Variant report

Variant	rs74659931
Chromosome Location	chr8:87354643-87354644
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	REST	chr8:87354640-87354834	SK-N-SH	brain:	n/a	n/a
2	SIN3AK20	chr8:87353102-87355951	MCF-7	breast:	n/a	n/a
3	SP1	chr8:87354303-87354962	H1-hESC	embryonic stem cell:	n/a	chr8:87354651-87354660 chr8:87354656-87354677 chr8:87354651-87354661 chr8:87354626-87354638 chr8:87354938-87354952 chr8:87354650-87354661 chr8:87354627-87354637 chr8:87354627-87354641 chr8:87354651-87354660 chr8:87354628-87354637 chr8:87354626-87354638 chr8:87354651-87354665 chr8:87354627-87354636 chr8:87354650-87354662 chr8:87354626-87354637 chr8:87354652-87354661 chr8:87354942-87354951 chr8:87354650-87354662 chr8:87354942-87354952 chr8:87354627-87354636 chr8:87354651-87354661 chr8:87354627-87354637
4	WRNIP1	chr8:87354066-87354887	GM12878	blood:	n/a	n/a
5	POLR2A	chr8:87354633-87355468	A549	lung:	n/a	n/a
6	POLR2A	chr8:87354212-87355221	HEK293	kidney:	n/a	n/a
7	YY1	chr8:87354437-87354831	A549	lung:	n/a	n/a
8	FOXA1	chr8:87354208-87354902	T-47D	breast:	n/a	n/a
9	NFYA	chr8:87354480-87354865	Hela-S3	cervix:	n/a	n/a
10	MAZ	chr8:87354301-87355985	GM12878	blood:	n/a	n/a
11	GTF2F1	chr8:87354412-87354873	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr8:87354321-87355564	GM18951	blood:	n/a	n/a
13	CBX3	chr8:87354417-87354921	K562	blood:	n/a	n/a
14	NFYB	chr8:87354174-87354908	GM12878	blood:	n/a	chr8:87354428-87354438
15	TAF1	chr8:87354391-87354910	GM12878	blood:	n/a	n/a
16	RCOR1	chr8:87354395-87355204	HepG2	liver:	n/a	n/a
17	POLR2A	chr8:87353918-87355892	GM12891	blood:	n/a	n/a
18	MAFK	chr8:87354110-87354787	Hela-S3	cervix:	n/a	n/a
19	ELF1	chr8:87354434-87355490	GM12878	blood:	n/a	chr8:87355091-87355103
20	CHD2	chr8:87354482-87355124	K562	blood:	n/a	chr8:87354764-87354774
21	JUND	chr8:87354483-87354824	HepG2	liver:	n/a	chr8:87354704-87354718
22	MAX	chr8:87354143-87354998	SK-N-SH	brain:	n/a	n/a
23	TAF1	chr8:87354334-87354719	SK-N-SH	brain:	n/a	n/a
24	POLR2A	chr8:87354273-87355603	Hela-S3	cervix:	n/a	n/a
25	NFYA	chr8:87354322-87354729	GM12878	blood:	n/a	chr8:87354428-87354438
26	POLR2A	chr8:87354062-87355624	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr8:87354371-87354789	ECC-1	luminal epithelium:	n/a	n/a
28	CREB1	chr8:87354284-87355257	HepG2	liver:	n/a	n/a
29	POLR2A	chr8:87354377-87354929	HUVEC	blood vessel:	n/a	n/a
30	POLR2A	chr8:87354341-87355731	GM19099	blood:	n/a	n/a
31	MYBL2	chr8:87354161-87354781	HepG2	liver:	n/a	n/a
32	JUND	chr8:87354370-87354840	H1-hESC	embryonic stem cell:	n/a	chr8:87354704-87354718
33	TBP	chr8:87354382-87355633	H1-hESC	embryonic stem cell:	n/a	n/a
34	GABPA	chr8:87354486-87354915	K562	blood:	n/a	chr8:87354754-87354768 chr8:87354751-87354765 chr8:87354754-87354765
35	MAZ	chr8:87354513-87355619	HepG2	liver:	n/a	n/a
36	TCF12	chr8:87353865-87355022	A549	lung:	n/a	n/a
37	RFX5	chr8:87354354-87354770	H1-hESC	embryonic stem cell:	n/a	n/a
38	TAF1	chr8:87354458-87354869	PFSK-1	brain:	n/a	n/a
39	POLR2A	chr8:87354466-87355227	HL-60	blood:	n/a	n/a
40	YY1	chr8:87354348-87354922	SK-N-SH_RA	brain:	n/a	chr8:87354398-87354414
41	MAX	chr8:87354082-87355355	K562	blood:	n/a	n/a
42	BRCA1	chr8:87354593-87354810	GM12878	blood:	n/a	n/a
43	MYC	chr8:87354458-87355173	K562	blood:	n/a	n/a
44	REST	chr8:87354366-87354749	HepG2	liver:	n/a	n/a
45	TBP	chr8:87354159-87355075	HepG2	liver:	n/a	n/a
46	EGR1	chr8:87354457-87354897	H1-hESC	embryonic stem cell:	n/a	chr8:87354755-87354764
47	RFX5	chr8:87354424-87354861	K562	blood:	n/a	n/a
48	REST	chr8:87354375-87354681	A549	lung:	n/a	n/a
49	STAT3	chr8:87354172-87354766	MCF10A-Er-Src	breast:	n/a	chr8:87354652-87354664
50	ELK1	chr8:87354237-87354902	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:87341673..87343507-chr8:87352769..87354965,2	MCF-7	breast:
2	chr8:87329069..87335338-chr8:87352769..87359177,10	MCF-7	breast:
3	chr8:87211911..87212654-chr8:87354020..87354928,4	MCF-7	breast:
4	chr8:87212248..87212786-chr8:87354095..87354953,3	MCF-7	breast:
5	chr17:19280757..19281728-chr8:87354349..87354952,2	Hela-S3	cervix:
6	chr8:87353718..87358209-chr8:87386085..87389077,4	MCF-7	breast:
7	chr8:87165113..87167523-chr8:87354412..87356761,2	MCF-7	breast:
8	chr4:129732986..129733867-chr8:87354568..87355416,2	Hela-S3	cervix:
9	chr16:89574422..89575143-chr8:87354172..87354741,2	HCT-116	colon:
10	chr8:87212248..87212786-chr8:87354095..87354895,2	MCF-7	breast:

Variant related genes	Relation type
WWP1	TF binding region
ENSG00000166484	Chromatin interaction
