Variant report

Variant	rs2227320
Chromosome Location	chr17:38171264-38171265
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	FOXA1	chr17:38171167-38171583	HepG2	liver:	n/a	n/a
2	FOXA1	chr17:38171177-38171602	HepG2	liver:	n/a	n/a
3	HDAC2	chr17:38171190-38171585	HepG2	liver:	n/a	chr17:38171223-38171237
4	ZBTB7A	chr17:38171205-38171519	HepG2	liver:	n/a	chr17:38171468-38171482
5	POLR2A	chr17:38170522-38172244	HUVEC	blood vessel:	n/a	n/a
6	ZBTB7A	chr17:38171253-38171513	HepG2	liver:	n/a	chr17:38171468-38171482
7	STAT3	chr17:38170772-38171821	MCF10A-Er-Src	breast:	n/a	chr17:38171013-38171022 chr17:38171014-38171023
8	POLR2A	chr17:38170916-38176213	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr17:38170766-38176716	U87	brain:	n/a	n/a
10	POLR2A	chr17:38170628-38176722	U87	brain:	n/a	n/a
11	STAT3	chr17:38170771-38171825	MCF10A-Er-Src	breast:	n/a	chr17:38171013-38171022 chr17:38171014-38171023
12	CEBPD	chr17:38171215-38171556	HepG2	liver:	n/a	n/a
13	FOXA2	chr17:38171192-38171561	HepG2	liver:	n/a	n/a
14	FOXA1	chr17:38171180-38171647	HepG2	liver:	n/a	n/a
15	POLR2A	chr17:38171037-38171552	HUVEC	blood vessel:	n/a	n/a
16	FOXA1	chr17:38171207-38171582	HepG2	liver:	n/a	n/a
17	POLR2A	chr17:38171205-38176070	U87	brain:	n/a	n/a
18	FOS	chr17:38170778-38171864	MCF10A-Er-Src	breast:	n/a	chr17:38171023-38171032 chr17:38171014-38171022 chr17:38171010-38171021 chr17:38171015-38171022 chr17:38171027-38171036 chr17:38171013-38171023
19	POLR2A	chr17:38171253-38171492	HUVEC	blood vessel:	n/a	n/a
20	POLR2A	chr17:38170517-38172349	HUVEC	blood vessel:	n/a	n/a
21	POLR2A	chr17:38170768-38172358	HUVEC	blood vessel:	n/a	n/a
22	FOS	chr17:38170817-38171859	MCF10A-Er-Src	breast:	n/a	chr17:38171014-38171022 chr17:38171013-38171023 chr17:38171027-38171036 chr17:38171023-38171032 chr17:38171015-38171022 chr17:38171010-38171021
23	STAT3	chr17:38170723-38171824	MCF10A-Er-Src	breast:	n/a	chr17:38171013-38171022 chr17:38171014-38171023
24	ZBTB7A	chr17:38170760-38171489	K562	blood:	n/a	chr17:38171468-38171482
25	STAT3	chr17:38170811-38171866	MCF10A-Er-Src	breast:	n/a	chr17:38171013-38171022 chr17:38171014-38171023

No.	Distal block	Cell Line	Cell type
1	chr17:38169401..38172627-chr17:38277979..38280708,3	K562	blood:
2	chr17:38168785..38171760-chr17:38343651..38347238,3	K562	blood:
3	chr17:38170232..38173097-chr17:38181812..38184113,4	MCF-7	breast:
4	chr17:38170609..38173071-chr17:38181273..38184131,2	MCF-7	breast:
5	chr17:38082095..38085117-chr17:38171214..38173786,3	K562	blood:
6	chr17:38082350..38085117-chr17:38171214..38173786,2	K562	blood:

