Variant report

Variant	rs2227335
Chromosome Location	chr17:38174680-38174681
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:29)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:29 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:38173721-38174772	GM12892	blood:	n/a	n/a
2	POLR2A	chr17:38173011-38174885	K562	blood:	n/a	n/a
3	STAT3	chr17:38174032-38174695	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr17:38174448-38174925	HL-60	blood:	n/a	n/a
5	POLR2A	chr17:38174487-38174780	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr17:38174363-38174777	HL-60	blood:	n/a	n/a
7	POLR2A	chr17:38174547-38174689	K562	blood:	n/a	n/a
8	ELF1	chr17:38174502-38174725	K562	blood:	n/a	n/a
9	POLR2A	chr17:38170916-38176213	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr17:38173937-38175874	MCF10A-Er-Src	breast:	n/a	chr17:38174947-38174956
11	POLR2A	chr17:38170766-38176716	U87	brain:	n/a	n/a
12	POLR2A	chr17:38170628-38176722	U87	brain:	n/a	n/a
13	POLR2A	chr17:38174304-38174846	GM12878	blood:	n/a	n/a
14	POLR2A	chr17:38171303-38175657	MCF10A-Er-Src	breast:	n/a	n/a
15	ZNF143	chr17:38174650-38175025	H1-hESC	embryonic stem cell:	n/a	chr17:38174937-38174955
16	POLR2A	chr17:38174388-38174711	GM12891	blood:	n/a	n/a
17	POLR2A	chr17:38173854-38176132	HUVEC	blood vessel:	n/a	n/a
18	POLR2A	chr17:38174529-38175169	H1-hESC	embryonic stem cell:	n/a	n/a
19	ELF1	chr17:38174533-38174697	HepG2	liver:	n/a	n/a
20	POLR2A	chr17:38173296-38175247	K562	blood:	n/a	n/a
21	STAT3	chr17:38174025-38174706	MCF10A-Er-Src	breast:	n/a	n/a
22	POLR2A	chr17:38174089-38176121	HUVEC	blood vessel:	n/a	n/a
23	POLR2A	chr17:38173844-38174714	HepG2	liver:	n/a	n/a
24	POLR2A	chr17:38171205-38176070	U87	brain:	n/a	n/a
25	STAT3	chr17:38174313-38174793	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr17:38173976-38176162	HUVEC	blood vessel:	n/a	n/a
27	POLR2A	chr17:38174193-38174858	K562	blood:	n/a	n/a
28	POLR2A	chr17:38174467-38174846	GM12878	blood:	n/a	n/a
29	POLR2A	chr17:38174125-38174783	GM12892	blood:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:38173133..38174723-chr17:38181069..38183425,2	K562	blood:
2	chr17:38171795..38174739-chr17:38253717..38256695,2	K562	blood:
3	chr17:38174242..38176838-chr17:38278779..38280861,2	MCF-7	breast:
4	chr17:38172520..38175725-chr17:38187607..38191443,4	MCF-7	breast:
5	chr17:38169328..38171805-chr17:38172299..38175519,5	K562	blood:
6	chr17:38172859..38176802-chr17:38178682..38181500,4	K562	blood:
7	chr17:38141745..38144493-chr17:38173834..38176591,2	MCF-7	breast:
8	chr17:38173047..38175621-chr17:38177692..38179979,3	MCF-7	breast:
9	chr17:38171100..38173173-chr17:38173231..38176436,3	K562	blood:
10	chr17:38143597..38146360-chr17:38172431..38175405,3	K562	blood:
11	chr17:38172636..38175341-chr17:38255721..38258482,3	MCF-7	breast:
12	chr17:38172905..38174715-chr17:38255635..38257887,2	MCF-7	breast:
13	chr17:38169328..38171032-chr17:38172943..38175519,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000265799	TF binding region
ENSG00000108342	Chromatin interaction
ENSG00000265799	Chromatin interaction
ENSG00000008838	Chromatin interaction
ENSG00000126368	Chromatin interaction
ENSG00000108344	Chromatin interaction
ENSG00000188895	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16965540	0.82[AFR][1000 genomes]
rs2227334	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7501734	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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38166800-38177400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr17:38166800-38178200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr17:38166800-38181600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr17:38167000-38174800	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr17:38169600-38175000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr17:38169800-38175600	Enhancers	Fetal Lung	lung
7	chr17:38169800-38176000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr17:38170000-38175200	Weak transcription	Brain Angular Gyrus	brain
9	chr17:38170000-38175600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr17:38170000-38176000	Enhancers	Ovary	ovary
11	chr17:38170000-38178800	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr17:38170200-38175400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr17:38170200-38175600	Weak transcription	Brain Substantia Nigra	brain
14	chr17:38170200-38175800	Weak transcription	Primary B cells from cord blood	blood
15	chr17:38170400-38175000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr17:38170400-38175200	Weak transcription	Fetal Brain Male	brain
17	chr17:38170400-38175200	Weak transcription	Dnd41	blood
18	chr17:38170400-38177600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr17:38170400-38181600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr17:38171000-38175200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr17:38171200-38175600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr17:38171400-38186000	Weak transcription	Small Intestine	intestine
23	chr17:38171600-38175200	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr17:38171600-38176800	Weak transcription	Hela-S3	cervix
25	chr17:38171800-38175200	Weak transcription	Fetal Thymus	thymus
26	chr17:38172000-38175000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr17:38172000-38175600	Weak transcription	GM12878-XiMat	blood
28	chr17:38172200-38176000	Enhancers	HUVEC	blood vessel
29	chr17:38172400-38175600	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr17:38172400-38175800	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr17:38172400-38178400	Weak transcription	Primary hematopoietic stem cells	blood
32	chr17:38172800-38176800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr17:38173000-38176600	Genic enhancers	Fetal Stomach	stomach
34	chr17:38173000-38179600	Strong transcription	Fetal Intestine Small	intestine
35	chr17:38173000-38181400	Weak transcription	Fetal Kidney	kidney
36	chr17:38173200-38175000	Genic enhancers	HMEC	breast
37	chr17:38173200-38176800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr17:38173400-38175000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr17:38173400-38183800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr17:38173400-38192800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr17:38173600-38174800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr17:38173600-38175400	Enhancers	Fetal Heart	heart
43	chr17:38173600-38176600	Enhancers	Psoas Muscle	Psoas
44	chr17:38173600-38180200	Genic enhancers	Fetal Muscle Trunk	muscle
45	chr17:38173600-38180400	Genic enhancers	NHLF	lung
46	chr17:38173600-38182000	Strong transcription	Thymus	Thymus
47	chr17:38173800-38174800	Strong transcription	Brain Hippocampus Middle	brain
48	chr17:38173800-38175000	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr17:38173800-38175800	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr17:38173800-38176000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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