Variant report

Variant	rs827527
Chromosome Location	chr8:104311714-104311715
allele	G/T
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	MAX	chr8:104310723-104311804	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr8:104310033-104311905	MCF10A-Er-Src	breast:	n/a	n/a
3	MAX	chr8:104310685-104311895	A549	lung:	n/a	n/a
4	RCOR1	chr8:104310641-104312085	Hela-S3	cervix:	n/a	n/a
5	GATA3	chr8:104310819-104311778	MCF-7	breast:	n/a	n/a
6	POLR2A	chr8:104310209-104312054	Hela-S3	cervix:	n/a	n/a
7	SIN3AK20	chr8:104310971-104312013	MCF-7	breast:	n/a	n/a
8	GTF2F1	chr8:104311470-104311865	Hela-S3	cervix:	n/a	n/a
9	CTCF	chr8:104311600-104311750	AG09309	skin:	n/a	chr8:104311691-104311699
10	ELF1	chr8:104310893-104311784	MCF-7	breast:	n/a	chr8:104310977-104310989 chr8:104311249-104311261
11	MAX	chr8:104310525-104312693	MCF-7	breast:	n/a	chr8:104312304-104312315
12	CTCF	chr8:104311700-104311850	RPTEC	kidney:	n/a	n/a
13	CTCF	chr8:104311600-104311750	HUVEC	blood vessel:	n/a	chr8:104311691-104311699
14	CTCF	chr8:104311580-104311730	HCT-116	colon:	n/a	chr8:104311691-104311699
15	CTCF	chr8:104311660-104311810	MCF-7	breast:	n/a	chr8:104311691-104311699
16	POLR2A	chr8:104310698-104311762	Hela-S3	cervix:	n/a	n/a
17	E2F6	chr8:104310610-104311926	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr8:104311640-104311790	NHEK	skin:	n/a	chr8:104311691-104311699
19	TAF1	chr8:104310676-104311818	H1-hESC	embryonic stem cell:	n/a	n/a
20	JUND	chr8:104311465-104311745	H1-hESC	embryonic stem cell:	n/a	n/a
21	MAX	chr8:104310876-104311763	SK-N-SH	brain:	n/a	n/a
22	POLR2A	chr8:104310533-104311792	Hela-S3	cervix:	n/a	n/a
23	SMARCB1	chr8:104310470-104311738	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr8:104310702-104311756	ECC-1	luminal epithelium:	n/a	n/a
25	TBP	chr8:104311441-104312356	Hela-S3	cervix:	n/a	n/a
26	CTCF	chr8:104311580-104311730	BE2_C	brain:	n/a	chr8:104311691-104311699
27	CHD2	chr8:104310347-104312089	Hela-S3	cervix:	n/a	chr8:104311292-104311302
28	E2F6	chr8:104310891-104311741	A549	lung:	n/a	n/a
29	CHD2	chr8:104310649-104311734	GM12878	blood:	n/a	chr8:104311292-104311302
30	MXI1	chr8:104311420-104312499	Hela-S3	cervix:	n/a	n/a
31	CTCF	chr8:104311580-104311730	HCM	heart:	n/a	chr8:104311691-104311699
32	POLR2A	chr8:104309992-104311831	SK-N-SH	brain:	n/a	n/a
33	E2F6	chr8:104310787-104311788	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr8:104310692-104311776	HCT-116	colon:	n/a	n/a
35	POLR2A	chr8:104310494-104312668	IMR90	lung:	n/a	n/a
36	RAD21	chr8:104310628-104312024	IMR90	lung:	n/a	chr8:104311330-104311344
37	TAF1	chr8:104310722-104311714	ECC-1	luminal epithelium:	n/a	n/a
38	TAF1	chr8:104311351-104311727	Hela-S3	cervix:	n/a	n/a
39	TCF7L2	chr8:104311198-104311800	Hela-S3	cervix:	n/a	n/a
40	MAZ	chr8:104310622-104311770	Hela-S3	cervix:	n/a	n/a
41	CTCF	chr8:104311580-104311730	HPAF	blood vessel:	n/a	chr8:104311691-104311699
42	BRCA1	chr8:104310445-104312598	Hela-S3	cervix:	n/a	chr8:104311074-104311083
43	MAX	chr8:104310632-104311801	ECC-1	luminal epithelium:	n/a	n/a
44	YY1	chr8:104311345-104311747	HCT-116	colon:	n/a	n/a
45	E2F4	chr8:104310584-104311906	MCF10A-Er-Src	breast:	n/a	n/a
46	MTA3	chr8:104311401-104312109	GM12878	blood:	n/a	n/a
47	YY1	chr8:104311043-104311754	H1-hESC	embryonic stem cell:	n/a	chr8:104311064-104311078
48	SIN3AK20	chr8:104310486-104311872	MCF-7	breast:	n/a	n/a
49	SIN3A	chr8:104311178-104311731	H1-hESC	embryonic stem cell:	n/a	chr8:104311333-104311342
50	ZNF263	chr8:104311042-104312484	HEK293-T-REx	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:104311011..104313390-chr8:104387809..104389665,2	MCF-7	breast:
2	chr8:104310872..104313669-chr8:104425556..104428778,5	MCF-7	breast:
3	chr8:104152186..104155681-chr8:104309748..104312108,3	MCF-7	breast:
4	chr1:156736343..156738985-chr8:104309679..104312476,2	MCF-7	breast:
5	chr8:104309661..104313454-chr8:104382208..104385836,8	MCF-7	breast:
6	chr8:104309966..104312210-chr8:104383451..104386900,3	MCF-7	breast:
7	chr3:101567790..101569895-chr8:104310812..104313002,2	MCF-7	breast:

Variant related genes	Relation type
FZD6	TF binding region
ENSG00000247081	TF binding region
ENSG00000164934	Chromatin interaction
ENSG00000144802	Chromatin interaction
ENSG00000164933	Chromatin interaction
ENSG00000143321	Chromatin interaction
ENSG00000236939	Chromatin interaction
ENSG00000164932	Chromatin interaction
ENSG00000143294	Chromatin interaction
ENSG00000164929	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs12680121	1.00[CEU][hapmap];0.88[AMR][1000 genomes]
rs1610204	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16870349	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17207827	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17228576	1.00[CEU][hapmap]
rs17801975	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17802011	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17802089	1.00[CEU][hapmap]
rs2687347	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2687355	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2687367	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2917546	1.00[CEU][hapmap]
rs2917547	1.00[CEU][hapmap]
rs2917548	1.00[CEU][hapmap]
rs2934725	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3098226	1.00[CEU][hapmap]
rs3134257	1.00[CEU][hapmap]
rs3134260	1.00[CEU][hapmap]
rs3134269	1.00[CEU][hapmap]
