Variant report

Variant	rs373948426
Chromosome Location	chr17:19770759-19770760
allele	A/G
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	TBP	chr17:19770294-19771579	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr17:19770047-19771566	A549	lung:	n/a	n/a
3	POLR2A	chr17:19770239-19771509	A549	lung:	n/a	n/a
4	POLR2A	chr17:19770334-19771429	IMR90	lung:	n/a	n/a
5	POLR2A	chr17:19770261-19771438	GM18951	blood:	n/a	n/a
6	MAX	chr17:19770097-19771550	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr17:19770307-19771374	GM12878	blood:	n/a	n/a
8	JUND	chr17:19770067-19771550	A549	lung:	n/a	chr17:19770760-19770769
9	CTBP2	chr17:19770220-19771829	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr17:19770126-19771589	HUVEC	blood vessel:	n/a	n/a
11	MAX	chr17:19770149-19770992	HepG2	liver:	n/a	n/a
12	YY1	chr17:19770675-19770903	GM12891	blood:	n/a	chr17:19770764-19770778 chr17:19770731-19770745
13	POLR2A	chr17:19769869-19771551	MCF10A-Er-Src	breast:	n/a	n/a
14	ELF1	chr17:19770068-19771543	GM12878	blood:	n/a	chr17:19770936-19770948 chr17:19770968-19770980 chr17:19771201-19771210 chr17:19771397-19771409 chr17:19771003-19771012
15	POLR2A	chr17:19770225-19771410	HCT-116	colon:	n/a	n/a
16	POLR2A	chr17:19770420-19771388	GM10847	blood:	n/a	n/a
17	MAX	chr17:19770181-19771535	H1-hESC	embryonic stem cell:	n/a	n/a
18	TAF1	chr17:19770188-19771569	H1-neurons	neurons:	n/a	n/a
19	GATA3	chr17:19770759-19771727	A549	lung:	n/a	n/a
20	POLR2A	chr17:19770063-19771490	ECC-1	luminal epithelium:	n/a	n/a
21	YY1	chr17:19770521-19771437	GM12891	blood:	n/a	chr17:19771204-19771213 chr17:19770764-19770778 chr17:19770966-19770980 chr17:19771152-19771161 chr17:19771175-19771186 chr17:19770940-19770951 chr17:19771175-19771184 chr17:19770731-19770745 chr17:19771201-19771210 chr17:19770959-19770970
22	POLR2A	chr17:19770379-19771580	HUVEC	blood vessel:	n/a	n/a
23	GABPA	chr17:19770214-19771509	H1-hESC	embryonic stem cell:	n/a	chr17:19770761-19770770 chr17:19770733-19770742
24	ZBTB7A	chr17:19769999-19770870	ECC-1	luminal epithelium:	n/a	n/a
25	POLR2A	chr17:19770074-19771622	HUVEC	blood vessel:	n/a	n/a
26	YY1	chr17:19770383-19771396	GM12892	blood:	n/a	chr17:19771204-19771213 chr17:19770764-19770778 chr17:19770966-19770980 chr17:19771152-19771161 chr17:19771175-19771186 chr17:19770940-19770951 chr17:19771175-19771184 chr17:19770731-19770745 chr17:19771201-19771210 chr17:19770959-19770970
27	TAF1	chr17:19770326-19771509	H1-hESC	embryonic stem cell:	n/a	n/a
28	ZEB1	chr17:19770206-19771415	GM12878	blood:	n/a	n/a
29	POLR2A	chr17:19770268-19771373	GM12878	blood:	n/a	n/a
30	POLR2A	chr17:19770153-19771483	GM18505	blood:	n/a	n/a
31	POLR2A	chr17:19770126-19771423	HEK293	kidney:	n/a	n/a
32	YY1	chr17:19770524-19770933	ECC-1	luminal epithelium:	n/a	chr17:19770764-19770778 chr17:19770731-19770745
33	TCF12	chr17:19770236-19770860	ECC-1	luminal epithelium:	n/a	n/a
34	POLR2A	chr17:19770268-19771580	Gliobla	brain:	n/a	n/a
35	E2F6	chr17:19770296-19771512	H1-hESC	embryonic stem cell:	n/a	chr17:19770963-19770973 chr17:19770882-19770897 chr17:19770733-19770742
36	EP300	chr17:19770054-19770775	A549	lung:	n/a	chr17:19770761-19770770
37	SIN3AK20	chr17:19769863-19770767	A549	lung:	n/a	n/a
38	POLR2A	chr17:19770210-19771518	PANC-1	pancreas:	n/a	n/a
39	MAX	chr17:19770192-19771596	MCF-7	breast:	n/a	n/a
40	CTCF	chr17:19770660-19770810	GM12868	blood:	n/a	n/a
41	CREB1	chr17:19770164-19771597	A549	lung:	n/a	n/a
42	POLR2A	chr17:19770163-19771708	H1-neurons	neurons:	n/a	n/a
43	YY1	chr17:19770139-19770790	A549	lung:	n/a	chr17:19770764-19770778 chr17:19770731-19770745
44	POLR2A	chr17:19770192-19771381	GM12891	blood:	n/a	n/a
45	HA-E2F1	chr17:19770207-19772105	MCF-7	breast:	n/a	chr17:19771947-19771954 chr17:19770963-19770973 chr17:19771947-19771954 chr17:19771947-19771954 chr17:19770733-19770742
46	MYC	chr17:19769773-19771389	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr17:19770245-19771581	ProgFib	skin:	n/a	n/a
48	YY1	chr17:19770543-19770900	GM12878	blood:	n/a	chr17:19770764-19770778 chr17:19770731-19770745
49	POLR2A	chr17:19770313-19771370	HCT-116	colon:	n/a	n/a
50	POLR2A	chr17:19770257-19771450	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:19770561..19771488-chr4:140374749..140375509,2	HCT-116	colon:
2	chr17:19769588..19772074-chr17:19879592..19882526,4	MCF-7	breast:
3	chr17:19769802..19772027-chr17:19799780..19804333,4	MCF-7	breast:
4	chr17:19752348..19754374-chr17:19768940..19771870,2	MCF-7	breast:
5	chr17:19769754..19773058-chr17:19878983..19882883,4	MCF-7	breast:
