Variant report

Variant	rs6997843
Chromosome Location	chr8:125485027-125485028
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAL1	chr8:125484503-125485028	K562	blood:	n/a	n/a
2	ZNF384	chr8:125484632-125485114	K562	blood:	n/a	n/a
3	IRF1	chr8:125484564-125487209	K562	blood:	n/a	chr8:125486200-125486214 chr8:125487107-125487121 chr8:125484776-125484797 chr8:125487110-125487120
4	NR2F2	chr8:125484398-125485074	K562	blood:	n/a	n/a
5	TEAD4	chr8:125484335-125485086	K562	blood:	n/a	n/a
6	GATA1	chr8:125484390-125485074	PBDE	blood:	n/a	n/a
7	POLR2A	chr8:125478436-125489342	K562	blood:	n/a	n/a
8	IRF1	chr8:125484500-125487223	K562	blood:	n/a	chr8:125486200-125486214 chr8:125487107-125487121 chr8:125484776-125484797 chr8:125487110-125487120

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125482386..125490832-chr8:125532319..125553620,55	MCF-7	breast:
2	chr8:125459763..125466594-chr8:125480347..125488760,16	K562	blood:
3	chr8:125484053..125491713-chr8:125548138..125554442,21	K562	blood:
4	chr8:125482929..125485167-chr8:125485266..125487071,3	K562	blood:
5	chr8:125484651..125489587-chr8:125535041..125543731,11	K562	blood:
6	chr8:125459763..125466513-chr8:125482159..125488968,22	K562	blood:
7	chr8:125483604..125491110-chr8:125548591..125554086,23	K562	blood:
8	chr8:124558050..124560805-chr8:125484658..125486261,2	MCF-7	breast:
9	chr8:125484977..125488762-chr8:125516872..125524765,8	MCF-7	breast:
10	chr8:125484436..125485979-chr8:125524895..125526411,2	MCF-7	breast:
11	chr8:125484651..125486969-chr8:125535041..125537083,3	K562	blood:
12	chr8:125484298..125489708-chr8:125549185..125553061,9	MCF-7	breast:
13	chr8:125458285..125469406-chr8:125482519..125490004,41	MCF-7	breast:
14	chr1:11969658..11970500-chr8:125484907..125485513,2	NB4	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TATDN1-1	chr8:125484548-125487007	NONHSAT128586

No data

Variant related genes	Relation type
RNF139	TF binding region
ENSG00000147684	Chromatin interaction
ENSG00000245149	Chromatin interaction
ENSG00000201801	Chromatin interaction
ENSG00000183665	Chromatin interaction
ENSG00000170881	Chromatin interaction
ENSG00000147687	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1128757	1.00[ASW][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16899658	1.00[EUR][1000 genomes]
rs3924459	1.00[ASW][hapmap];0.98[LWK][hapmap];0.94[MKK][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4077330	1.00[MEX][hapmap]
rs4262309	1.00[MEX][hapmap]
rs56946240	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6470246	1.00[ASW][hapmap];0.98[LWK][hapmap];0.97[MKK][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6997810	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs73340053	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73340071	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7820232	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7833362	1.00[TSI][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531508	chr8:125390194-125587953	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv891430	chr8:125431030-125485027	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv1017848	chr8:125432689-125489052	Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
4	nsv891431	chr8:125437811-125485027	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription 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
5	nsv891432	chr8:125438093-125485027	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv891433	chr8:125438093-125498547	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125464600-125485200	Weak transcription	Colonic Mucosa	Colon
2	chr8:125464600-125485800	Weak transcription	Esophagus	oesophagus
3	chr8:125464600-125486000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:125464800-125485400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr8:125465000-125485400	Weak transcription	Gastric	stomach
6	chr8:125465600-125485200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:125466000-125485400	Weak transcription	Lung	lung
8	chr8:125467200-125485400	Weak transcription	Left Ventricle	heart
9	chr8:125468400-125485200	Weak transcription	Brain Substantia Nigra	brain
10	chr8:125473400-125485200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr8:125477600-125485800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr8:125478600-125486000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:125482800-125485200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr8:125482800-125485200	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr8:125482800-125485200	Enhancers	Colon Smooth Muscle	Colon
16	chr8:125483000-125485200	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr8:125483000-125485200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr8:125483000-125485200	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr8:125483000-125485200	Enhancers	Liver	Liver
20	chr8:125483000-125485200	Enhancers	Fetal Brain Male	brain
21	chr8:125483000-125485400	Enhancers	Small Intestine	intestine
22	chr8:125483200-125485200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr8:125483400-125485200	Enhancers	Adipose Nuclei	Adipose
24	chr8:125483400-125485200	Enhancers	Fetal Heart	heart
25	chr8:125483400-125485400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr8:125483600-125485200	Enhancers	Brain Cingulate Gyrus	brain
27	chr8:125483600-125485400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr8:125483600-125485600	Enhancers	Primary B cells from peripheral blood	blood
29	chr8:125483800-125485200	Enhancers	Primary T cells from cord blood	blood
30	chr8:125483800-125485200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr8:125483800-125485400	Enhancers	Primary T cells fromperipheralblood	blood
32	chr8:125483800-125485400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr8:125483800-125485400	Enhancers	Placenta Amnion	Placenta Amnion
34	chr8:125483800-125486200	Enhancers	Spleen	Spleen
35	chr8:125484000-125485200	Enhancers	Fetal Muscle Leg	muscle
36	chr8:125484000-125485200	Enhancers	Placenta	Placenta
37	chr8:125484000-125489000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr8:125484200-125485200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr8:125484200-125485200	Enhancers	Psoas Muscle	Psoas
40	chr8:125484200-125485800	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr8:125484200-125488600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr8:125484200-125488600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr8:125484200-125488800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr8:125484200-125488800	Active TSS	HSMM	muscle
45	chr8:125484200-125489200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr8:125484200-125489400	Active TSS	K562	blood
47	chr8:125484400-125485200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr8:125484400-125485200	Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr8:125484400-125485200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr8:125484400-125485200	Enhancers	Brain Hippocampus Middle	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links