 genomes]
rs7872628	1.00[ASN][1000 genomes]
rs787271	0.85[CEU][hapmap];0.88[GIH][hapmap]
rs787274	0.88[GIH][hapmap]
rs787276	0.85[CEU][hapmap]
rs787278	1.00[ASN][1000 genomes]
rs787280	0.85[CEU][hapmap];0.88[GIH][hapmap]
rs787281	1.00[ASN][1000 genomes]
rs787284	0.85[CEU][hapmap]
rs787285	1.00[ASN][1000 genomes]
rs787286	1.00[ASN][1000 genomes]
rs787287	0.85[CEU][hapmap];1.00[ASN][1000 genomes]
rs787291	1.00[ASN][1000 genomes]
rs787294	0.85[CEU][hapmap]
rs787295	0.85[CEU][hapmap];0.88[GIH][hapmap]
rs787296	1.00[ASN][1000 genomes]
rs787297	0.85[CEU][hapmap];0.88[GIH][hapmap]
rs787298	0.85[CEU][hapmap]
rs787299	0.85[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];1.00[ASN][1000 genomes]
rs787301	0.85[CEU][hapmap];0.87[GIH][hapmap]
rs787302	0.85[CEU][hapmap];1.00[ASN][1000 genomes]
rs787303	1.00[ASN][1000 genomes]
rs7873289	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs813101	0.85[CEU][hapmap]
rs885387	0.85[CEU][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs912662	1.00[ASN][1000 genomes]
rs9409123	0.85[CEU][hapmap]
rs947609	1.00[ASN][1000 genomes]
rs980345	1.00[ASN][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	esv2758198	chr9:115240454-116002951	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759710	chr9:115240454-116002951	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers 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 target site	57 gene(s)	inside rSNPs	diseases
3	nsv893733	chr9:115397206-115712068	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	esv2422302	chr9:115550339-115656433	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv1047000	chr9:115610445-115884038	ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers 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 target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1324931	TSCOT	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:115594200-115634400	Weak transcription	NH-A	brain
2	chr9:115601200-115641200	Weak transcription	Fetal Brain Male	brain
3	chr9:115607400-115643400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr9:115611400-115634600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr9:115612000-115634600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr9:115613600-115642600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr9:115615600-115639200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr9:115615600-115646400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr9:115621200-115639400	Weak transcription	Stomach Mucosa	stomach
10	chr9:115624200-115652600	Weak transcription	Fetal Heart	heart
11	chr9:115624800-115635200	Strong transcription	Primary T cells from cord blood	blood
12	chr9:115625800-115645200	Weak transcription	Thymus	Thymus
13	chr9:115626000-115636200	Weak transcription	NHLF	lung
14	chr9:115626400-115635000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr9:115626400-115635200	Strong transcription	Fetal Stomach	stomach
16	chr9:115626400-115650800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr9:115627000-115647000	Weak transcription	Colonic Mucosa	Colon
18	chr9:115627200-115637200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr9:115627600-115642000	Weak transcription	Primary hematopoietic stem cells	blood
20	chr9:115627600-115646800	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr9:115627800-115640600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr9:115628600-115640800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr9:115630600-115634800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr9:115630600-115636400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr9:115630600-115642000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr9:115630600-115643400	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr9:115630600-115646400	Weak transcription	Fetal Lung	lung
28	chr9:115630600-115647200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr9:115630800-115634800	Strong transcription	Brain Hippocampus Middle	brain
30	chr9:115630800-115634800	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr9:115630800-115636000	Weak transcription	NHDF-Ad	bronchial
32	chr9:115630800-115643400	Weak transcription	NHEK	skin
33	chr9:115630800-115643600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr9:115630800-115643600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr9:115630800-115646400	Weak transcription	Placenta	Placenta
36	chr9:115631000-115639200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr9:115631200-115634400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr9:115631200-115634600	Strong transcription	Lung	lung
39	chr9:115631200-115634800	Strong transcription	Fetal Intestine Large	intestine
40	chr9:115631200-115634800	Strong transcription	Spleen	Spleen
41	chr9:115631200-115639600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr9:115631200-115643600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr9:115631200-115646400	Weak transcription	Fetal Kidney	kidney
44	chr9:115631400-115643800	Weak transcription	Colon Smooth Muscle	Colon
45	chr9:115631600-115642800	Weak transcription	Ovary	ovary
46	chr9:115631800-115635000	Strong transcription	Fetal Intestine Small	intestine
47	chr9:115631800-115642800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr9:115631800-115642800	Weak transcription	HSMM	muscle
49	chr9:115631800-115646400	Weak transcription	Rectal Smooth Muscle	rectum
50	chr9:115631800-115652200	Weak transcription	Gastric	stomach

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