Variant report

Variant	rs8078399
Chromosome Location	chr17:38224498-38224499
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	MXI1	chr17:38224347-38226458	IMR90	lung:	n/a	n/a
2	MAX	chr17:38224365-38225908	A549	lung:	n/a	chr17:38225778-38225789 chr17:38225779-38225788
3	FOXA1	chr17:38224270-38224597	HepG2	liver:	n/a	n/a
4	FOXA1	chr17:38224268-38224603	HepG2	liver:	n/a	n/a
5	MAX	chr17:38224242-38224824	K562	blood:	n/a	n/a
6	FOXA1	chr17:38224303-38224559	HepG2	liver:	n/a	n/a
7	FOXA1	chr17:38224200-38224621	HepG2	liver:	n/a	n/a
8	MAX	chr17:38224280-38229404	A549	lung:	n/a	chr17:38228442-38228452 chr17:38225778-38225789 chr17:38228747-38228757 chr17:38226381-38226390 chr17:38225779-38225788
9	BCL3	chr17:38224486-38226184	A549	lung:	n/a	chr17:38225976-38225983
10	FOXA2	chr17:38224288-38224561	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:38223608..38228220-chr17:38255265..38258726,4	MCF-7	breast:
2	chr17:38220009..38224777-chr17:38226169..38228893,5	MCF-7	breast:
3	chr17:38219039..38222172-chr17:38223812..38229284,8	MCF-7	breast:
4	chr17:38223441..38229037-chr17:38277080..38281500,5	MCF-7	breast:

Variant related genes	Relation type
THRA	TF binding region
ENSG00000126351	Chromatin interaction
ENSG00000126368	Chromatin interaction
ENSG00000188895	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs28754840	1.00[EUR][1000 genomes]
rs8079379	0.91[AFR][1000 genomes]
rs8082130	1.00[GIH][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv908221	chr17:38216522-38289003	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38220400-38224600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
2	chr17:38220600-38224800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr17:38220600-38224800	Enhancers	Fetal Thymus	thymus
4	chr17:38220600-38225000	Enhancers	Placenta	Placenta
5	chr17:38220800-38224600	Enhancers	Primary T cells fromperipheralblood	blood
6	chr17:38220800-38224600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr17:38221600-38224600	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr17:38221600-38224600	Enhancers	Stomach Mucosa	stomach
9	chr17:38221800-38224600	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr17:38221800-38224600	Enhancers	Brain Angular Gyrus	brain
11	chr17:38221800-38224600	Enhancers	Fetal Heart	heart
12	chr17:38221800-38224600	Enhancers	Fetal Lung	lung
13	chr17:38221800-38224600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr17:38221800-38224800	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr17:38221800-38224800	Enhancers	K562	blood
16	chr17:38221800-38225000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr17:38221800-38225600	Enhancers	Fetal Muscle Trunk	muscle
18	chr17:38221800-38225600	Enhancers	Left Ventricle	heart
19	chr17:38221800-38225800	Weak transcription	Aorta	Aorta
20	chr17:38222000-38224600	Enhancers	A549	lung
21	chr17:38222200-38224600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr17:38222200-38224600	Enhancers	Colon Smooth Muscle	Colon
23	chr17:38222200-38224600	Weak transcription	Small Intestine	intestine
24	chr17:38222200-38224800	Genic enhancers	Fetal Stomach	stomach
25	chr17:38222400-38224600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr17:38222400-38224600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr17:38222400-38224600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr17:38222400-38224600	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr17:38222400-38224600	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr17:38222400-38224800	Genic enhancers	Fetal Intestine Small	intestine
31	chr17:38222400-38225000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr17:38222400-38225000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr17:38222400-38225600	Enhancers	Fetal Intestine Large	intestine
34	chr17:38222400-38229600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr17:38222600-38224600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr17:38222600-38224600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr17:38222600-38224600	Enhancers	Brain Substantia Nigra	brain
38	chr17:38222800-38224600	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr17:38223200-38224600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr17:38223200-38224800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr17:38223200-38224800	Enhancers	Right Atrium	heart
42	chr17:38223200-38224800	Enhancers	Right Ventricle	heart
43	chr17:38223200-38225000	Enhancers	Pancreas	Pancrea
44	chr17:38223200-38225200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr17:38223200-38225600	Weak transcription	Ovary	ovary
46	chr17:38223200-38226600	Enhancers	HepG2	liver
47	chr17:38223200-38230000	Enhancers	Lung	lung
48	chr17:38223400-38224600	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr17:38223400-38224600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr17:38223400-38224600	Enhancers	Rectal Mucosa Donor 29	rectum

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