Variant related genes	Relation type
ENSG00000265799	TF binding region
CSF3	TF binding region
ENSG00000238793	Chromatin interaction
ENSG00000188895	Chromatin interaction
ENSG00000172057	Chromatin interaction
ENSG00000008838	Chromatin interaction
ENSG00000108352	Chromatin interaction
ENSG00000264968	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs2227327	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2227328	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs57554435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57870574	1.00[AMR][1000 genomes]
rs58089096	1.00[AMR][1000 genomes]
rs58951919	1.00[AMR][1000 genomes]
rs59309776	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61225269	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7208267	1.00[AMR][1000 genomes]
rs73293503	1.00[AMR][1000 genomes]
rs73295294	1.00[AMR][1000 genomes]
rs73297220	1.00[AMR][1000 genomes]
rs73301225	1.00[AMR][1000 genomes]
rs73301229	1.00[AMR][1000 genomes]
rs73301234	1.00[AMR][1000 genomes]
rs73301238	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73302168	1.00[AMR][1000 genomes]
rs73305019	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73307966	1.00[AMR][1000 genomes]
rs73309981	1.00[AMR][1000 genomes]
rs8079202	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492308	chr17:38033039-38204458	Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Enhancers Genic enhancers Flanking 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	28 gene(s)	inside rSNPs	diseases
2	nsv908220	chr17:38153473-38175426	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38153800-38172200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr17:38154800-38173600	Weak transcription	Thymus	Thymus
3	chr17:38155000-38173600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr17:38155000-38174000	Weak transcription	Fetal Brain Female	brain
5	chr17:38155800-38171800	Weak transcription	Spleen	Spleen
6	chr17:38164600-38171600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr17:38166800-38173400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr17:38166800-38173800	Weak transcription	Primary T cells from cord blood	blood
9	chr17:38166800-38174600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr17:38166800-38177400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr17:38166800-38178200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr17:38166800-38181600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr17:38167000-38174800	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr17:38169000-38171400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr17:38169200-38172400	Enhancers	NHEK	skin
16	chr17:38169400-38171800	Enhancers	HMEC	breast
17	chr17:38169600-38171600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr17:38169600-38172400	Enhancers	Stomach Mucosa	stomach
19	chr17:38169600-38172600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr17:38169600-38173200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr17:38169600-38175000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr17:38169800-38171600	Enhancers	K562	blood
23	chr17:38169800-38172200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr17:38169800-38172400	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr17:38169800-38173000	Enhancers	Fetal Stomach	stomach
26	chr17:38169800-38175600	Enhancers	Fetal Lung	lung
27	chr17:38169800-38176000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr17:38170000-38171600	Enhancers	Hela-S3	cervix
29	chr17:38170000-38171800	Enhancers	HUVEC	blood vessel
30	chr17:38170000-38172000	Enhancers	Lung	lung
31	chr17:38170000-38173200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr17:38170000-38173600	Enhancers	Fetal Muscle Trunk	muscle
33	chr17:38170000-38174000	Weak transcription	Brain Germinal Matrix	brain
34	chr17:38170000-38174200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr17:38170000-38174600	Enhancers	Fetal Muscle Leg	muscle
36	chr17:38170000-38175200	Weak transcription	Brain Angular Gyrus	brain
37	chr17:38170000-38175600	Weak transcription	Brain Cingulate Gyrus	brain
38	chr17:38170000-38176000	Enhancers	Ovary	ovary
39	chr17:38170000-38178800	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr17:38170200-38171400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr17:38170200-38171600	Enhancers	A549	lung
42	chr17:38170200-38171800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr17:38170200-38171800	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr17:38170200-38172000	Enhancers	Adipose Nuclei	Adipose
45	chr17:38170200-38172000	Enhancers	Placenta	Placenta
46	chr17:38170200-38172000	Enhancers	Right Atrium	heart
47	chr17:38170200-38172000	Flanking Active TSS	HepG2	liver
48	chr17:38170200-38172200	Enhancers	Duodenum Mucosa	Duodenum
49	chr17:38170200-38172200	Enhancers	Fetal Intestine Small	intestine
50	chr17:38170200-38172400	Enhancers	Fetal Intestine Large	intestine

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