Variant report

Variant	rs2227334
Chromosome Location	chr17:38174209-38174210
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 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	chr17:38173369-38174229	PFSK-1	brain:	n/a	n/a
5	POLR2A	chr17:38173672-38174318	SK-N-MC	brain:	n/a	n/a
6	ZNF263	chr17:38173836-38174581	HEK293-T-REx	kidney:	n/a	chr17:38174157-38174178
7	POLR2A	chr17:38170916-38176213	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr17:38173937-38175874	MCF10A-Er-Src	breast:	n/a	chr17:38174947-38174956
9	POLR2A	chr17:38170766-38176716	U87	brain:	n/a	n/a
10	POLR2A	chr17:38170628-38176722	U87	brain:	n/a	n/a
11	POLR2A	chr17:38171303-38175657	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr17:38173854-38176132	HUVEC	blood vessel:	n/a	n/a
13	POLR2A	chr17:38173296-38175247	K562	blood:	n/a	n/a
14	STAT3	chr17:38174025-38174706	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr17:38174089-38176121	HUVEC	blood vessel:	n/a	n/a
16	POLR2A	chr17:38173844-38174714	HepG2	liver:	n/a	n/a
17	POLR2A	chr17:38171205-38176070	U87	brain:	n/a	n/a
18	POLR2A	chr17:38173976-38176162	HUVEC	blood vessel:	n/a	n/a
19	POLR2A	chr17:38174193-38174858	K562	blood:	n/a	n/a
20	POLR2A	chr17:38173919-38174400	HL-60	blood:	n/a	n/a
21	POLR2A	chr17:38174174-38174620	GM12892	blood:	n/a	n/a
22	POLR2A	chr17:38174125-38174783	GM12892	blood:	n/a	n/a
23	POLR2A	chr17:38173172-38174674	Hela-S3	cervix:	n/a	n/a

No data

(count:12 , 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	chr17:38172520..38175725-chr17:38187607..38191443,4	MCF-7	breast:
4	chr17:38169328..38171805-chr17:38172299..38175519,5	K562	blood:
5	chr17:38172859..38176802-chr17:38178682..38181500,4	K562	blood:
6	chr17:38141745..38144493-chr17:38173834..38176591,2	MCF-7	breast:
7	chr17:38173047..38175621-chr17:38177692..38179979,3	MCF-7	breast:
8	chr17:38171100..38173173-chr17:38173231..38176436,3	K562	blood:
9	chr17:38143597..38146360-chr17:38172431..38175405,3	K562	blood:
10	chr17:38172636..38175341-chr17:38255721..38258482,3	MCF-7	breast:
11	chr17:38172905..38174715-chr17:38255635..38257887,2	MCF-7	breast:
12	chr17:38169328..38171032-chr17:38172943..38175519,2	K562	blood:

No data

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

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs16965540	0.82[YRI][hapmap];0.93[AFR][1000 genomes]
rs2227335	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41365448	1.00[MEX][hapmap]
rs61753395	0.85[AFR][1000 genomes]
rs7501734	1.00[ASW][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8082130	1.00[MEX][hapmap]
rs9282660	0.85[AFR][1000 genomes]
rs9890792	1.00[MEX][hapmap]
rs9894164	1.00[MEX][hapmap]
rs9898129	1.00[MEX][hapmap]
rs9903261	1.00[MEX][hapmap]
rs9910635	1.00[MEX][hapmap]
rs9911936	1.00[MEX][hapmap]

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	chr17:38166800-38174600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr17:38166800-38177400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr17:38166800-38178200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr17:38166800-38181600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr17:38167000-38174800	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr17:38169600-38175000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr17:38169800-38175600	Enhancers	Fetal Lung	lung
8	chr17:38169800-38176000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr17:38170000-38174600	Enhancers	Fetal Muscle Leg	muscle
10	chr17:38170000-38175200	Weak transcription	Brain Angular Gyrus	brain
11	chr17:38170000-38175600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr17:38170000-38176000	Enhancers	Ovary	ovary
13	chr17:38170000-38178800	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr17:38170200-38174400	Weak transcription	Primary B cells from peripheral blood	blood
15	chr17:38170200-38174600	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr17:38170200-38175400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr17:38170200-38175600	Weak transcription	Brain Substantia Nigra	brain
18	chr17:38170200-38175800	Weak transcription	Primary B cells from cord blood	blood
19	chr17:38170400-38174600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr17:38170400-38175000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr17:38170400-38175200	Weak transcription	Fetal Brain Male	brain
22	chr17:38170400-38175200	Weak transcription	Dnd41	blood
23	chr17:38170400-38177600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr17:38170400-38181600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr17:38171000-38174400	Weak transcription	Esophagus	oesophagus
26	chr17:38171000-38174600	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr17:38171000-38175200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr17:38171200-38175600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr17:38171400-38174400	Weak transcription	NH-A	brain
30	chr17:38171400-38174600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr17:38171400-38186000	Weak transcription	Small Intestine	intestine
32	chr17:38171600-38175200	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr17:38171600-38176800	Weak transcription	Hela-S3	cervix
34	chr17:38171800-38174400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr17:38171800-38175200	Weak transcription	Fetal Thymus	thymus
36	chr17:38172000-38175000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr17:38172000-38175600	Weak transcription	GM12878-XiMat	blood
38	chr17:38172200-38174400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr17:38172200-38174400	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr17:38172200-38174600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr17:38172200-38174600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr17:38172200-38176000	Enhancers	HUVEC	blood vessel
43	chr17:38172400-38174400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr17:38172400-38174400	Weak transcription	HepG2	liver
45	chr17:38172400-38175600	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr17:38172400-38175800	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr17:38172400-38178400	Weak transcription	Primary hematopoietic stem cells	blood
48	chr17:38172600-38174400	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
49	chr17:38172600-38174600	Weak transcription	Colonic Mucosa	Colon
50	chr17:38172800-38176800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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