Variant report

Variant	rs4135030
Chromosome Location	chr17:38457548-38457549
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr17:38457437-38458035	MCF-7	breast:	n/a	n/a
2	CTCF	chr17:38457535-38458013	MCF-7	breast:	n/a	n/a
3	CTCF	chr17:38457473-38458003	HCT-116	colon:	n/a	n/a
4	RAD21	chr17:38457504-38457976	SK-N-SH_RA	brain:	n/a	n/a
5	CTCF	chr17:38457346-38458008	HCT-116	colon:	n/a	n/a
6	CTCF	chr17:38457528-38457988	MCF-7	breast:	n/a	n/a
7	RAD21	chr17:38457525-38458038	A549	lung:	n/a	n/a
8	RAD21	chr17:38457522-38457946	MCF-7	breast:	n/a	n/a
9	CTCF	chr17:38457546-38458009	T-47D	breast:	n/a	n/a
10	SMC3	chr17:38457128-38458101	SK-N-SH	brain:	n/a	n/a
11	CTCF	chr17:38457539-38457849	H1-hESC	embryonic stem cell:	n/a	n/a
12	RAD21	chr17:38457540-38457897	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr17:38457376-38458316	A549	lung:	n/a	n/a
14	CTCF	chr17:38457400-38458210	SK-N-SH	brain:	n/a	n/a
15	RAD21	chr17:38457495-38458087	HCT-116	colon:	n/a	n/a
16	RAD21	chr17:38457518-38458079	A549	lung:	n/a	n/a
17	RAD21	chr17:38457361-38458272	SK-N-SH	brain:	n/a	n/a
18	RAD21	chr17:38457458-38458032	HCT-116	colon:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr17:38457278..38458221-chr17:38510933..38511911,3	MCF-7	breast:
2	chr17:38457434..38458195-chr17:38511207..38511763,2	K562	blood:
3	chr17:38442854..38446302-chr17:38456093..38459908,5	K562	blood:
4	chr17:38457066..38460899-chr17:38504442..38513119,13	K562	blood:
5	chr17:38455293..38459575-chr17:38570214..38574368,4	MCF-7	breast:
6	chr17:38452834..38455610-chr17:38456098..38459250,4	K562	blood:
7	chr17:38449436..38452004-chr17:38456065..38458907,3	K562	blood:
8	chr17:38455598..38459655-chr17:38495961..38498468,3	K562	blood:
9	chr17:38288101..38290395-chr17:38457503..38459263,2	K562	blood:
10	chr17:38456693..38459299-chr17:38572579..38575149,3	MCF-7	breast:
11	chr17:38457285..38458135-chr17:38571246..38571957,2	MCF-7	breast:
12	chr17:38456318..38459056-chr17:38610641..38612349,2	MCF-7	breast:
13	chr17:38449436..38452276-chr17:38456065..38458453,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000270145	TF binding region
ENSG00000188895	Chromatin interaction
ENSG00000131759	Chromatin interaction
ENSG00000094804	Chromatin interaction
ENSG00000131747	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10305288	1.00[AFR][1000 genomes]
rs10305296	1.00[AFR][1000 genomes]
rs10305303	1.00[AFR][1000 genomes]
rs10512482	0.92[EUR][1000 genomes]
rs1104761	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11540720	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs11867902	1.00[CEU][hapmap]
rs12103533	0.92[EUR][1000 genomes]
rs15685	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16965660	0.92[EUR][1000 genomes]
rs16965669	0.92[EUR][1000 genomes]
rs16965734	0.92[EUR][1000 genomes]
rs16965736	0.92[EUR][1000 genomes]
rs16965748	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs16965774	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs16965778	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs17557495	1.00[AFR][1000 genomes]
rs17616365	1.00[AMR][1000 genomes]
rs17616543	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17616672	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17616879	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17617263	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17618397	1.00[AFR][1000 genomes]
rs17678817	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17678959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17678990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17679038	1.00[AFR][1000 genomes]
rs17679086	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17679361	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17680217	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17680410	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17680507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17680624	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17680685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17680704	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2012667	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2229773	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28362320	0.92[EUR][1000 genomes]
rs28362321	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28526298	0.92[EUR][1000 genomes]
rs33998939	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34270904	0.92[EUR][1000 genomes]
rs34300454	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs35783632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35898909	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41283417	0.92[EUR][1000 genomes]
rs41283423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4134993	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4134998	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4135005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4135007	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4135012	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4135019	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4135021	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4135027	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45612441	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7214783	0.85[EUR][1000 genomes]
rs72819623	1.00[AFR][1000 genomes]
rs72819624	1.00[AFR][1000 genomes]
rs72819628	1.00[AFR][1000 genomes]
rs72819630	1.00[AFR][1000 genomes]
rs72819632	1.00[AFR][1000 genomes]
rs72819633	1.00[AFR][1000 genomes]
rs72819651	1.00[AFR][1000 genomes]
rs8067519	0.92[EUR][1000 genomes]
rs8071687	0.92[EUR][1000 genomes]
rs8077482	0.92[EUR][1000 genomes]
rs9889905	0.92[EUR][1000 genomes]
rs9891944	1.00[EUR][1000 genomes]
rs9894364	0.92[EUR][1000 genomes]
rs9894807	0.92[EUR][1000 genomes]
rs9898500	0.92[EUR][1000 genomes]
rs9899425	0.92[EUR][1000 genomes]
rs9900154	0.92[EUR][1000 genomes]
rs9903293	0.92[EUR][1000 genomes]
rs9906274	1.00[EUR][1000 genomes]
rs9909777	0.92[EUR][1000 genomes]
rs9909811	0.92[EUR][1000 genomes]
rs9910373	0.92[EUR][1000 genomes]
rs9915775	0.92[EUR][1000 genomes]

