Variant report

Variant	rs199939348
Chromosome Location	chr8:90737912-90737913
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	RELA	chr8:90737869-90738404	GM19099	blood:	n/a	n/a
2	PML	chr8:90737912-90738662	GM12878	blood:	n/a	n/a
3	FOXM1	chr8:90737827-90738535	GM12878	blood:	n/a	n/a
4	NFIC	chr8:90737864-90738868	GM12878	blood:	n/a	n/a
5	BCLAF1	chr8:90737861-90738551	GM12878	blood:	n/a	chr8:90738122-90738131 chr8:90737903-90737912
6	CTCF	chr8:90737888-90738548	MCF-7	breast:	n/a	n/a
7	SMC3	chr8:90737903-90738685	SK-N-SH	brain:	n/a	n/a
8	RAD21	chr8:90737821-90738762	SK-N-SH	brain:	n/a	n/a
9	MTA3	chr8:90737883-90738934	GM12878	blood:	n/a	n/a
10	NFIC	chr8:90737556-90739638	GM12878	blood:	n/a	n/a
11	RAD21	chr8:90737844-90738628	HCT-116	colon:	n/a	n/a
12	CTCF	chr8:90737862-90738656	HCT-116	colon:	n/a	n/a
13	SPI1	chr8:90737745-90738496	GM12878	blood:	n/a	chr8:90737903-90737912 chr8:90738124-90738133 chr8:90738122-90738135 chr8:90738123-90738136
14	RAD21	chr8:90737882-90738680	HCT-116	colon:	n/a	n/a
15	SPI1	chr8:90737576-90738369	HL-60	blood:	n/a	chr8:90737903-90737912 chr8:90738124-90738133 chr8:90738122-90738135 chr8:90737710-90737723 chr8:90737713-90737722 chr8:90738123-90738136
16	CUX1	chr8:90737887-90738385	K562	blood:	n/a	n/a
17	TCF12	chr8:90737851-90738713	SK-N-SH	brain:	n/a	chr8:90738410-90738420 chr8:90738409-90738416
18	CTCF	chr8:90737742-90738610	A549	lung:	n/a	n/a
19	CEBPB	chr8:90737876-90738616	GM12878	blood:	n/a	n/a
20	RAD21	chr8:90737909-90738502	A549	lung:	n/a	n/a
21	ELK1	chr8:90737777-90738464	GM12878	blood:	n/a	n/a
22	CREB1	chr8:90737867-90738662	GM12878	blood:	n/a	n/a
23	RUNX3	chr8:90737905-90738884	GM12878	blood:	n/a	n/a

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	chr8:90736815..90743993-chr8:90765696..90773918,18	MCF-7	breast:
4	chr8:90732834..90736227-chr8:90736670..90741646,5	MCF-7	breast:
5	chr8:90737773..90739680-chr8:90867503..90870182,2	MCF-7	breast:
6	chr8:90714137..90717056-chr8:90737564..90740115,2	K562	blood:
7	chr8:90735002..90740593-chr8:90994599..90998168,11	MCF-7	breast:
8	chr8:90737113..90738638-chr8:90994961..90997124,2	K562	blood:
9	chr8:90734885..90744209-chr8:90767977..90774247,14	MCF-7	breast:
10	chr8:90735826..90740064-chr8:90995306..90998250,3	MCF-7	breast:
11	chr8:90737440..90740963-chr8:90912985..90916304,5	MCF-7	breast:
12	chr8:90737819..90738602-chr8:90996411..90997232,4	MCF-7	breast:

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

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 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	nsv391440	chr8:90737910-90737915	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
12	nsv369941	chr8:90737912-90737917	Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90713200-90741200	Weak transcription	Left Ventricle	heart
2	chr8:90713400-90738000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr8:90713600-90756200	Weak transcription	Pancreas	Pancrea
4	chr8:90714200-90741400	Weak transcription	Right Ventricle	heart
5	chr8:90714400-90741000	Weak transcription	Gastric	stomach
6	chr8:90715400-90741200	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr8:90716800-90738000	Weak transcription	Brain Hippocampus Middle	brain
8	chr8:90717200-90741000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr8:90717400-90738000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr8:90717800-90738000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr8:90717800-90738000	Weak transcription	NH-A	brain
12	chr8:90717800-90747800	Weak transcription	Ovary	ovary
13	chr8:90720800-90742400	Weak transcription	Fetal Lung	lung
14	chr8:90721000-90740000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr8:90721400-90740400	Weak transcription	Fetal Intestine Large	intestine
16	chr8:90721800-90738400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr8:90725200-90740400	Weak transcription	Small Intestine	intestine
18	chr8:90726600-90741400	Weak transcription	Esophagus	oesophagus
19	chr8:90726800-90738200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr8:90728400-90738000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr8:90731000-90738200	Weak transcription	K562	blood
22	chr8:90731000-90738400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:90731800-90738000	Weak transcription	NHLF	lung
24	chr8:90731800-90738600	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr8:90732000-90738200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr8:90732200-90738200	Weak transcription	HSMMtube	muscle
27	chr8:90732200-90738400	Weak transcription	HSMM	muscle
28	chr8:90733200-90738000	Weak transcription	Rectal Smooth Muscle	rectum
29	chr8:90733600-90741200	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr8:90733800-90738000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr8:90733800-90738000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr8:90734000-90738000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr8:90734000-90741200	Weak transcription	Liver	Liver
34	chr8:90734200-90738200	Weak transcription	Aorta	Aorta
35	chr8:90734200-90738200	Weak transcription	Brain Anterior Caudate	brain
36	chr8:90734200-90739800	Weak transcription	Fetal Stomach	stomach
37	chr8:90734200-90741200	Weak transcription	Placenta	Placenta
38	chr8:90734400-90738400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr8:90734400-90740800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr8:90735200-90738400	Enhancers	GM12878-XiMat	blood
41	chr8:90735400-90738000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr8:90735400-90741200	Weak transcription	Primary T cells from cord blood	blood
43	chr8:90735600-90738000	Weak transcription	Brain Angular Gyrus	brain
44	chr8:90735800-90740800	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr8:90736000-90740800	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr8:90736200-90739400	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr8:90736200-90740000	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr8:90736400-90738400	Enhancers	H1 Cell Line	embryonic stem cell
49	chr8:90736400-90739200	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr8:90736400-90739400	Enhancers	HUES6 Cell Line	embryonic stem cell

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