Variant report

Variant	rs567957248
Chromosome Location	chr17:38346842-38346843
allele	C/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	CTCF	chr17:38346740-38346890	NHLF	lung:	n/a	chr17:38346852-38346861
2	CTCF	chr17:38346760-38346910	GM12865	blood:	n/a	chr17:38346852-38346861
3	MXI1	chr17:38346748-38347287	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr17:38346760-38346910	AoAF	blood vessel:	n/a	chr17:38346852-38346861
5	MAZ	chr17:38346671-38346951	HepG2	liver:	n/a	n/a
6	CTCF	chr17:38346760-38346910	HUVEC	blood vessel:	n/a	chr17:38346852-38346861
7	CTCF	chr17:38346780-38346930	NB4	blood:	n/a	chr17:38346852-38346861
8	CTCF	chr17:38346776-38347022	GM12878	blood:	n/a	chr17:38346852-38346861
9	CTCF	chr17:38346800-38346950	HRE	kidney:	n/a	chr17:38346852-38346861
10	CTCF	chr17:38346776-38346972	K562	blood:	n/a	chr17:38346852-38346861
11	RAD21	chr17:38346683-38347065	HepG2	liver:	n/a	n/a
12	CTCF	chr17:38346760-38346910	HMF	breast:	n/a	chr17:38346852-38346861
13	CTCF	chr17:38346780-38346930	HCPEpiC	choroid plexus:	n/a	chr17:38346852-38346861
14	SMC3	chr17:38346768-38346967	HepG2	liver:	n/a	chr17:38346884-38346891 chr17:38346851-38346858
15	CTCF	chr17:38346786-38346933	Hela-S3	cervix:	n/a	chr17:38346852-38346861
16	CTCF	chr17:38346820-38346970	HPF	lung:	n/a	chr17:38346852-38346861
17	CTCF	chr17:38346472-38348857	SK-N-SH	brain:	n/a	chr17:38346852-38346861
18	CTCF	chr17:38346800-38346950	HFF-Myc	foreskin:	n/a	chr17:38346852-38346861
19	CTCF	chr17:38346820-38346970	GM12866	blood:	n/a	chr17:38346852-38346861
20	CTCF	chr17:38346760-38346910	HCM	heart:	n/a	chr17:38346852-38346861
21	CTCF	chr17:38346800-38346926	MCF-7	breast:	n/a	chr17:38346852-38346861
22	CTCF	chr17:38346760-38346910	HA-sp	spinal cord:	n/a	chr17:38346852-38346861
23	CTCF	chr17:38346780-38346930	SAEC	small airway:	n/a	chr17:38346852-38346861
24	CTCF	chr17:38346820-38346970	HCPEpiC	choroid plexus:	n/a	chr17:38346852-38346861
25	CTCF	chr17:38346555-38347497	A549	lung:	n/a	chr17:38346852-38346861
26	CTCF	chr17:38346619-38347108	H1-hESC	embryonic stem cell:	n/a	chr17:38346852-38346861
27	CTCF	chr17:38346780-38346930	GM12878	blood:	n/a	chr17:38346852-38346861
28	CTCF	chr17:38346760-38346910	AG09309	skin:	n/a	chr17:38346852-38346861
29	CTCF	chr17:38346760-38346910	HPAF	blood vessel:	n/a	chr17:38346852-38346861
30	CTCF	chr17:38346800-38346950	HepG2	liver:	n/a	chr17:38346852-38346861
31	CTCF	chr17:38346740-38346890	BJ	skin:	n/a	chr17:38346852-38346861
32	CTCF	chr17:38346800-38346950	Hela-S3	cervix:	n/a	chr17:38346852-38346861
33	CTCF	chr17:38346800-38346950	GM12864	blood:	n/a	chr17:38346852-38346861
34	CTCF	chr17:38346671-38347073	MCF-7	breast:	n/a	chr17:38346852-38346861
35	POLR2A	chr17:38346582-38348488	H1-hESC	embryonic stem cell:	n/a	n/a
36	SIN3A	chr17:38346739-38348233	H1-hESC	embryonic stem cell:	n/a	n/a
37	MAX	chr17:38346762-38347224	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr17:38346800-38346950	GM12869	blood:	n/a	chr17:38346852-38346861
39	CTCF	chr17:38346740-38346890	GM12865	blood:	n/a	chr17:38346852-38346861
40	CTCF	chr17:38346780-38346930	GM12864	blood:	n/a	chr17:38346852-38346861
41	CTCF	chr17:38346740-38346890	HCT-116	colon:	n/a	chr17:38346852-38346861
42	POLR2A	chr17:38346705-38347148	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr17:38346780-38346930	HEEpiC	esophagus:	n/a	chr17:38346852-38346861
44	CTCF	chr17:38346820-38346970	GM12875	blood:	n/a	chr17:38346852-38346861
45	CTCF	chr17:38346791-38346934	A549	lung:	n/a	chr17:38346852-38346861
46	CTCF	chr17:38346780-38346930	HepG2	liver:	n/a	chr17:38346852-38346861
47	EBF1	chr17:38346732-38347013	GM12878	blood:	n/a	n/a
48	CTCF	chr17:38346793-38346967	MCF-7	breast:	n/a	chr17:38346852-38346861
49	POLR2A	chr17:38346657-38347187	HepG2	liver:	n/a	n/a
50	CTCF	chr17:38346780-38346930	Hela-S3	cervix:	n/a	chr17:38346852-38346861