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	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

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38444600-38459400	Weak transcription	Brain Angular Gyrus	brain
2	chr17:38444600-38459400	Weak transcription	Spleen	Spleen
3	chr17:38444600-38459600	Weak transcription	Brain Anterior Caudate	brain
4	chr17:38444600-38459600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr17:38444600-38459600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr17:38444800-38459200	Weak transcription	Fetal Intestine Large	intestine
7	chr17:38444800-38459400	Weak transcription	Fetal Kidney	kidney
8	chr17:38444800-38459400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr17:38444800-38459600	Weak transcription	Right Ventricle	heart
10	chr17:38444800-38459600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr17:38444800-38462600	Weak transcription	Esophagus	oesophagus
12	chr17:38445000-38459600	Weak transcription	Colonic Mucosa	Colon
13	chr17:38445400-38459400	Weak transcription	Primary T cells from cord blood	blood
14	chr17:38445400-38459400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr17:38445600-38459600	Weak transcription	Primary B cells from cord blood	blood
16	chr17:38445600-38460200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr17:38445600-38462600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr17:38446000-38459400	Strong transcription	Fetal Thymus	thymus
19	chr17:38446000-38461000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr17:38447000-38459200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr17:38447000-38459200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr17:38447000-38459600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr17:38447000-38459600	Weak transcription	Placenta	Placenta
24	chr17:38447200-38459200	Weak transcription	Liver	Liver
25	chr17:38447200-38459400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr17:38447400-38458800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr17:38447400-38459200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr17:38447400-38459200	Strong transcription	A549	lung
29	chr17:38447800-38459200	Weak transcription	Fetal Lung	lung
30	chr17:38448600-38460000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr17:38449200-38460200	Strong transcription	HepG2	liver
32	chr17:38449400-38459000	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr17:38449400-38459200	Strong transcription	K562	blood
34	chr17:38449800-38459000	Strong transcription	HMEC	breast
35	chr17:38450800-38461200	Strong transcription	Dnd41	blood
36	chr17:38452400-38459000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr17:38452400-38459400	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr17:38452600-38458200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
39	chr17:38452600-38459600	Weak transcription	Brain Germinal Matrix	brain
40	chr17:38452600-38459800	Weak transcription	Fetal Brain Female	brain
41	chr17:38452600-38460800	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr17:38452600-38461000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr17:38452800-38459600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr17:38452800-38461400	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr17:38452800-38461400	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr17:38453000-38459600	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr17:38453000-38461000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr17:38453000-38462600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr17:38453200-38459400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
50	chr17:38453200-38459400	Weak transcription	Adipose Nuclei	Adipose

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