Variant report

Variant	rs140169479
Chromosome Location	chr8:90738477-90738478
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:68)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:68 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXM1	chr8:90737946-90738607	GM12878	blood:	n/a	n/a
2	NFYB	chr8:90738246-90738799	GM12878	blood:	n/a	n/a
3	RAD21	chr8:90737967-90738488	SK-N-SH_RA	brain:	n/a	n/a
4	RAD21	chr8:90737980-90738494	ECC-1	luminal epithelium:	n/a	n/a
5	CTCF	chr8:90737930-90738479	MCF-7	breast:	n/a	n/a
6	MTA3	chr8:90737943-90738557	GM12878	blood:	n/a	n/a
7	PML	chr8:90737912-90738662	GM12878	blood:	n/a	n/a
8	FOXM1	chr8:90737827-90738535	GM12878	blood:	n/a	n/a
9	RUNX3	chr8:90737952-90738522	GM12878	blood:	n/a	n/a
10	NFIC	chr8:90737864-90738868	GM12878	blood:	n/a	n/a
11	NFATC1	chr8:90737929-90738484	GM12878	blood:	n/a	n/a
12	BCLAF1	chr8:90737861-90738551	GM12878	blood:	n/a	chr8:90738122-90738131 chr8:90737903-90737912
13	ATF2	chr8:90737929-90738551	GM12878	blood:	n/a	n/a
14	CTCF	chr8:90737888-90738548	MCF-7	breast:	n/a	n/a
15	SMC3	chr8:90737903-90738685	SK-N-SH	brain:	n/a	n/a
16	BHLHE40	chr8:90738028-90738733	GM12878	blood:	n/a	n/a
17	GATA3	chr8:90737969-90739350	SK-N-SH	brain:	n/a	n/a
18	RAD21	chr8:90738014-90738492	H1-hESC	embryonic stem cell:	n/a	n/a
19	RAD21	chr8:90737821-90738762	SK-N-SH	brain:	n/a	n/a
20	CREB1	chr8:90738033-90738488	GM12878	blood:	n/a	n/a
21	MTA3	chr8:90737883-90738934	GM12878	blood:	n/a	n/a
22	SP1	chr8:90737980-90738478	GM12878	blood:	n/a	n/a
23	NFIC	chr8:90737556-90739638	GM12878	blood:	n/a	n/a
24	SMC3	chr8:90737948-90738701	GM12878	blood:	n/a	n/a
25	RAD21	chr8:90738020-90738514	IMR90	lung:	n/a	n/a
26	FOS	chr8:90738145-90738526	MCF10A-Er-Src	breast:	n/a	n/a
27	RAD21	chr8:90737844-90738628	HCT-116	colon:	n/a	n/a
28	CTCF	chr8:90737862-90738656	HCT-116	colon:	n/a	n/a
29	BATF	chr8:90738003-90738500	GM12878	blood:	n/a	chr8:90738291-90738302 chr8:90738292-90738302
30	TBL1XR1	chr8:90737940-90738688	GM12878	blood:	n/a	n/a
31	MEF2A	chr8:90737972-90738557	GM12878	blood:	n/a	chr8:90738341-90738356 chr8:90738343-90738354
32	STAT5A	chr8:90738044-90738495	GM12878	blood:	n/a	n/a
33	POLR2A	chr8:90738093-90738555	K562	blood:	n/a	n/a
34	EBF1	chr8:90737926-90739729	GM12878	blood:	n/a	n/a
35	NFIC	chr8:90737944-90738586	SK-N-SH	brain:	n/a	n/a
36	SPI1	chr8:90737745-90738496	GM12878	blood:	n/a	chr8:90737903-90737912 chr8:90738124-90738133 chr8:90738122-90738135 chr8:90738123-90738136
37	CTCF	chr8:90737944-90738615	SK-N-SH	brain:	n/a	n/a
38	RAD21	chr8:90737882-90738680	HCT-116	colon:	n/a	n/a
39	MEF2A	chr8:90737937-90738489	GM12878	blood:	n/a	chr8:90738341-90738356 chr8:90738343-90738354
40	RELA	chr8:90737936-90738500	GM10847	blood:	n/a	n/a
41	CUX1	chr8:90738010-90738509	GM12878	blood:	n/a	n/a
42	GATA3	chr8:90737999-90738546	T-47D	breast:	n/a	n/a
43	TCF12	chr8:90737851-90738713	SK-N-SH	brain:	n/a	chr8:90738410-90738420 chr8:90738409-90738416
44	CTCF	chr8:90737742-90738610	A549	lung:	n/a	n/a
45	CHD2	chr8:90737963-90738782	GM12878	blood:	n/a	n/a
46	CEBPB	chr8:90737876-90738616	GM12878	blood:	n/a	n/a
47	FOS	chr8:90738058-90738550	MCF10A-Er-Src	breast:	n/a	n/a
48	PBX3	chr8:90737972-90738556	SK-N-SH	brain:	n/a	n/a
49	BCL3	chr8:90737989-90738504	GM12878	blood:	n/a	chr8:90738122-90738131
50	PBX3	chr8:90737997-90738616	SK-N-SH	brain:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:90737750..90738653-chr8:90995891..90997375,11	MCF-7	breast:
2	chr8:90737820..90738670-chr8:90996630..90997353,4	K562	blood:
3	chr8:90738336..90739847-chr8:90952483..90954708,2	MCF-7	breast:
4	chr8:90736815..90743993-chr8:90765696..90773918,18	MCF-7	breast:
5	chr8:90732925..90737686-chr8:90738407..90742912,6	K562	blood:
6	chr8:90732834..90736227-chr8:90736670..90741646,5	MCF-7	breast:
7	chr8:90737986..90738708-chr8:90849422..90850036,2	MCF-7	breast:
8	chr8:90737773..90739680-chr8:90867503..90870182,2	MCF-7	breast:
9	chr8:90737934..90739593-chr8:90739830..90742161,2	K562	blood:
10	chr8:90714137..90717056-chr8:90737564..90740115,2	K562	blood:
11	chr8:90735002..90740593-chr8:90994599..90998168,11	MCF-7	breast:
12	chr8:90737113..90738638-chr8:90994961..90997124,2	K562	blood:
13	chr8:90734885..90744209-chr8:90767977..90774247,14	MCF-7	breast:
14	chr8:90735826..90740064-chr8:90995306..90998250,3	MCF-7	breast:
15	chr8:90737440..90740963-chr8:90912985..90916304,5	MCF-7	breast:
16	chr8:90737819..90738602-chr8:90996411..90997232,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000251136	TF binding region
ENSG00000104320	Chromatin interaction
ENSG00000251136	Chromatin interaction