No.	Distal block	Cell Line	Cell type
1	chr17:38255845..38258486-chr17:38345556..38347163,2	MCF-7	breast:
2	chr17:38277920..38280919-chr17:38344747..38347808,3	MCF-7	breast:
3	chr17:38346506..38348012-chr17:38375510..38377087,2	MCF-7	breast:
4	chr17:38168785..38171760-chr17:38343651..38347238,3	K562	blood:
5	chr17:38343572..38346037-chr17:38346737..38348238,2	K562	blood:

Variant related genes	Relation type
RAPGEFL1	TF binding region
ENSG00000108352	Chromatin interaction
ENSG00000108342	Chromatin interaction
ENSG00000265799	Chromatin interaction
ENSG00000188895	Chromatin interaction
ENSG00000126368	Chromatin interaction
ENSG00000171475	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833444	chr17:38242823-38437280	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv525796	chr17:38306365-38405037	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv3413265	chr17:38346576-38348974	Active TSS Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38333200-38347000	Weak transcription	Brain Substantia Nigra	brain
2	chr17:38333600-38347000	Weak transcription	Fetal Lung	lung
3	chr17:38334000-38347000	Weak transcription	HUVEC	blood vessel
4	chr17:38334200-38347000	Weak transcription	GM12878-XiMat	blood
5	chr17:38334200-38347400	Weak transcription	Aorta	Aorta
6	chr17:38335200-38347000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr17:38335200-38347800	Weak transcription	Small Intestine	intestine
8	chr17:38335400-38347000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr17:38336400-38347000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr17:38336400-38347000	Weak transcription	NHDF-Ad	bronchial
11	chr17:38336400-38347000	Weak transcription	NHLF	lung
12	chr17:38336800-38347400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr17:38337000-38347000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr17:38337000-38347000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr17:38337000-38347000	Weak transcription	Osteobl	bone
16	chr17:38337200-38347000	Weak transcription	Brain Angular Gyrus	brain
17	chr17:38337200-38347200	Weak transcription	NH-A	brain
18	chr17:38337600-38347000	Weak transcription	HSMM	muscle
19	chr17:38337800-38347000	Weak transcription	Lung	lung
20	chr17:38337800-38347000	Weak transcription	Pancreas	Pancrea
21	chr17:38338000-38347000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr17:38338000-38347000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr17:38338000-38349800	Weak transcription	Dnd41	blood
24	chr17:38339600-38347000	Weak transcription	Left Ventricle	heart
25	chr17:38339600-38347400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr17:38341000-38347800	Weak transcription	NHEK	skin
27	chr17:38342000-38347000	Weak transcription	Stomach Mucosa	stomach
28	chr17:38342400-38347400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr17:38343400-38347000	Strong transcription	Colonic Mucosa	Colon
30	chr17:38343400-38347200	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr17:38345000-38347000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr17:38345000-38347000	Strong transcription	Fetal Intestine Small	intestine
33	chr17:38345000-38347200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr17:38345800-38347000	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr17:38345800-38347400	Weak transcription	Fetal Intestine Large	intestine
36	chr17:38345800-38347400	Weak transcription	Right Ventricle	heart
37	chr17:38346000-38347000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr17:38346000-38347400	Weak transcription	Brain Hippocampus Middle	brain
39	chr17:38346000-38347600	Weak transcription	HSMMtube	muscle
40	chr17:38346000-38348000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr17:38346200-38347200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr17:38346400-38348000	Enhancers	Fetal Heart	heart
43	chr17:38346600-38347000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr17:38346600-38347000	Enhancers	Fetal Muscle Leg	muscle
45	chr17:38346600-38347200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr17:38346600-38347200	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr17:38346600-38347200	Genic enhancers	Cortex derived primary cultured neurospheres	brain
48	chr17:38346600-38347200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr17:38346600-38347200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr17:38346600-38347200	Genic enhancers	Esophagus	oesophagus

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