Variant report

Variant	rs13249674
Chromosome Location	chr8:132054153-132054154
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr8:132054088-132054931	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr8:132053393-132054926	U87	brain:	n/a	n/a
3	SUZ12	chr8:132051793-132054672	NT2-D1	testis:	n/a	n/a
4	POLR2A	chr8:132053313-132054849	H1-neurons	neurons:	n/a	n/a
5	POLR2A	chr8:132053359-132055000	U87	brain:	n/a	n/a
6	CTCF	chr8:132054140-132054290	HBMEC	blood vessel:	n/a	n/a
7	E2F6	chr8:132053838-132054864	H1-hESC	embryonic stem cell:	n/a	chr8:132054708-132054717 chr8:132054437-132054444 chr8:132054437-132054444 chr8:132053843-132053854 chr8:132054436-132054445 chr8:132054710-132054719 chr8:132054437-132054444 chr8:132054436-132054448
8	RFX5	chr8:132054092-132054217	H1-hESC	embryonic stem cell:	n/a	n/a
9	E2F6	chr8:132053273-132055223	H1-hESC	embryonic stem cell:	n/a	chr8:132054708-132054717 chr8:132054437-132054444 chr8:132054437-132054444 chr8:132053843-132053854 chr8:132054436-132054445 chr8:132054710-132054719 chr8:132054437-132054444 chr8:132054436-132054448
10	REST	chr8:132053555-132054960	H1-neurons	neurons:	n/a	chr8:132054093-132054106
11	POLR2A	chr8:132053419-132054871	U87	brain:	n/a	n/a
12	POLR2A	chr8:132053359-132055006	U87	brain:	n/a	n/a
13	MAX	chr8:132053401-132054866	H1-hESC	embryonic stem cell:	n/a	n/a
14	ZNF143	chr8:132053797-132054834	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr8:132052108-132055023	H1-neurons	neurons:	n/a	n/a
16	CTBP2	chr8:132053723-132054977	H1-hESC	embryonic stem cell:	n/a	n/a
17	CHD2	chr8:132053483-132054271	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr8:132053367-132055007	H1-hESC	embryonic stem cell:	n/a	n/a
19	TBP	chr8:132053602-132054845	H1-hESC	embryonic stem cell:	n/a	n/a
20	SIN3A	chr8:132051630-132054885	H1-hESC	embryonic stem cell:	n/a	chr8:132054734-132054747 chr8:132053052-132053063
21	RAD21	chr8:132053920-132054927	H1-hESC	embryonic stem cell:	n/a	chr8:132054734-132054748
22	MAX	chr8:132051530-132054915	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ADCY8	TF binding region

