Variant report

Variant	rs4501558
Chromosome Location	chr8:100127194-100127195
allele	A/T
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	TAF1	chr8:100126965-100127275	PFSK-1	brain:	n/a	n/a
2	TCF7L2	chr8:100126737-100127527	HEK293	kidney:	n/a	n/a
3	KAP1	chr8:100126422-100127326	HEK293	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:100125265..100128114-chr8:100129986..100133353,3	K562	blood:

Variant related genes	Relation type
ENSG00000253532	TF binding region
ENSG00000253532	Chromatin interaction

Extended variants
information (count: 101 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs1011534	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1021415	0.94[EUR][1000 genomes]
rs10504988	0.91[EUR][1000 genomes]
rs11984531	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11985286	0.83[EUR][1000 genomes]
rs11985354	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11985377	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11986138	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11986449	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11986652	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.80[AFR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11987297	0.90[CHB][hapmap];0.86[ASN][1000 genomes]
rs11987308	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11987800	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11988364	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11989082	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11989095	0.93[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs11989805	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11990072	0.83[AFR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11990131	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11990603	0.80[AFR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11990888	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11991039	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11993237	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11994445	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11995021	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11995289	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11995381	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11995956	0.84[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs11996944	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11997079	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11997104	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11997495	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11998168	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11998193	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11998245	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1447244	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16897132	0.86[ASN][1000 genomes]
rs16897255	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16897302	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34064887	0.83[EUR][1000 genomes]
rs34930351	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35318343	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35755686	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4585717	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4734422	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4734423	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4734427	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4734428	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734429	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4735583	0.80[EUR][1000 genomes]
rs4735584	0.88[EUR][1000 genomes]
rs4735586	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4735587	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4735588	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4735590	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4735593	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4735594	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4735595	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4735596	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4735598	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4735605	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735606	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735608	0.90[AFR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4735611	0.87[AFR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4735612	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57231976	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6987040	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72672316	0.80[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72672328	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72672329	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72672337	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72672342	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72672349	0.88[ASN][1000 genomes]
rs72672353	0.88[ASN][1000 genomes]
rs72672355	0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs72672374	0.80[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs72672378	0.88[ASN][1000 genomes]
rs745721	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7814088	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7814120	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7814617	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7818738	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7819606	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7832595	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031089	chr8:99715785-100399935	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1023227	chr8:99902615-100290948	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv539692	chr8:99902615-100290948	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	esv1803951	chr8:99922754-100191783	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv531505	chr8:99932947-100464147	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv1020174	chr8:99978271-100168938	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv539693	chr8:99978271-100168938	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv891221	chr8:100016505-100156391	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	esv2758166	chr8:100028848-100196681	Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	esv2759632	chr8:100028848-100196681	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv524617	chr8:100032844-100717925	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
12	esv1844715	chr8:100046692-100191783	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv1020614	chr8:100046692-100594092	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
14	nsv932917	chr8:100074076-100193594	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
15	nsv1026442	chr8:100075230-100561451	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
16	nsv539694	chr8:100075230-100561451	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
17	nsv933781	chr8:100108619-100160324	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100091200-100137000	Weak transcription	Pancreas	Pancrea
2	chr8:100099200-100160200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr8:100099600-100131400	Weak transcription	Lung	lung
4	chr8:100099600-100161000	Weak transcription	Spleen	Spleen
5	chr8:100100000-100128200	Weak transcription	Fetal Stomach	stomach
6	chr8:100100400-100147400	Weak transcription	Brain Hippocampus Middle	brain
7	chr8:100100400-100161000	Weak transcription	Esophagus	oesophagus
8	chr8:100100800-100133400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr8:100101800-100160800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr8:100102200-100162600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr8:100102400-100129600	Weak transcription	Small Intestine	intestine
12	chr8:100103000-100151400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr8:100103400-100175600	Weak transcription	NHEK	skin
14	chr8:100103600-100160200	Weak transcription	A549	lung
15	chr8:100104000-100160200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr8:100104200-100141600	Weak transcription	Ovary	ovary
17	chr8:100104400-100133400	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr8:100104400-100155200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr8:100104400-100160800	Weak transcription	HSMMtube	muscle
20	chr8:100104600-100133400	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr8:100104600-100153200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr8:100104600-100160200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr8:100105000-100162800	Weak transcription	NHLF	lung
24	chr8:100107000-100162400	Weak transcription	Fetal Kidney	kidney
25	chr8:100107200-100160800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr8:100107600-100133400	Weak transcription	Brain Angular Gyrus	brain
27	chr8:100108200-100173000	Weak transcription	Hela-S3	cervix
28	chr8:100108600-100144400	Weak transcription	Primary hematopoietic stem cells	blood
29	chr8:100109200-100150200	Weak transcription	Aorta	Aorta
30	chr8:100109200-100197600	Weak transcription	HUVEC	blood vessel
31	chr8:100109600-100147200	Weak transcription	Placenta	Placenta
32	chr8:100109600-100198000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr8:100110000-100133400	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr8:100110600-100133000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr8:100110600-100133400	Weak transcription	GM12878-XiMat	blood
36	chr8:100110800-100133400	Weak transcription	Duodenum Mucosa	Duodenum
37	chr8:100111000-100133400	Weak transcription	HSMM	muscle
38	chr8:100112200-100147200	Weak transcription	NHDF-Ad	bronchial
39	chr8:100113200-100137000	Weak transcription	Fetal Heart	heart
40	chr8:100114600-100161000	Weak transcription	HepG2	liver
41	chr8:100115600-100132800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr8:100116200-100131600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr8:100116200-100133400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr8:100116200-100133400	Weak transcription	Osteobl	bone
45	chr8:100116400-100128200	Weak transcription	Fetal Intestine Small	intestine
46	chr8:100116400-100133200	Weak transcription	Stomach Smooth Muscle	stomach
47	chr8:100116400-100133400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr8:100116400-100133400	Weak transcription	Fetal Thymus	thymus
49	chr8:100116400-100133400	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr8:100116400-100133600	Weak transcription	Thymus	Thymus

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