Variant report

Variant	rs35117389
Chromosome Location	chr19:55888156-55888157
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:39)
CpG islands
(count:183)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:39 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr19:55887659-55888308	Hela-S3	cervix:	n/a	n/a
2	RCOR1	chr19:55887925-55888243	K562	blood:	n/a	n/a
3	BACH1	chr19:55887886-55888195	H1-hESC	embryonic stem cell:	n/a	n/a
4	CBX3	chr19:55887887-55888175	K562	blood:	n/a	n/a
5	SIN3A	chr19:55888090-55888267	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr19:55887638-55888694	HCT-116	colon:	n/a	n/a
7	RCOR1	chr19:55887869-55888205	Hela-S3	cervix:	n/a	n/a
8	RFX5	chr19:55887640-55888182	H1-hESC	embryonic stem cell:	n/a	chr19:55888154-55888169 chr19:55888158-55888167 chr19:55888102-55888116 chr19:55888104-55888113 chr19:55887788-55887802 chr19:55887790-55887799
9	MXI1	chr19:55888058-55888169	K562	blood:	n/a	chr19:55888098-55888113
10	SMC3	chr19:55887793-55888319	Hela-S3	cervix:	n/a	n/a
11	HMGN3	chr19:55888126-55888295	K562	blood:	n/a	n/a
12	E2F6	chr19:55887912-55888161	K562	blood:	n/a	chr19:55888145-55888154
13	USF2	chr19:55887595-55888501	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr19:55887866-55888482	ECC-1	luminal epithelium:	n/a	n/a
15	ZBTB7A	chr19:55887832-55888256	K562	blood:	n/a	n/a
16	POLR2A	chr19:55887683-55890271	K562	blood:	n/a	n/a
17	CHD2	chr19:55887562-55888473	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr19:55887850-55888228	A549	lung:	n/a	n/a
19	POLR2A	chr19:55886621-55888453	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr19:55887488-55888679	HCT-116	colon:	n/a	n/a
21	RFX5	chr19:55888079-55888215	HepG2	liver:	n/a	chr19:55888154-55888169 chr19:55888158-55888167 chr19:55888102-55888116 chr19:55888104-55888113
22	POLR2A	chr19:55886716-55888470	Raji	blood:	n/a	n/a
23	POLR2A	chr19:55887804-55888191	ECC-1	luminal epithelium:	n/a	n/a
24	POLR2A	chr19:55886648-55888314	MCF10A-Er-Src	breast:	n/a	n/a
25	PBX3	chr19:55887900-55888519	A549	lung:	n/a	n/a
26	MAZ	chr19:55887812-55888298	K562	blood:	n/a	n/a
27	BCL3	chr19:55887893-55888448	A549	lung:	n/a	n/a
28	MAX	chr19:55887797-55888242	K562	blood:	n/a	n/a
29	POLR2A	chr19:55886597-55891051	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr19:55886445-55889249	Hela-S3	cervix:	n/a	n/a
31	PBX3	chr19:55887894-55888634	A549	lung:	n/a	n/a
32	POLR2A	chr19:55887790-55888302	Hela-S3	cervix:	n/a	n/a
33	RFX5	chr19:55887598-55888272	Hela-S3	cervix:	n/a	chr19:55888154-55888169 chr19:55888158-55888167 chr19:55888102-55888116 chr19:55888104-55888113 chr19:55887788-55887802 chr19:55887790-55887799
34	POLR2A	chr19:55888031-55888330	A549	lung:	n/a	n/a
35	ELK1	chr19:55888062-55888329	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr19:55887855-55888416	MCF-7	breast:	n/a	n/a