ENSG00000108641	Chromatin interaction
ENSG00000164893	Chromatin interaction
ENSG00000197912	Chromatin interaction
ENSG00000123124	Chromatin interaction
ENSG00000253675	Chromatin interaction
ENSG00000077684	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529563	chr8:86467090-87381984	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv932023	chr8:86845979-87490694	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv429926	chr8:87161695-87429872	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv3349873	chr8:87185763-87603726	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	esv3360246	chr8:87200232-87419244	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv1017535	chr8:87261702-87367934	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	esv3441725	chr8:87342885-87359895	Weak transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	esv3358016	chr8:87353861-87356409	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	esv3353126	chr8:87353861-87356559	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87353600-87357400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:87353800-87356000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:87353800-87356000	Active TSS	Brain Hippocampus Middle	brain
4	chr8:87353800-87356000	Active TSS	Rectal Smooth Muscle	rectum
5	chr8:87353800-87356800	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr8:87353800-87357400	Active TSS	Stomach Smooth Muscle	stomach
7	chr8:87354000-87355400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr8:87354000-87355800	Active TSS	Brain Cingulate Gyrus	brain
9	chr8:87354000-87355800	Active TSS	Gastric	stomach
10	chr8:87354000-87355800	Active TSS	Pancreas	Pancrea
11	chr8:87354000-87356000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr8:87354000-87356000	Active TSS	Primary hematopoietic stem cells short term culture	blood
13	chr8:87354000-87356200	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr8:87354000-87356200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr8:87354000-87356200	Active TSS	Fetal Intestine Small	intestine
16	chr8:87354000-87356200	Active TSS	A549	lung
17	chr8:87354000-87356400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr8:87354000-87356400	Active TSS	HSMMtube	muscle
19	chr8:87354000-87356600	Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr8:87354000-87356600	Active TSS	Muscle Satellite Cultured Cells	--
21	chr8:87354000-87356600	Active TSS	HSMM	muscle
22	chr8:87354000-87356800	Active TSS	Colon Smooth Muscle	Colon
23	chr8:87354000-87356800	Active TSS	Fetal Brain Male	brain
24	chr8:87354000-87356800	Active TSS	Ovary	ovary
25	chr8:87354000-87357000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr8:87354000-87357000	Active TSS	GM12878-XiMat	blood
27	chr8:87354000-87357000	Active TSS	NHLF	lung
28	chr8:87354000-87357200	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr8:87354000-87357400	Active TSS	Fetal Intestine Large	intestine
30	chr8:87354000-87357600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr8:87354000-87357600	Active TSS	Right Atrium	heart
32	chr8:87354000-87358200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr8:87354200-87355200	Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr8:87354200-87355200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr8:87354200-87355200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
36	chr8:87354200-87355400	Active TSS	Primary neutrophils fromperipheralblood	blood
37	chr8:87354200-87355400	Active TSS	Primary B cells from cord blood	blood
38	chr8:87354200-87355600	Active TSS	Placenta Amnion	Placenta Amnion
39	chr8:87354200-87355800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr8:87354200-87355800	Active TSS	Adipose Nuclei	Adipose
41	chr8:87354200-87355800	Active TSS	Esophagus	oesophagus
42	chr8:87354200-87355800	Active TSS	Fetal Brain Female	brain
43	chr8:87354200-87355800	Active TSS	Lung	lung
44	chr8:87354200-87356000	Active TSS	Fetal Muscle Trunk	muscle
45	chr8:87354200-87356200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr8:87354200-87356600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
47	chr8:87354200-87356600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr8:87354200-87356600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
49	chr8:87354200-87356800	Active TSS	H9 Cell Line	embryonic stem cell
50	chr8:87354200-87356800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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