Variant report

Variant	rs6900113
Chromosome Location	chr6:30620232-30620233
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:30619793-30620454	GM12878	blood:	n/a	n/a
2	POLR2A	chr6:30619714-30620834	PFSK-1	brain:	n/a	n/a
3	POLR2A	chr6:30620044-30620864	K562	blood:	n/a	n/a
4	POLR2A	chr6:30620206-30620824	K562	blood:	n/a	n/a
5	POLR2A	chr6:30619442-30620668	PANC-1	pancreas:	n/a	n/a
6	POLR2A	chr6:30620183-30620619	HepG2	liver:	n/a	n/a
7	POLR2A	chr6:30620058-30622071	K562	blood:	n/a	n/a
8	POLR2A	chr6:30620164-30620851	SK-N-MC	brain:	n/a	n/a
9	POLR2A	chr6:30619246-30620771	HepG2	liver:	n/a	n/a
10	POLR2A	chr6:30619438-30620868	HepG2	liver:	n/a	n/a
11	POLR2A	chr6:30620207-30620374	GM12891	blood:	n/a	n/a
12	PML	chr6:30620065-30620344	K562	blood:	n/a	n/a
13	POLR2A	chr6:30619857-30620800	HepG2	liver:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30619664..30622989-chr6:30637917..30640970,3	MCF-7	breast:
2	chr6:30618982..30621616-chr6:30685641..30687439,2	K562	blood:
3	chr6:30593119..30595589-chr6:30619964..30621770,2	MCF-7	breast:

No data

Variant related genes	Relation type
C6orf136	TF binding region
ENSG00000137337	Chromatin interaction
ENSG00000204560	Chromatin interaction
ENSG00000137343	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1109146	0.83[AFR][1000 genomes]
rs16867852	0.83[AFR][1000 genomes]
rs16897781	0.83[AFR][1000 genomes]
rs16897791	0.83[AFR][1000 genomes]
rs2075015	0.81[AFR][1000 genomes]
rs2269702	0.81[AFR][1000 genomes]
rs2269707	0.83[AFR][1000 genomes]
rs2285321	0.83[AFR][1000 genomes]
rs28986465	0.81[AFR][1000 genomes]
rs61486053	0.83[AFR][1000 genomes]
rs61733213	0.87[AFR][1000 genomes]
rs6929698	0.81[AFR][1000 genomes]
rs6937357	0.83[AFR][1000 genomes]
rs7762626	0.81[AFR][1000 genomes]
rs7773711	0.89[AFR][1000 genomes]
rs9295902	0.83[AFR][1000 genomes]
rs9295904	0.83[AFR][1000 genomes]
rs9295905	0.81[AFR][1000 genomes]
rs9295908	0.81[AFR][1000 genomes]
rs9295909	0.81[AFR][1000 genomes]
rs9461620	0.83[AFR][1000 genomes]
rs9461622	0.83[AFR][1000 genomes]
rs9461623	0.81[AFR][1000 genomes]
rs9468803	0.83[AFR][1000 genomes]
rs9468805	0.83[AFR][1000 genomes]
rs9468812	0.87[AFR][1000 genomes]
rs9468813	0.81[AFR][1000 genomes]
rs9501338	0.81[AFR][1000 genomes]
rs9501483	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025667	chr6:30292845-30638066	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	825 gene(s)	inside rSNPs	diseases
2	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription 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	1030 gene(s)	inside rSNPs	diseases
4	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
5	esv3430377	chr6:30443802-30814426	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS 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	967 gene(s)	inside rSNPs	diseases
6	nsv884086	chr6:30462084-30672757	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	798 gene(s)	inside rSNPs	diseases
7	nsv830626	chr6:30558064-30732905	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	406 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	chr6:30616000-30627000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:30616200-30620600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr6:30616200-30620600	Weak transcription	GM12878-XiMat	blood
4	chr6:30616200-30621000	Weak transcription	HUVEC	blood vessel
5	chr6:30616200-30622000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr6:30616200-30622400	Weak transcription	NHDF-Ad	bronchial
7	chr6:30616200-30627600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr6:30616200-30627600	Weak transcription	Fetal Brain Male	brain
9	chr6:30616200-30630800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr6:30616200-30639800	Weak transcription	Right Atrium	heart
11	chr6:30616400-30620600	Weak transcription	Fetal Kidney	kidney
12	chr6:30616400-30622400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr6:30617200-30621000	Strong transcription	A549	lung
14	chr6:30617200-30628400	Strong transcription	Primary hematopoietic stem cells	blood
15	chr6:30617200-30636200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr6:30617200-30636400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr6:30617200-30636600	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr6:30617200-30638600	Strong transcription	Fetal Stomach	stomach
19	chr6:30617200-30638600	Strong transcription	Skeletal Muscle Male	skeletal muscle
20	chr6:30617200-30638800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:30617200-30638800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr6:30617200-30639000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr6:30617200-30639000	Strong transcription	Fetal Intestine Small	intestine
24	chr6:30617200-30639000	Strong transcription	Thymus	Thymus
25	chr6:30617400-30623000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr6:30617400-30623400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr6:30617400-30630800	Strong transcription	Right Ventricle	heart
28	chr6:30617400-30634200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr6:30617400-30636000	Strong transcription	Colon Smooth Muscle	Colon
30	chr6:30617400-30636400	Strong transcription	Skeletal Muscle Female	skeletal muscle
31	chr6:30617400-30636600	Strong transcription	Rectal Smooth Muscle	rectum
32	chr6:30617400-30638400	Strong transcription	Stomach Smooth Muscle	stomach
33	chr6:30617400-30638600	Strong transcription	Fetal Thymus	thymus
34	chr6:30617400-30638800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr6:30617400-30639000	Strong transcription	Duodenum Mucosa	Duodenum
36	chr6:30617400-30639000	Strong transcription	Fetal Muscle Trunk	muscle
37	chr6:30617400-30639200	Strong transcription	Fetal Muscle Leg	muscle
38	chr6:30617600-30622800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr6:30617600-30622800	Strong transcription	Liver	Liver
40	chr6:30617600-30633800	Strong transcription	Left Ventricle	heart
41	chr6:30617600-30634200	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr6:30617600-30638800	Strong transcription	Primary T cells from cord blood	blood
43	chr6:30617600-30638800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr6:30617600-30639000	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr6:30617600-30639000	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr6:30618000-30620400	Weak transcription	Psoas Muscle	Psoas
47	chr6:30618000-30638600	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr6:30618200-30634600	Strong transcription	Brain Anterior Caudate	brain
49	chr6:30618400-30623200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr6:30618400-30638000	Strong transcription	Fetal Brain Female	brain

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