37	MAX	chr19:55887867-55888221	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr19:55887762-55888439	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr19:55886752-55888495	MCF-7	breast:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:55888150-55888200	HCF	heart:	n/a
2	chr19:55888156-55888206	SKMC	muscle:	n/a
3	chr19:55888156-55888206	U87	brain:	n/a
4	chr19:55888150-55888200	HRPEpiC	eye:	n/a
5	chr19:55888150-55888200	AG10803	skin:	n/a
6	chr19:55888146-55888196	HRCEpiC	kidney:	n/a
7	chr19:55888156-55888206	SK-N-SH_RA	brain:	n/a
8	chr19:55888156-55888206	ovcar-3	ovarian:	n/a
9	chr19:55888156-55888206	PANC-1	pancreas:	n/a
10	chr19:55888150-55888200	MCF10A-Er-Src	breast:	n/a
11	chr19:55888156-55888206	RPTEC	kidney:	n/a
12	chr19:55888150-55888200	GM19239	blood:	n/a
13	chr19:55888150-55888200	HRE	kidney:	n/a
14	chr19:55888156-55888206	LNCaP	prostate:	n/a
15	chr19:55888146-55888196	NHBE	bronchial:	n/a
16	chr19:55888150-55888200	HCPEpiC	choroid plexus:	n/a
17	chr19:55888146-55888196	LNCaP	prostate:	n/a
18	chr19:55888156-55888206	HIPEpiC	eye:	n/a
19	chr19:55888146-55888196	SKMC	muscle:	n/a
20	chr19:55888146-55888196	PANC-1	pancreas:	n/a
21	chr19:55888146-55888196	AG09319	gingival:	n/a
22	chr19:55888146-55888196	Jurkat	blood:	n/a
23	chr19:55888150-55888200	ProgFib	skin:	n/a
24	chr19:55888156-55888206	Hela-S3	cervix:	n/a
25	chr19:55888150-55888200	U87	brain:	n/a
26	chr19:55888146-55888196	CMK	blood:	n/a
27	chr19:55888150-55888200	GM12891	blood:	n/a
28	chr19:55888150-55888200	SK-N-SH	brain:	n/a
29	chr19:55888156-55888206	HepG2	liver:	n/a
30	chr19:55888146-55888196	HMEC	breast:	n/a
31	chr19:55888150-55888200	RPTEC	kidney:	n/a
32	chr19:55888150-55888200	GM06990	blood:	n/a
33	chr19:55888150-55888200	T-47D	breast:	n/a
34	chr19:55888150-55888200	PrEC	prostate:	n/a
35	chr19:55888150-55888200	Hepatocyte	liver:	n/a
36	chr19:55888156-55888206	AG09319	gingival:	n/a
37	chr19:55888156-55888206	HEK293	kidney:	embryo
38	chr19:55888150-55888200	PFSK-1	brain:	n/a
39	chr19:55888150-55888200	ovcar-3	ovarian:	n/a
40	chr19:55888156-55888206	HRE	kidney:	n/a
41	chr19:55888146-55888196	SK-N-SH_RA	brain:	n/a
42	chr19:55888146-55888196	ProgFib	skin:	n/a
43	chr19:55888146-55888196	Hela-S3	cervix:	n/a
44	chr19:55888156-55888206	HL-60	blood:	n/a
45	chr19:55888156-55888206	H1-hESC	embryonic stem cell:	embryo
46	chr19:55888150-55888200	IMR90	lung:	fetal
47	chr19:55888146-55888196	SK-N-SH	brain:	n/a
48	chr19:55888146-55888196	RPTEC	kidney:	n/a
49	chr19:55888146-55888196	HPAEpiC	pulmonary alveolar:	n/a
50	chr19:55888146-55888196	GM12878	blood:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:55880628..55883032-chr19:55887908..55889776,2	K562	blood:
2	chr19:55880381..55884285-chr19:55886063..55890457,4	K562	blood:
3	chr19:55855835..55857937-chr19:55888038..55890020,2	K562	blood:

No data

Variant related genes	Relation type
TMEM190	TF binding region
TMEM190	CpG island
ENSG00000133247	Chromatin interaction
ENSG00000095752	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1126757	0.84[ASN][1000 genomes]
rs11672008	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2305786	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35791293	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4252546	0.85[ASN][1000 genomes]
rs4806665	0.85[ASN][1000 genomes]
rs4806666	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1816335	chr19:55683977-55901099	Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv1065760	chr19:55721521-55929740	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
3	nsv912456	chr19:55725410-55925500	Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
4	nsv912457	chr19:55725410-56019597	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	228 gene(s)	inside rSNPs	diseases
5	nsv432086	chr19:55807586-56050844	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	220 gene(s)	inside rSNPs	diseases
6	nsv912460	chr19:55814881-55897327	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
7	nsv912461	chr19:55845386-55897327	Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
8	nsv470162	chr19:55845386-55902257	Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
9	nsv912462	chr19:55845386-55925500	Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
10	nsv912463	chr19:55845386-56004901	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
11	nsv912464	chr19:55850269-55921164	Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
12	nsv516199	chr19:55854313-55901099	Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
13	nsv912465	chr19:55854313-55935184	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
14	nsv912469	chr19:55872591-55888598	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
15	nsv912470	chr19:55872591-55897170	Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	79 gene(s)	inside rSNPs	diseases
16	nsv912472	chr19:55873726-55888598	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
17	nsv912473	chr19:55874642-56145428	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
18	nsv912475	chr19:55874986-55888598	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
19	nsv544085	chr19:55875808-55911275	Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
20	nsv912476	chr19:55876747-55897327	Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	91 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs35117389	TMEM190	cis	lung	GTEx

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55881400-55894800	Weak transcription	Right Atrium	heart
2	chr19:55883200-55890000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr19:55883800-55888800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr19:55883800-55889200	Bivalent Enhancer	Fetal Stomach	stomach
5	chr19:55884000-55890800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr19:55885800-55888200	Weak transcription	Pancreas	Pancrea
7	chr19:55885800-55888400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr19:55885800-55888800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr19:55885800-55891600	Enhancers	HSMM	muscle
10	chr19:55886200-55889200	Weak transcription	HSMMtube	muscle
11	chr19:55886200-55890000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr19:55886800-55888200	Bivalent Enhancer	Stomach Mucosa	stomach
13	chr19:55886800-55888200	Enhancers	K562	blood
14	chr19:55886800-55888800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr19:55886800-55891000	Bivalent Enhancer	Placenta	Placenta
16	chr19:55887000-55888200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr19:55887000-55888200	Flanking Active TSS	Hela-S3	cervix
18	chr19:55887000-55888600	Bivalent Enhancer	Fetal Intestine Small	intestine
19	chr19:55887000-55889200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr19:55887000-55891600	Bivalent Enhancer	Fetal Muscle Leg	muscle
21	chr19:55887000-55893600	Weak transcription	GM12878-XiMat	blood
22	chr19:55887200-55888200	Enhancers	H1 Cell Line	embryonic stem cell
23	chr19:55887400-55888600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr19:55887600-55888200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
25	chr19:55887600-55888200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr19:55887600-55888400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
27	chr19:55887600-55888400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
28	chr19:55887600-55888600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr19:55887600-55889000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
30	chr19:55887600-55889600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr19:55887800-55888200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
32	chr19:55887800-55888200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
33	chr19:55887800-55888400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr19:55887800-55888400	Enhancers	NH-A	brain
35	chr19:55887800-55888800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
36	chr19:55887800-55889000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr19:55887800-55889000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
38	chr19:55887800-55889000	Weak transcription	Lung	lung
39	chr19:55887800-55889600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr19:55888000-55888200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr19:55888000-55888200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr19:55888000-55888200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr19:55888000-55888400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
44	chr19:55888000-55888400	Flanking Active TSS	A549	lung
45	chr19:55888000-55888800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr19:55888000-55888800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr19:55888000-55889200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr19:55888000-55889200	Flanking Active TSS	HepG2	liver
49	chr19:55888000-55889600	Active TSS	H9 Cell Line	embryonic stem cell
50	chr19:55888000-55894000	Weak transcription	Esophagus	oesophagus

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