rs6468868	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7005750	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs703808	1.00[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs703809	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs827525	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs827529	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs827531	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs827532	1.00[EUR][1000 genomes]
rs827542	1.00[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs827543	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs827544	1.00[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs827545	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs827548	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs827549	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs827551	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs827553	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs827589	1.00[CEU][hapmap];0.89[AMR][1000 genomes]
rs827591	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs827594	0.83[AMR][1000 genomes]
rs827600	0.83[AMR][1000 genomes]
rs860410	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs861169	1.00[AMR][1000 genomes];0.96[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	nsv429931	chr8:104097396-104878014	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	esv1848810	chr8:104128496-104369288	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	esv1844303	chr8:104128696-104369090	Genic enhancers Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv1015965	chr8:104192086-104361108	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv1017326	chr8:104236193-104313235	Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	nsv1023181	chr8:104298542-104366365	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS 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 target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104308600-104313800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:104308800-104312400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr8:104310000-104311800	Active TSS	Rectal Smooth Muscle	rectum
4	chr8:104310000-104312000	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr8:104310000-104313400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr8:104310000-104313800	Active TSS	Aorta	Aorta
7	chr8:104310200-104311800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr8:104310200-104311800	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr8:104310200-104312000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:104310200-104312000	Active TSS	Rectal Mucosa Donor 31	rectum
11	chr8:104310200-104312600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr8:104310200-104312800	Active TSS	Stomach Smooth Muscle	stomach
13	chr8:104310400-104311800	Active TSS	H1 Cell Line	embryonic stem cell
14	chr8:104310400-104311800	Active TSS	Colon Smooth Muscle	Colon
15	chr8:104310400-104311800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
16	chr8:104310400-104311800	Active TSS	Pancreas	Pancrea
17	chr8:104310400-104311800	Active TSS	GM12878-XiMat	blood
18	chr8:104310400-104311800	Active TSS	HSMM	muscle
19	chr8:104310400-104311800	Active TSS	HSMMtube	muscle
20	chr8:104310400-104311800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
21	chr8:104310400-104311800	Active TSS	NHDF-Ad	bronchial
22	chr8:104310400-104312000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr8:104310400-104312000	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr8:104310400-104312000	Active TSS	Duodenum Mucosa	Duodenum
25	chr8:104310400-104312000	Active TSS	Placenta Amnion	Placenta Amnion
26	chr8:104310400-104312000	Active TSS	Thymus	Thymus
27	chr8:104310400-104312000	Active TSS	A549	lung
28	chr8:104310400-104312200	Active TSS	H9 Cell Line	embryonic stem cell
29	chr8:104310400-104312200	Active TSS	Brain Anterior Caudate	brain
30	chr8:104310400-104312200	Active TSS	Brain Hippocampus Middle	brain
31	chr8:104310400-104312400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr8:104310400-104312400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr8:104310400-104312400	Active TSS	Right Ventricle	heart
34	chr8:104310400-104313000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr8:104310400-104313400	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr8:104310600-104311800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr8:104310600-104311800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr8:104310600-104311800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:104310600-104311800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr8:104310600-104311800	Bivalent/Poised TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr8:104310600-104311800	Bivalent/Poised TSS	Fetal Brain Female	brain
42	chr8:104310600-104311800	Active TSS	Placenta	Placenta
43	chr8:104310600-104311800	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
44	chr8:104310600-104311800	Active TSS	Osteobl	bone
45	chr8:104310600-104312000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr8:104310600-104312000	Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr8:104310600-104312000	Active TSS	Esophagus	oesophagus
48	chr8:104310600-104312000	Active TSS	Small Intestine	intestine
49	chr8:104310600-104312200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr8:104310600-104312200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links