Variant report

Variant	rs9913992
Chromosome Location	chr17:38477595-38477596
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:36)
CpG islands
(count:0)
Chromatin interactive
region (count:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:36 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:38477299-38477679	U87	brain:	n/a	n/a
2	ZBTB7A	chr17:38477216-38477640	K562	blood:	n/a	chr17:38477340-38477354
3	POLR2A	chr17:38477142-38477890	U87	brain:	n/a	n/a
4	E2F6	chr17:38477382-38477749	K562	blood:	n/a	n/a
5	POLR2A	chr17:38477146-38479988	GM12892	blood:	n/a	n/a
6	SIN3A	chr17:38477476-38477633	GM12878	blood:	n/a	n/a
7	REST	chr17:38477508-38477768	K562	blood:	n/a	n/a
8	MTA3	chr17:38477439-38481222	GM12878	blood:	n/a	n/a
9	MAX	chr17:38477274-38477750	K562	blood:	n/a	n/a
10	POLR2A	chr17:38477215-38479882	GM12878	blood:	n/a	n/a
11	MYC	chr17:38477459-38477781	MCF-7	breast:	n/a	n/a
12	POLR2A	chr17:38477154-38477782	MCF-7	breast:	n/a	n/a
13	TEAD4	chr17:38477226-38477869	K562	blood:	n/a	n/a
14	POLR2A	chr17:38475989-38477906	SK-N-MC	brain:	n/a	n/a
15	POLR2A	chr17:38472335-38481214	MCF-7	breast:	n/a	n/a
16	POLR2A	chr17:38477411-38477742	K562	blood:	n/a	n/a
17	POLR2A	chr17:38476042-38480864	HL-60	blood:	n/a	n/a
18	POLR2A	chr17:38476811-38479765	IMR90	lung:	n/a	n/a
19	EGR1	chr17:38477337-38477789	K562	blood:	n/a	chr17:38477726-38477736
20	MXI1	chr17:38477254-38480223	SK-N-SH	brain:	n/a	chr17:38479250-38479265
21	POLR2A	chr17:38477374-38479775	GM18505	blood:	n/a	n/a
22	MAZ	chr17:38477458-38477729	K562	blood:	n/a	n/a
23	POLR2A	chr17:38476187-38479685	PBDE	blood:	n/a	n/a
24	POLR2A	chr17:38477415-38478017	GM12892	blood:	n/a	n/a
25	ESR1	chr17:38477342-38477779	ECC-1	luminal epithelium:	n/a	n/a
26	EP300	chr17:38477364-38477857	MCF-7	breast:	n/a	chr17:38477743-38477757
27	POLR2A	chr17:38477249-38477884	U87	brain:	n/a	n/a
28	POLR2A	chr17:38477126-38477895	MCF-7	breast:	n/a	n/a
29	POLR2A	chr17:38477354-38477688	ECC-1	luminal epithelium:	n/a	n/a
30	MAX	chr17:38477546-38477799	K562	blood:	n/a	n/a
31	EGR1	chr17:38477245-38477853	K562	blood:	n/a	chr17:38477726-38477736
32	MAX	chr17:38477228-38477945	MCF-7	breast:	n/a	n/a
33	ESR1	chr17:38477388-38477798	T-47D	breast:	n/a	n/a
34	POLR2A	chr17:38477405-38477720	ProgFib	skin:	n/a	n/a
35	RUNX3	chr17:38477227-38477599	GM12878	blood:	n/a	n/a
36	POLR2A	chr17:38477206-38481079	GM19193	blood:	n/a	n/a

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:38178159..38180742-chr17:38476300..38479063,2	MCF-7	breast:
2	chr17:38475627..38478371-chr17:38705771..38707346,2	MCF-7	breast:
3	chr17:38331383..38339312-chr17:38470464..38480799,28	MCF-7	breast:
4	chr17:38471740..38479367-chr17:38570407..38574457,9	MCF-7	breast:
5	chr17:38475479..38477796-chr17:39942812..39945764,2	MCF-7	breast:
6	chr17:38447338..38449200-chr17:38476939..38478828,2	K562	blood:
7	chr17:38476152..38478108-chr17:73060219..73062793,2	MCF-7	breast:
8	chr17:38477012..38478590-chr4:83272493..83274377,2	MCF-7	breast:
9	chr17:38476847..38478744-chr17:39685935..39688237,2	MCF-7	breast:
10	chr17:38446353..38447865-chr17:38474909..38477598,2	MCF-7	breast:
11	chr17:38476409..38478067-chr3:63637025..63639364,2	MCF-7	breast:
12	chr17:38474075..38478371-chr17:38679567..38683859,4	MCF-7	breast:
13	chr11:34936821..34938525-chr17:38476825..38479359,2	MCF-7	breast:
14	chr17:38277797..38279909-chr17:38476565..38478933,2	K562	blood:
15	chr17:38442528..38445834-chr17:38472414..38479758,11	K562	blood:
16	chr17:38443836..38445991-chr17:38477001..38479281,2	MCF-7	breast:
17	chr17:38296023..38297904-chr17:38477455..38478986,2	MCF-7	breast:
18	chr17:38269551..38272040-chr17:38476568..38478805,2	MCF-7	breast:
19	chr17:38475685..38480356-chr17:38717204..38721224,4	MCF-7	breast:
20	chr17:38461615..38484404-chr17:38597525..38608992,85	MCF-7	breast:
21	chr17:38472788..38480698-chr17:38493295..38509406,39	K562	blood:
22	chr17:38476683..38479146-chr20:52567743..52569927,2	MCF-7	breast:
23	chr17:38227220..38228804-chr17:38476454..38478052,2	MCF-7	breast:
24	chr17:38472365..38479201-chr17:39681418..39685520,11	MCF-7	breast:
25	chr17:38476335..38479262-chr17:38671461..38673765,2	K562	blood:

No data

Variant related genes	Relation type
RARA	TF binding region
ENSG00000266088	Chromatin interaction
ENSG00000110435	Chromatin interaction
ENSG00000141753	Chromatin interaction
ENSG00000188895	Chromatin interaction
ENSG00000108352	Chromatin interaction
ENSG00000131759	Chromatin interaction
ENSG00000094804	Chromatin interaction
ENSG00000131747	Chromatin interaction
ENSG00000188817	Chromatin interaction
ENSG00000108349	Chromatin interaction
ENSG00000126353	Chromatin interaction
ENSG00000126351	Chromatin interaction
ENSG00000008838	Chromatin interaction
ENSG00000265666	Chromatin interaction
ENSG00000173801	Chromatin interaction
ENSG00000149089	Chromatin interaction
ENSG00000171345	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11867497	1.00[MEX][hapmap]
rs12937995	1.00[MEX][hapmap]
rs28742572	1.00[MEX][hapmap]
rs35163502	1.00[MEX][hapmap]
rs35487582	1.00[MEX][hapmap]
rs9895942	1.00[MEX][hapmap]

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	nsv1058194	chr17:38457226-38502453	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	esv1825614	chr17:38466377-38481100	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
3	nsv833445	chr17:38466474-38637969	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv1063310	chr17:38467043-38499351	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
5	nsv1057471	chr17:38467043-38502453	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
6	nsv1058540	chr17:38467043-38515087	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 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	chr17:38472200-38480800	Flanking Active TSS	Stomach Smooth Muscle	stomach
2	chr17:38473200-38481000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
3	chr17:38473200-38481200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr17:38473400-38481200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr17:38473600-38478800	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr17:38473800-38480600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
7	chr17:38474600-38480000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
8	chr17:38474800-38478800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
9	chr17:38474800-38481000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
10	chr17:38474800-38487000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr17:38475000-38479000	Flanking Active TSS	Fetal Muscle Trunk	muscle
12	chr17:38475000-38479200	Flanking Active TSS	Fetal Muscle Leg	muscle
13	chr17:38475000-38480000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
14	chr17:38475000-38481000	Flanking Active TSS	Adipose Nuclei	Adipose
15	chr17:38475200-38478800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
16	chr17:38475400-38477800	Flanking Active TSS	Fetal Lung	lung
17	chr17:38475400-38479600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr17:38475400-38480600	Enhancers	Placenta Amnion	Placenta Amnion
19	chr17:38475400-38481000	Flanking Active TSS	Osteobl	bone
20	chr17:38475600-38477800	Enhancers	Brain Hippocampus Middle	brain
21	chr17:38475600-38477800	Enhancers	Esophagus	oesophagus
22	chr17:38475600-38478000	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr17:38475600-38478400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr17:38475600-38478400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr17:38475600-38478600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr17:38475600-38478600	Enhancers	Brain Angular Gyrus	brain
27	chr17:38475600-38480800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
28	chr17:38475600-38482600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr17:38475600-38484600	Enhancers	Placenta	Placenta
30	chr17:38475600-38484600	Enhancers	Spleen	Spleen
31	chr17:38475600-38484800	Enhancers	Stomach Mucosa	stomach
32	chr17:38475800-38477800	Enhancers	Fetal Thymus	thymus
33	chr17:38475800-38478000	Enhancers	Dnd41	blood
34	chr17:38475800-38478200	Enhancers	Left Ventricle	heart
35	chr17:38475800-38478400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr17:38475800-38478400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr17:38475800-38478400	Enhancers	Fetal Intestine Large	intestine
38	chr17:38475800-38478600	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr17:38475800-38478600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
40	chr17:38475800-38478600	Enhancers	NH-A	brain
41	chr17:38476000-38478400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
42	chr17:38476000-38478400	Weak transcription	Aorta	Aorta
43	chr17:38476000-38478600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
44	chr17:38476000-38478600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr17:38476000-38478600	Enhancers	HepG2	liver
46	chr17:38476000-38479800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr17:38476000-38480000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr17:38476200-38477800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr17:38476200-38477800	Flanking Active TSS	Lung	lung
50	chr17:38476200-38478200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood

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