6	chr17:19770311..19771954-chr17:19910328..19912594,2	MCF-7	breast:

Variant related genes	Relation type
ULK2	TF binding region
ENSG00000083290	Chromatin interaction
ENSG00000172007	Chromatin interaction
ENSG00000108599	Chromatin interaction
ENSG00000270091	Chromatin interaction
ENSG00000273247	Chromatin interaction
ENSG00000261033	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062853	chr17:19547912-20206601	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv1063892	chr17:19564634-19808485	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv482398	chr17:19673458-19808039	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1057469	chr17:19696714-19787062	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv3371214	chr17:19768660-19773258	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv907868	chr17:19768924-20217122	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	esv3402031	chr17:19769585-19772133	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 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	chr17:19768600-19771400	Active TSS	GM12878-XiMat	blood
2	chr17:19769000-19771800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr17:19769200-19771400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr17:19769400-19771400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr17:19769400-19771400	Active TSS	Brain Anterior Caudate	brain
6	chr17:19769400-19771800	Active TSS	A549	lung
7	chr17:19769600-19771800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr17:19769800-19770800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr17:19769800-19770800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr17:19769800-19770800	Flanking Active TSS	HMEC	breast
11	chr17:19769800-19771000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr17:19769800-19771400	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr17:19769800-19771400	Active TSS	H1 Cell Line	embryonic stem cell
14	chr17:19769800-19771400	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr17:19769800-19771400	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr17:19769800-19771600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr17:19769800-19771600	Active TSS	H9 Cell Line	embryonic stem cell
18	chr17:19769800-19771600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr17:19769800-19771600	Active TSS	Muscle Satellite Cultured Cells	--
20	chr17:19769800-19771600	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr17:19769800-19771600	Active TSS	Fetal Intestine Large	intestine
22	chr17:19769800-19771600	Active TSS	Fetal Stomach	stomach
23	chr17:19769800-19771800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
24	chr17:19769800-19771800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr17:19769800-19771800	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr17:19769800-19771800	Active TSS	Ovary	ovary
27	chr17:19769800-19771800	Active TSS	Psoas Muscle	Psoas
28	chr17:19769800-19771800	Active TSS	Right Atrium	heart
29	chr17:19769800-19771800	Active TSS	HSMM	muscle
30	chr17:19769800-19771800	Active TSS	NHDF-Ad	bronchial
31	chr17:19769800-19772000	Active TSS	Brain Cingulate Gyrus	brain
32	chr17:19769800-19772000	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr17:19769800-19772200	Active TSS	Fetal Kidney	kidney
34	chr17:19769800-19772200	Active TSS	Fetal Lung	lung
35	chr17:19770000-19771000	Flanking Active TSS	Primary B cells from cord blood	blood
36	chr17:19770000-19771000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
37	chr17:19770000-19771200	Bivalent/Poised TSS	Thymus	Thymus
38	chr17:19770000-19771400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr17:19770000-19771400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr17:19770000-19771400	Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr17:19770000-19771400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr17:19770000-19771400	Active TSS	Esophagus	oesophagus
43	chr17:19770000-19771400	Active TSS	Pancreas	Pancrea
44	chr17:19770000-19771600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr17:19770000-19771600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr17:19770000-19771600	Flanking Active TSS	Primary hematopoietic stem cells	blood
47	chr17:19770000-19771600	Active TSS	Aorta	Aorta
48	chr17:19770000-19771600	Active TSS	Brain Angular Gyrus	brain
49	chr17:19770000-19771600	Active TSS	Left Ventricle	heart
50	chr17:19770000-19771600	Active TSS	Skeletal Muscle Female	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links