Variant report

Variant	rs12100323
Chromosome Location	chr13:98088761-98088762
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:98088366..98091907-chr13:98092585..98097383,6	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10161693	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12100327	0.87[AMR][1000 genomes]
rs12184576	1.00[EUR][1000 genomes]
rs13378459	1.00[AMR][1000 genomes]
rs13378494	0.93[EUR][1000 genomes]
rs16954162	0.93[EUR][1000 genomes]
rs34575456	0.87[EUR][1000 genomes]
rs45560245	1.00[EUR][1000 genomes]
rs60500694	1.00[EUR][1000 genomes]
rs7318655	0.93[EUR][1000 genomes]
rs73564120	0.93[EUR][1000 genomes]
rs73564126	0.93[EUR][1000 genomes]
rs73564135	0.93[EUR][1000 genomes]
rs73564148	0.93[EUR][1000 genomes]
rs74105181	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9300411	1.00[EUR][1000 genomes]
rs9300412	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9300413	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9300414	0.86[AFR][1000 genomes]
rs9582132	1.00[EUR][1000 genomes]
rs9582133	1.00[EUR][1000 genomes]
rs9582134	1.00[EUR][1000 genomes]
rs9582135	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9582136	0.93[EUR][1000 genomes]
rs9582137	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9582138	0.80[EUR][1000 genomes]
rs9582139	0.80[EUR][1000 genomes]
rs9582144	0.93[EUR][1000 genomes]
rs9582147	0.86[EUR][1000 genomes]
rs9584567	1.00[AMR][1000 genomes]
rs9584570	0.87[AMR][1000 genomes]
rs9584575	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9584577	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9584578	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9584579	1.00[EUR][1000 genomes]
rs9584580	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9584581	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9584582	1.00[EUR][1000 genomes]
rs9584583	1.00[EUR][1000 genomes]
rs9584595	0.93[EUR][1000 genomes]
rs9584596	0.93[EUR][1000 genomes]
rs9584598	0.93[EUR][1000 genomes]
rs9584599	0.93[EUR][1000 genomes]
rs9584600	0.87[EUR][1000 genomes]
rs9584615	0.93[EUR][1000 genomes]
rs9584626	0.87[EUR][1000 genomes]
rs9805408	0.87[EUR][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	nsv832694	chr13:97930561-98137882	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS 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	4 gene(s)	inside rSNPs	diseases
2	esv1791802	chr13:98076911-98096882	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv1804050	chr13:98076911-98096882	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv1794802	chr13:98076911-98106042	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv1797132	chr13:98076911-98106042	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:98083400-98088800	Active TSS	GM12878-XiMat	blood
2	chr13:98083800-98089200	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr13:98084000-98088800	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr13:98084000-98088800	Active TSS	Fetal Kidney	kidney
5	chr13:98084000-98089200	Active TSS	NHLF	lung
6	chr13:98084200-98089000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr13:98084200-98089000	Active TSS	NHDF-Ad	bronchial
8	chr13:98084400-98088800	Active TSS	H1 Cell Line	embryonic stem cell
9	chr13:98084400-98088800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr13:98084400-98088800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr13:98084400-98088800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr13:98084400-98089000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr13:98084400-98089200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr13:98084400-98089200	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr13:98084400-98089600	Active TSS	Right Atrium	heart
16	chr13:98084600-98088800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr13:98084600-98088800	Active TSS	HMEC	breast
18	chr13:98084600-98089000	Active TSS	Brain Cingulate Gyrus	brain
19	chr13:98084600-98089200	Active TSS	Ovary	ovary
20	chr13:98084600-98089600	Active TSS	Aorta	Aorta
21	chr13:98084600-98090000	Active TSS	Fetal Brain Female	brain
22	chr13:98084800-98089800	Active TSS	Brain Anterior Caudate	brain
23	chr13:98087200-98089200	Flanking Active TSS	Adipose Nuclei	Adipose
24	chr13:98087400-98090400	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr13:98087400-98090400	Weak transcription	Spleen	Spleen
26	chr13:98087400-98101000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr13:98087400-98122200	Weak transcription	Gastric	stomach
28	chr13:98087600-98089000	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr13:98087600-98089200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr13:98087600-98089200	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr13:98087600-98089600	Flanking Active TSS	Dnd41	blood
32	chr13:98087600-98089800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr13:98087600-98091200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr13:98087600-98091200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr13:98087600-98101200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr13:98087600-98104600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr13:98087600-98116400	Weak transcription	Esophagus	oesophagus
38	chr13:98087600-98124400	Weak transcription	Pancreas	Pancrea
39	chr13:98087800-98088800	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr13:98087800-98089000	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr13:98087800-98089200	Enhancers	Primary B cells from cord blood	blood
42	chr13:98087800-98089200	Enhancers	Primary hematopoietic stem cells	blood
43	chr13:98087800-98090000	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr13:98087800-98092200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr13:98088000-98089200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr13:98088000-98089200	Flanking Active TSS	Fetal Lung	lung
47	chr13:98088000-98089200	Flanking Active TSS	HUVEC	blood vessel
48	chr13:98088000-98089800	Enhancers	Small Intestine	intestine
49	chr13:98088000-98090600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr13:98088200-98088800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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