Variant report

Variant	rs13194698
Chromosome Location	chr6:31914673-31914674
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:31913398-31914808	HepG2	liver:	n/a	n/a
2	POLR2A	chr6:31913284-31915077	HepG2	liver:	n/a	n/a
3	POLR2A	chr6:31914588-31918238	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr6:31914529-31923123	HepG2	liver:	n/a	n/a
5	MAFK	chr6:31914382-31914695	HepG2	liver:	n/a	chr6:31914550-31914565
6	POLR2A	chr6:31913107-31918251	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr6:31914472-31914854	HepG2	liver:	n/a	n/a
8	POLR2A	chr6:31912538-31923721	HepG2	liver:	n/a	n/a
9	POLR2A	chr6:31914603-31914802	HepG2	liver:	n/a	n/a
10	MAFK	chr6:31914316-31914734	HepG2	liver:	n/a	chr6:31914550-31914565
11	POLR2A	chr6:31914643-31919725	K562	blood:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:31828952..31831553-chr6:31912715..31914981,2	K562	blood:
2	chr6:31865534..31868319-chr6:31914405..31916716,2	MCF-7	breast:
3	chr6:31704899..31707815-chr6:31914437..31917102,2	MCF-7	breast:
4	chr6:31862879..31872535-chr6:31911667..31928766,47	MCF-7	breast:
5	chr6:31854115..31856826-chr6:31913867..31915528,2	MCF-7	breast:
6	chr6:31893919..31897907-chr6:31913762..31916831,4	MCF-7	breast:
7	chr6:31792517..31796452-chr6:31911867..31914768,3	MCF-7	breast:
8	chr6:31802757..31805057-chr6:31913533..31915744,2	MCF-7	breast:
9	chr6:31868502..31871158-chr6:31911705..31915017,4	MCF-7	breast:
10	chr6:31887457..31890235-chr6:31914279..31916150,2	MCF-7	breast:
11	chr6:31912743..31916758-chr6:31944927..31949257,3	K562	blood:
12	chr6:31701400..31704942-chr6:31911756..31915207,3	MCF-7	breast:

No data

Variant related genes	Relation type
CFB	TF binding region
ENSG00000204371	Chromatin interaction
ENSG00000204387	Chromatin interaction
ENSG00000204410	Chromatin interaction
ENSG00000166278	Chromatin interaction
ENSG00000204388	Chromatin interaction
ENSG00000244255	Chromatin interaction
ENSG00000204344	Chromatin interaction
ENSG00000204366	Chromatin interaction
ENSG00000213719	Chromatin interaction
ENSG00000255152	Chromatin interaction
ENSG00000201823	Chromatin interaction
ENSG00000201754	Chromatin interaction
ENSG00000204386	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11548074	0.81[EUR][1000 genomes]
rs13192107	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17201319	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34287387	0.90[EUR][1000 genomes]
rs35092817	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35421785	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36097221	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62404825	1.00[AFR][1000 genomes]
rs71563386	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71565312	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv601610	chr6:31280101-31960770	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	370 gene(s)	inside rSNPs	diseases
2	nsv601628	chr6:31280327-31990098	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
3	nsv601629	chr6:31280327-31996185	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
4	nsv601630	chr6:31280327-32011317	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	378 gene(s)	inside rSNPs	diseases
5	nsv601631	chr6:31280327-32017540	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	378 gene(s)	inside rSNPs	diseases
6	nsv1023939	chr6:31325961-32026747	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	372 gene(s)	inside rSNPs	diseases
7	nsv538188	chr6:31325961-32026747	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	372 gene(s)	inside rSNPs	diseases
8	nsv1033154	chr6:31550614-32009410	Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	326 gene(s)	inside rSNPs	diseases
9	nsv1017945	chr6:31609641-32481240	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
10	nsv601950	chr6:31785438-32492308	Enhancers Bivalent Enhancer Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	197 gene(s)	inside rSNPs	diseases
11	nsv601951	chr6:31785438-32496748	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	197 gene(s)	inside rSNPs	diseases
12	nsv601955	chr6:31785453-32484368	Genic enhancers Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
13	nsv601956	chr6:31785453-32492308	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	197 gene(s)	inside rSNPs	diseases
14	nsv601961	chr6:31868322-32484368	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
15	nsv427751	chr6:31871512-32092843	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
16	nsv428141	chr6:31871512-32092843	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
17	esv2758043	chr6:31871512-32209113	Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
18	esv2759415	chr6:31871512-32209113	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
19	nsv830628	chr6:31887554-31947600	Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	69 gene(s)	inside rSNPs	diseases
20	nsv933250	chr6:31905060-32008005	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
21	nsv934279	chr6:31905060-32013902	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
22	nsv884512	chr6:31908470-31933161	Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31908200-31918600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr6:31908800-31919400	Weak transcription	Ovary	ovary
3	chr6:31909200-31918800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr6:31912600-31914800	Enhancers	Fetal Thymus	thymus
5	chr6:31912600-31915200	Enhancers	Esophagus	oesophagus
6	chr6:31912600-31915200	Flanking Active TSS	Hela-S3	cervix
7	chr6:31913000-31918600	Weak transcription	Brain Hippocampus Middle	brain
8	chr6:31913200-31920800	Weak transcription	Small Intestine	intestine
9	chr6:31913400-31914800	Active TSS	Liver	Liver
10	chr6:31913400-31914800	Active TSS	Brain Substantia Nigra	brain
11	chr6:31913600-31917800	Weak transcription	A549	lung
12	chr6:31913600-31918600	Weak transcription	Brain Angular Gyrus	brain
13	chr6:31913600-31919000	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr6:31913800-31914800	Flanking Active TSS	Duodenum Mucosa	Duodenum
15	chr6:31913800-31914800	Flanking Bivalent TSS/Enh	HepG2	liver
16	chr6:31913800-31915400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr6:31913800-31918800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr6:31913800-31919400	Weak transcription	GM12878-XiMat	blood
19	chr6:31914000-31918400	Weak transcription	Brain Germinal Matrix	brain
20	chr6:31914200-31914800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:31914200-31914800	Enhancers	Fetal Intestine Large	intestine
22	chr6:31914200-31915400	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr6:31914200-31916400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr6:31914200-31916600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr6:31914200-31916600	Weak transcription	Lung	lung
26	chr6:31914200-31916600	Weak transcription	HSMM	muscle
27	chr6:31914200-31916600	Weak transcription	NHEK	skin
28	chr6:31914200-31918000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr6:31914200-31918000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr6:31914200-31918400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr6:31914200-31918400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr6:31914200-31918600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr6:31914200-31919000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr6:31914200-31919000	Weak transcription	Rectal Smooth Muscle	rectum
35	chr6:31914200-31919200	Weak transcription	Aorta	Aorta
36	chr6:31914200-31919200	Weak transcription	HUVEC	blood vessel
37	chr6:31914200-31919400	Weak transcription	Left Ventricle	heart
38	chr6:31914200-31919600	Weak transcription	HSMMtube	muscle
39	chr6:31914200-31926000	Weak transcription	Right Atrium	heart
40	chr6:31914400-31914800	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr6:31914400-31914800	Flanking Active TSS	Gastric	stomach
42	chr6:31914400-31915400	Enhancers	Fetal Intestine Small	intestine
43	chr6:31914400-31916200	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr6:31914400-31916400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr6:31914400-31916400	Weak transcription	Osteobl	bone
46	chr6:31914400-31916800	Enhancers	Pancreas	Pancrea
47	chr6:31914400-31917000	Weak transcription	Spleen	Spleen
48	chr6:31914400-31917400	Enhancers	Placenta	Placenta
49	chr6:31914400-31918000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr6:31914400-31918200	Weak transcription	Adipose Nuclei	Adipose

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