Variant report

Variant	rs1128757
Chromosome Location	chr8:125485201-125485202
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HCFC1	chr8:125485176-125489186	Hela-S3	cervix:	n/a	n/a
2	CCNT2	chr8:125485098-125485469	K562	blood:	n/a	n/a
3	POLR2A	chr8:125485124-125488693	MCF10A-Er-Src	breast:	n/a	n/a
4	IRF1	chr8:125484564-125487209	K562	blood:	n/a	chr8:125486200-125486214 chr8:125487107-125487121 chr8:125484776-125484797 chr8:125487110-125487120
5	STAT3	chr8:125485121-125485545	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr8:125478436-125489342	K562	blood:	n/a	n/a
7	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	chr8:125484651..125489587-chr8:125535041..125543731,11	K562	blood:
5	chr8:125459763..125466513-chr8:125482159..125488968,22	K562	blood:
6	chr8:125483604..125491110-chr8:125548591..125554086,23	K562	blood:
7	chr8:124558050..124560805-chr8:125484658..125486261,2	MCF-7	breast:
8	chr8:125484977..125488762-chr8:125516872..125524765,8	MCF-7	breast:
9	chr8:125484436..125485979-chr8:125524895..125526411,2	MCF-7	breast:
10	chr8:125484651..125486969-chr8:125535041..125537083,3	K562	blood:
11	chr8:125484298..125489708-chr8:125549185..125553061,9	MCF-7	breast:
12	chr8:125458285..125469406-chr8:125482519..125490004,41	MCF-7	breast:
13	chr1:11969658..11970500-chr8:125484907..125485513,2	NB4	blood:
14	chr10:76993820..76995624-chr8:125485040..125487047,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TATDN1-1	chr8:125485051-125486817	ENSG00000245149
2	lnc-TATDN1-1	chr8:125485049-125485228	ENSG00000245149
3	lnc-TATDN1-1	chr8:125484548-125487007	NONHSAT128586

No data

Variant related genes	Relation type
RNF139	TF binding region
ENSG00000183665	Chromatin interaction
ENSG00000201801	Chromatin interaction
ENSG00000147684	Chromatin interaction
ENSG00000165644	Chromatin interaction
ENSG00000147687	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16899658	1.00[EUR][1000 genomes]
rs3924459	1.00[ASW][hapmap];0.95[LWK][hapmap];0.94[MKK][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4077330	1.00[MEX][hapmap]
rs4262309	1.00[MEX][hapmap]
rs56946240	0.99[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];0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6997810	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs6997843	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]
rs73340053	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73340071	0.98[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:3 , 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	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
3	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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125464600-125485800	Weak transcription	Esophagus	oesophagus
2	chr8:125464600-125486000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:125464800-125485400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr8:125465000-125485400	Weak transcription	Gastric	stomach
5	chr8:125466000-125485400	Weak transcription	Lung	lung
6	chr8:125467200-125485400	Weak transcription	Left Ventricle	heart
7	chr8:125477600-125485800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr8:125478600-125486000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr8:125483000-125485400	Enhancers	Small Intestine	intestine
10	chr8:125483400-125485400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr8:125483600-125485400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr8:125483600-125485600	Enhancers	Primary B cells from peripheral blood	blood
13	chr8:125483800-125485400	Enhancers	Primary T cells fromperipheralblood	blood
14	chr8:125483800-125485400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr8:125483800-125485400	Enhancers	Placenta Amnion	Placenta Amnion
16	chr8:125483800-125486200	Enhancers	Spleen	Spleen
17	chr8:125484000-125489000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr8:125484200-125485800	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr8:125484200-125488600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr8:125484200-125488600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr8:125484200-125488800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr8:125484200-125488800	Active TSS	HSMM	muscle
23	chr8:125484200-125489200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr8:125484200-125489400	Active TSS	K562	blood
25	chr8:125484400-125485400	Enhancers	Primary B cells from cord blood	blood
26	chr8:125484400-125485400	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr8:125484400-125485800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
28	chr8:125484400-125485800	Flanking Active TSS	HUVEC	blood vessel
29	chr8:125484400-125486000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr8:125484400-125486000	Flanking Active TSS	Brain Germinal Matrix	brain
31	chr8:125484400-125486200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr8:125484400-125488400	Active TSS	Muscle Satellite Cultured Cells	--
33	chr8:125484400-125488800	Active TSS	NHLF	lung
34	chr8:125484400-125489000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr8:125484400-125489600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr8:125484600-125485400	Active TSS	Stomach Smooth Muscle	stomach
37	chr8:125484600-125485600	Flanking Active TSS	Osteobl	bone
38	chr8:125484600-125485800	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr8:125484600-125485800	Flanking Active TSS	Duodenum Mucosa	Duodenum
40	chr8:125484600-125486000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr8:125484600-125486000	Flanking Active TSS	Dnd41	blood
42	chr8:125484600-125486200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr8:125484600-125486800	Flanking Active TSS	Primary hematopoietic stem cells	blood
44	chr8:125484600-125487600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr8:125484600-125488600	Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr8:125484600-125488600	Active TSS	NHDF-Ad	bronchial
47	chr8:125484600-125489200	Active TSS	Right Ventricle	heart
48	chr8:125484800-125485400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr8:125484800-125485400	Active TSS	Brain Angular Gyrus	brain
50	chr8:125484800-125485800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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