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10956567	1.00[AFR][1000 genomes]
rs10956568	0.81[ASN][1000 genomes]
rs10956569	0.81[ASN][1000 genomes]
rs1157822	0.81[ASN][1000 genomes]
rs11774179	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11774222	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11775729	0.81[ASN][1000 genomes]
rs11776501	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11776563	0.81[ASN][1000 genomes]
rs11776645	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11777665	0.84[ASN][1000 genomes]
rs11778567	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11778603	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11779286	0.81[ASN][1000 genomes]
rs11781972	0.87[ASN][1000 genomes]
rs11782471	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11784371	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11784418	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11784784	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11784937	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11787293	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11995961	0.81[ASN][1000 genomes]
rs12677297	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12678370	0.81[ASN][1000 genomes]
rs12678403	0.81[ASN][1000 genomes]
rs12679474	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12680568	0.80[EUR][1000 genomes]
rs13258869	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13260940	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13261265	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13269832	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13276752	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13276850	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13278083	0.87[ASN][1000 genomes]
rs13281591	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1329799	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1329800	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1329805	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16904391	0.81[ASN][1000 genomes]
rs16904392	0.81[ASN][1000 genomes]
rs16904393	0.81[ASN][1000 genomes]
rs16904394	0.81[ASN][1000 genomes]
rs16904398	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16904413	1.00[AMR][1000 genomes]
rs16904417	1.00[AMR][1000 genomes]
rs17615395	0.82[AMR][1000 genomes]
rs2026755	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34359920	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34396484	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34543428	1.00[AMR][1000 genomes]
rs34620076	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35123544	0.81[ASN][1000 genomes]
rs35187535	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35361060	0.97[ASN][1000 genomes]
rs35631183	1.00[AMR][1000 genomes]
rs35687211	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35721413	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4389913	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4736464	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs4736728	1.00[AFR][1000 genomes]
rs59232626	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs59808230	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59889668	1.00[AMR][1000 genomes]
rs6415525	1.00[AFR][1000 genomes]
rs6415526	1.00[AFR][1000 genomes]
rs6470871	1.00[AFR][1000 genomes]
rs6470872	1.00[AFR][1000 genomes]
rs6470884	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67683764	0.81[ASN][1000 genomes]
rs6980820	0.81[ASN][1000 genomes]
rs7009319	1.00[AFR][1000 genomes]
rs71522600	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71522601	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs71522602	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71524503	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71524504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71524505	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71524513	0.82[AMR][1000 genomes]
rs7465434	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7824237	0.81[ASN][1000 genomes]
rs7840509	0.81[ASN][1000 genomes]
rs867964	0.97[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	nsv1030881	chr8:131801472-132654822	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1028579	chr8:131909872-132497149	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1026579	chr8:131922531-132695045	Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv2761471	chr8:131963290-132281905	Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv891449	chr8:132011279-132128690	Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:132050200-132055600	Bivalent/Poised TSS	Brain Anterior Caudate	brain
2	chr8:132050600-132055200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr8:132051000-132054800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:132051000-132054800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
5	chr8:132051000-132055000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr8:132051000-132055000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
7	chr8:132051200-132054600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr8:132051200-132054800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr8:132051200-132054800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
10	chr8:132051200-132055000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
11	chr8:132051200-132055000	Bivalent/Poised TSS	Brain Substantia Nigra	brain
12	chr8:132051400-132054400	Bivalent/Poised TSS	Brain Angular Gyrus	brain
13	chr8:132051600-132054400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:132051600-132054400	Enhancers	Pancreas	Pancrea
15	chr8:132051600-132055000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
16	chr8:132051800-132054200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
17	chr8:132051800-132055000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
18	chr8:132052000-132054400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:132052000-132055000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
20	chr8:132052000-132055200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
21	chr8:132052000-132055200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
22	chr8:132052000-132055200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
23	chr8:132052200-132054200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr8:132052200-132054800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr8:132052200-132055000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr8:132052200-132055000	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
27	chr8:132052200-132055000	Active TSS	Right Atrium	heart
28	chr8:132052400-132054200	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
29	chr8:132052400-132054200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr8:132052400-132054600	Bivalent Enhancer	Spleen	Spleen
31	chr8:132052400-132054800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr8:132052400-132055000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr8:132052600-132054200	Bivalent Enhancer	Fetal Stomach	stomach
34	chr8:132052600-132054800	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
35	chr8:132052800-132054400	Bivalent Enhancer	Esophagus	oesophagus
36	chr8:132052800-132055000	Bivalent Enhancer	Fetal Muscle Leg	muscle
37	chr8:132053000-132055000	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr8:132053200-132054400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr8:132053200-132054400	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
40	chr8:132053200-132054400	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
41	chr8:132053200-132054800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr8:132053200-132054800	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
43	chr8:132053200-132055000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
44	chr8:132053400-132054800	Bivalent/Poised TSS	NHDF-Ad	bronchial
45	chr8:132053600-132054200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr8:132053600-132054200	Bivalent Enhancer	Fetal Brain Male	brain
47	chr8:132053600-132054800	Enhancers	Liver	Liver
48	chr8:132053600-132054800	Active TSS	Psoas Muscle	Psoas
49	chr8:132053600-132054800	Flanking Bivalent TSS/Enh	HMEC	breast
50	chr8:132053600-132054800	Flanking Bivalent TSS/Enh	NH-A	brain

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