ENSG00000164823	Chromatin interaction
ENSG00000104312	Chromatin interaction
ENSG00000207359	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831389	chr8:90575517-90753120	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv1031578	chr8:90670102-90757821	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv891180	chr8:90697810-90802491	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
4	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
5	nsv6294	chr8:90705780-90750101	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv934114	chr8:90720182-90999106	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
7	esv3479599	chr8:90736894-90741021	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	esv3479598	chr8:90736917-90741003	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	esv3479600	chr8:90736917-90741003	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv891181	chr8:90737258-90819998	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
11	esv2762759	chr8:90738200-90739480	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90713200-90741200	Weak transcription	Left Ventricle	heart
2	chr8:90713600-90756200	Weak transcription	Pancreas	Pancrea
3	chr8:90714200-90741400	Weak transcription	Right Ventricle	heart
4	chr8:90714400-90741000	Weak transcription	Gastric	stomach
5	chr8:90715400-90741200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr8:90717200-90741000	Weak transcription	Stomach Smooth Muscle	stomach
7	chr8:90717800-90747800	Weak transcription	Ovary	ovary
8	chr8:90720800-90742400	Weak transcription	Fetal Lung	lung
9	chr8:90721000-90740000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:90721400-90740400	Weak transcription	Fetal Intestine Large	intestine
11	chr8:90725200-90740400	Weak transcription	Small Intestine	intestine
12	chr8:90726600-90741400	Weak transcription	Esophagus	oesophagus
13	chr8:90731800-90738600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr8:90733600-90741200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr8:90734000-90741200	Weak transcription	Liver	Liver
16	chr8:90734200-90739800	Weak transcription	Fetal Stomach	stomach
17	chr8:90734200-90741200	Weak transcription	Placenta	Placenta
18	chr8:90734400-90740800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr8:90735400-90741200	Weak transcription	Primary T cells from cord blood	blood
20	chr8:90735800-90740800	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr8:90736000-90740800	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr8:90736200-90739400	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr8:90736200-90740000	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr8:90736400-90739200	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr8:90736400-90739400	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr8:90736400-90739400	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr8:90736400-90739600	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr8:90736800-90739000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr8:90737000-90740200	Weak transcription	Fetal Muscle Trunk	muscle
30	chr8:90737000-90741000	Weak transcription	Adipose Nuclei	Adipose
31	chr8:90737000-90741400	Weak transcription	Fetal Muscle Leg	muscle
32	chr8:90737200-90741400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr8:90737400-90738600	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr8:90737600-90738600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr8:90737600-90738600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr8:90737600-90739200	Enhancers	A549	lung
37	chr8:90737600-90739600	Enhancers	HMEC	breast
38	chr8:90737800-90738600	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr8:90737800-90738600	Enhancers	Fetal Heart	heart
40	chr8:90737800-90738800	Enhancers	Primary B cells from peripheral blood	blood
41	chr8:90737800-90739000	Enhancers	Hela-S3	cervix
42	chr8:90737800-90739400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr8:90737800-90739400	Enhancers	Primary B cells from cord blood	blood
44	chr8:90737800-90739400	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr8:90737800-90739600	Enhancers	Osteobl	bone
46	chr8:90737800-90740000	Enhancers	NHDF-Ad	bronchial
47	chr8:90737800-90740200	Enhancers	Muscle Satellite Cultured Cells	--
48	chr8:90737800-90740200	Enhancers	NHEK	skin
49	chr8:90737800-90741000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr8:90738000-90738600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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