Variant report

Variant	rs60150898
Chromosome Location	chr8:11626861-11626862
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	chr8:11626821-11628069	ECC-1	luminal epithelium:	n/a	chr8:11627746-11627757 chr8:11627747-11627757
2	TAF1	chr8:11626823-11627366	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr8:11626807-11627571	MCF-7	breast:	n/a	n/a
4	POLR2A	chr8:11626743-11627682	H1-hESC	embryonic stem cell:	n/a	n/a
5	NFIC	chr8:11626842-11627458	GM12878	blood:	n/a	n/a
6	MAX	chr8:11626804-11628153	A549	lung:	n/a	chr8:11627746-11627757 chr8:11627747-11627757
7	E2F6	chr8:11626818-11627945	K562	blood:	n/a	chr8:11627307-11627317 chr8:11627091-11627100
8	POLR2A	chr8:11626583-11627698	GM18951	blood:	n/a	n/a
9	REST	chr8:11626748-11627488	A549	lung:	n/a	chr8:11627240-11627253 chr8:11627243-11627256 chr8:11627243-11627256 chr8:11627465-11627478
10	ZBTB7A	chr8:11626847-11627904	ECC-1	luminal epithelium:	n/a	n/a
11	MYC	chr8:11626797-11628137	A549	lung:	n/a	chr8:11627746-11627757 chr8:11627747-11627757
12	ZBTB7A	chr8:11626822-11627736	K562	blood:	n/a	n/a
13	ELF1	chr8:11626762-11627877	GM12878	blood:	n/a	n/a
14	POLR2A	chr8:11626739-11628204	U87	brain:	n/a	n/a
15	POLR2A	chr8:11626407-11627697	GM12892	blood:	n/a	n/a
16	TCF12	chr8:11626760-11628056	A549	lung:	n/a	n/a
17	POLR2A	chr8:11626810-11627696	MCF-7	breast:	n/a	n/a
18	MAZ	chr8:11626818-11628594	IMR90	lung:	n/a	chr8:11627746-11627757 chr8:11627747-11627757
19	POLR2A	chr8:11626768-11627538	GM12891	blood:	n/a	n/a
20	POLR2A	chr8:11626861-11627458	HepG2	liver:	n/a	n/a
21	POLR2A	chr8:11626773-11628040	PFSK-1	brain:	n/a	n/a
22	TCF12	chr8:11626845-11628021	ECC-1	luminal epithelium:	n/a	n/a
23	POLR2A	chr8:11626702-11628007	PFSK-1	brain:	n/a	n/a
24	POLR2A	chr8:11626833-11627425	PANC-1	pancreas:	n/a	n/a
25	YY1	chr8:11626776-11627590	HepG2	liver:	n/a	chr8:11627196-11627210
26	NRF1	chr8:11626759-11627537	SK-N-SH	brain:	n/a	chr8:11627090-11627101 chr8:11627092-11627101 chr8:11627090-11627104 chr8:11627090-11627101 chr8:11627087-11627101
27	MAX	chr8:11626802-11628076	ECC-1	luminal epithelium:	n/a	chr8:11627746-11627757 chr8:11627747-11627757
28	MXI1	chr8:11626416-11628775	IMR90	lung:	n/a	chr8:11627748-11627757 chr8:11627707-11627716
29	POLR2A	chr8:11626858-11627465	K562	blood:	n/a	n/a
30	TAF1	chr8:11626781-11627447	GM12878	blood:	n/a	n/a
31	POLR2A	chr8:11626745-11628160	U87	brain:	n/a	n/a
32	POLR2A	chr8:11626856-11627528	GM12878	blood:	n/a	n/a
33	TAF1	chr8:11626811-11627489	HepG2	liver:	n/a	n/a
34	REST	chr8:11626602-11627679	H1-neurons	neurons:	n/a	chr8:11627240-11627253 chr8:11627243-11627256 chr8:11627243-11627256 chr8:11627465-11627478
35	POLR2A	chr8:11626797-11627599	ECC-1	luminal epithelium:	n/a	n/a
36	POLR2A	chr8:11626726-11627945	K562	blood:	n/a	n/a
37	TAF1	chr8:11626856-11627319	H1-neurons	neurons:	n/a	n/a
38	TAF1	chr8:11626733-11627568	ECC-1	luminal epithelium:	n/a	n/a
39	POLR2A	chr8:11626800-11627435	HepG2	liver:	n/a	n/a
40	RUNX3	chr8:11626794-11628061	GM12878	blood:	n/a	n/a
41	POLR2A	chr8:11626755-11627758	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr8:11626661-11628048	SK-N-MC	brain:	n/a	n/a
43	FOSL2	chr8:11626828-11627509	HepG2	liver:	n/a	chr8:11627310-11627319
44	TAF1	chr8:11626856-11627200	GM12892	blood:	n/a	n/a
45	POLR2A	chr8:11626773-11627608	HUVEC	blood vessel:	n/a	n/a
46	PML	chr8:11626744-11628066	GM12878	blood:	n/a	n/a
47	SP1	chr8:11626833-11627594	A549	lung:	n/a	chr8:11627223-11627232 chr8:11626999-11627013 chr8:11627368-11627380 chr8:11627141-11627153 chr8:11627129-11627139 chr8:11627551-11627565 chr8:11627141-11627153 chr8:11627141-11627152 chr8:11627345-11627358
48	POLR2A	chr8:11626857-11627588	GM18505	blood:	n/a	n/a
49	POLR2A	chr8:11626733-11628038	GM19193	blood:	n/a	n/a
50	GABPA	chr8:11626859-11627572	K562	blood:	n/a	chr8:11627090-11627101 chr8:11627092-11627101 chr8:11627090-11627104 chr8:11627087-11627101

No.	Distal block	Cell Line	Cell type
1	chr8:11625966..11628578-chr8:11704558..11706433,2	MCF-7	breast:
2	chr8:11625866..11628884-chr8:11724599..11727626,3	MCF-7	breast:
3	chr8:11625684..11627765-chr8:11645905..11648269,2	K562	blood:
4	chr8:11625747..11629309-chr8:11658765..11661345,4	K562	blood:
5	chr8:11625432..11628777-chr8:11664764..11667821,4	MCF-7	breast:
6	chr8:11625967..11628744-chr8:11645697..11648212,2	MCF-7	breast:
7	chr8:11626596..11628658-chr8:11659514..11662088,3	K562	blood:
8	chr8:11624784..11628111-chr8:11660073..11663416,4	MCF-7	breast:

Variant related genes	Relation type
NEIL2	TF binding region
ENSG00000079459	Chromatin interaction
ENSG00000255046	Chromatin interaction
ENSG00000164733	Chromatin interaction
ENSG00000227203	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs4841593	0.83[AFR][1000 genomes]
rs56296279	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7464968	1.00[AMR][1000 genomes]
rs8191671	1.00[AMR][1000 genomes]
rs8191685	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv1018978	chr8:11438267-11858466	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription 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
3	nsv917963	chr8:11540723-11751798	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1027378	chr8:11541739-11858466	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv1028229	chr8:11575762-11805961	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv539475	chr8:11575762-11805961	Flanking Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv428514	chr8:11580381-11765706	Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv916483	chr8:11590294-11672038	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv1034014	chr8:11602337-11858466	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv890360	chr8:11619163-11639991	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv1023803	chr8:11623570-11721655	Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	nsv539476	chr8:11623570-11721655	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
13	nsv890361	chr8:11625808-11755513	Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
14	nsv890362	chr8:11625808-11771089	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11623800-11627400	Weak transcription	Fetal Heart	heart
2	chr8:11625600-11627000	Flanking Active TSS	Primary B cells from peripheral blood	blood
3	chr8:11625800-11627000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr8:11626000-11627000	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr8:11626000-11627000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr8:11626000-11627000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
7	chr8:11626000-11627000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
8	chr8:11626000-11628200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr8:11626000-11628200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr8:11626000-11628200	Active TSS	Lung	lung
11	chr8:11626200-11627600	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr8:11626400-11627000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
13	chr8:11626400-11627000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr8:11626400-11627000	Flanking Active TSS	Fetal Muscle Leg	muscle
15	chr8:11626400-11627000	Flanking Active TSS	Thymus	Thymus
16	chr8:11626400-11627000	Flanking Active TSS	HUVEC	blood vessel
17	chr8:11626400-11627400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr8:11626400-11627400	Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr8:11626400-11627600	Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr8:11626400-11627600	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr8:11626400-11627600	Active TSS	NHEK	skin
22	chr8:11626400-11627800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr8:11626400-11627800	Active TSS	Hela-S3	cervix
24	chr8:11626400-11628200	Active TSS	Rectal Smooth Muscle	rectum
25	chr8:11626400-11628200	Active TSS	HSMM	muscle
26	chr8:11626600-11627000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
27	chr8:11626600-11627000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
28	chr8:11626600-11627000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr8:11626600-11627000	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr8:11626600-11627000	Flanking Active TSS	Colonic Mucosa	Colon
31	chr8:11626600-11627000	Flanking Active TSS	Fetal Muscle Trunk	muscle
32	chr8:11626600-11627000	Flanking Active TSS	Fetal Thymus	thymus
33	chr8:11626600-11627000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
34	chr8:11626600-11627200	Weak transcription	Small Intestine	intestine
35	chr8:11626600-11627400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr8:11626600-11627400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr8:11626600-11627400	Active TSS	Brain Germinal Matrix	brain
38	chr8:11626600-11627400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
39	chr8:11626600-11627400	Active TSS	GM12878-XiMat	blood
40	chr8:11626600-11627600	Active TSS	Muscle Satellite Cultured Cells	--
41	chr8:11626600-11627600	Active TSS	Fetal Intestine Small	intestine
42	chr8:11626600-11627600	Active TSS	K562	blood
43	chr8:11626600-11627600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr8:11626600-11627600	Active TSS	NH-A	brain
45	chr8:11626600-11627800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr8:11626600-11627800	Active TSS	HUES64 Cell Line	embryonic stem cell
47	chr8:11626600-11627800	Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr8:11626600-11627800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr8:11626600-11627800	Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr8:11626600-11627800	Active TSS	Primary T cells from cord blood	blood

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