Variant report

Variant	rs8111746
Chromosome Location	chr19:39212859-39212860
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:50)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HNF4A	chr19:39212619-39213003	HepG2	liver:	n/a	n/a
2	POLR2A	chr19:39209094-39212892	U87	brain:	n/a	n/a
3	FOXA1	chr19:39212523-39213103	HepG2	liver:	n/a	n/a
4	RAD21	chr19:39212543-39213039	HepG2	liver:	n/a	chr19:39212895-39212909
5	POLR2A	chr19:39209073-39214530	K562	blood:	n/a	n/a
6	CHD2	chr19:39212800-39212872	HepG2	liver:	n/a	n/a
7	ZBTB7A	chr19:39212547-39213020	HepG2	liver:	n/a	n/a
8	POLR2A	chr19:39212730-39212971	HepG2	liver:	n/a	n/a
9	POLR2A	chr19:39209212-39215383	A549	lung:	n/a	n/a
10	EP300	chr19:39212524-39213014	HepG2	liver:	n/a	chr19:39212890-39212906
11	POLR2A	chr19:39212537-39213449	HepG2	liver:	n/a	n/a
12	POLR2A	chr19:39211920-39216610	K562	blood:	n/a	n/a
13	MXI1	chr19:39212680-39212972	HepG2	liver:	n/a	n/a
14	RAD21	chr19:39212707-39213073	HepG2	liver:	n/a	chr19:39212895-39212909
15	SP1	chr19:39212474-39213141	HepG2	liver:	n/a	n/a
16	FOXA1	chr19:39212546-39213118	HepG2	liver:	n/a	n/a
17	POLR2A	chr19:39209202-39214711	K562	blood:	n/a	n/a
18	TBP	chr19:39212709-39212959	HepG2	liver:	n/a	n/a
19	FOXA2	chr19:39212596-39213016	HepG2	liver:	n/a	n/a
20	FOXA1	chr19:39212498-39213082	HepG2	liver:	n/a	n/a
21	HNF4G	chr19:39212622-39212993	HepG2	liver:	n/a	n/a
22	HDAC2	chr19:39212427-39213040	HepG2	liver:	n/a	n/a
23	TEAD4	chr19:39212493-39213018	HepG2	liver:	n/a	n/a
24	HEY1	chr19:39212747-39212925	HepG2	liver:	n/a	n/a
25	POLR2A	chr19:39212680-39213026	HepG2	liver:	n/a	n/a
26	FOXA2	chr19:39212452-39213351	HepG2	liver:	n/a	n/a
27	POLR2A	chr19:39206681-39226302	PANC-1	pancreas:	n/a	n/a
28	POLR2A	chr19:39212750-39212939	HCT-116	colon:	n/a	n/a
29	EP300	chr19:39212475-39213086	HepG2	liver:	n/a	chr19:39212890-39212906
30	MYBL2	chr19:39212239-39213296	HepG2	liver:	n/a	n/a
31	YY1	chr19:39212518-39213079	HepG2	liver:	n/a	n/a
32	FOXA1	chr19:39212556-39213076	HepG2	liver:	n/a	n/a
33	FOSL2	chr19:39212606-39213150	HepG2	liver:	n/a	n/a
34	RAD21	chr19:39212614-39212898	HepG2	liver:	n/a	n/a
35	POLR2A	chr19:39212758-39212955	H1-hESC	embryonic stem cell:	n/a	n/a
36	SIN3AK20	chr19:39212254-39214531	PANC-1	pancreas:	n/a	n/a
37	POLR2A	chr19:39212841-39212939	MCF-7	breast:	n/a	n/a
38	HNF4A	chr19:39212672-39212984	HepG2	liver:	n/a	n/a
39	SMC3	chr19:39212771-39212999	HepG2	liver:	n/a	n/a
40	MBD4	chr19:39212573-39213068	HepG2	liver:	n/a	n/a
41	POLR2A	chr19:39212597-39212910	K562	blood:	n/a	n/a
42	ZBTB7A	chr19:39212472-39212994	HepG2	liver:	n/a	n/a
43	POLR2A	chr19:39211657-39215755	HepG2	liver:	n/a	n/a
44	CEBPD	chr19:39212680-39212951	HepG2	liver:	n/a	n/a
45	POLR2A	chr19:39212538-39213405	HepG2	liver:	n/a	n/a
46	MYBL2	chr19:39212495-39213125	HepG2	liver:	n/a	n/a
47	POLR2A	chr19:39209088-39212955	U87	brain:	n/a	n/a
48	POLR2A	chr19:39206712-39220782	PANC-1	pancreas:	n/a	n/a
49	MAZ	chr19:39212664-39212929	HepG2	liver:	n/a	n/a
50	HDAC2	chr19:39212524-39212972	HepG2	liver:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:39210217..39211879-chr19:39211993..39213574,2	MCF-7	breast:
2	chr19:39209590..39213111-chr19:39330256..39333147,3	MCF-7	breast:
3	chr19:39138734..39141158-chr19:39210569..39212913,2	MCF-7	breast:
4	chr19:39126170..39130709-chr19:39210922..39213805,4	MCF-7	breast:
5	chr19:39175103..39177399-chr19:39212567..39214104,2	K562	blood:
6	chr19:39139019..39141226-chr19:39211896..39214097,2	K562	blood:
7	chr19:39211320..39212875-chr19:39218472..39220478,2	K562	blood:
8	chr19:39205101..39207069-chr19:39211913..39213634,2	MCF-7	breast:
9	chr19:39212206..39230741-chr19:39336504..39344817,33	MCF-7	breast:
10	chr19:39185891..39187427-chr19:39211415..39213129,2	K562	blood:
11	chr19:39138189..39142372-chr19:39210085..39214804,5	MCF-7	breast:

No data

Variant related genes	Relation type
ACTN4	TF binding region
ENSG00000104824	Chromatin interaction
ENSG00000130402	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10403540	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10406778	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10415219	0.83[ASN][1000 genomes]
rs10415646	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10421560	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11083475	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12460849	0.80[ASN][1000 genomes]
rs12462270	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13343794	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16972767	0.84[ASN][1000 genomes]
rs2279144	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28488032	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28624276	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3745859	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3786835	0.84[ASN][1000 genomes]
rs3786839	0.90[EUR][1000 genomes]
rs3786845	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3786848	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3786851	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3810341	0.83[ASN][1000 genomes]
rs55876653	0.83[ASN][1000 genomes]
rs55945853	0.83[EUR][1000 genomes]
rs56113315	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56365761	0.83[ASN][1000 genomes]
rs62120083	0.82[EUR][1000 genomes]
rs62121814	0.84[ASN][1000 genomes]
rs62121816	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62121818	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7251903	0.91[EUR][1000 genomes]
rs7252589	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7254100	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs883394	0.94[EUR][1000 genomes]
rs883433	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs979971	0.83[ASN][1000 genomes]
rs979972	0.83[ASN][1000 genomes]

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	nsv833828	chr19:39084759-39257979	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1057899	chr19:39088319-39475493	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	nsv817834	chr19:39174332-39237950	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS 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	14 gene(s)	inside rSNPs	diseases
4	nsv911668	chr19:39174669-39291771	Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS 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	19 gene(s)	inside rSNPs	diseases
5	esv1826260	chr19:39178364-39248836	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	esv1837023	chr19:39190588-39425722	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
7	nsv911669	chr19:39196745-39231548	Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39182200-39214200	Genic enhancers	Fetal Muscle Trunk	muscle
2	chr19:39182200-39225200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr19:39186400-39213400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr19:39189400-39223400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr19:39189800-39222800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr19:39190000-39218400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr19:39190200-39222600	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr19:39190200-39222800	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr19:39190400-39217000	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr19:39190400-39218000	Strong transcription	Primary T cells from cord blood	blood
11	chr19:39190400-39222400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr19:39190400-39222600	Strong transcription	Dnd41	blood
13	chr19:39190600-39216400	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr19:39190600-39217000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr19:39190600-39219600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr19:39190600-39222800	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr19:39190800-39220400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr19:39190800-39222600	Strong transcription	Primary B cells from peripheral blood	blood
19	chr19:39190800-39222600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr19:39190800-39222800	Strong transcription	H1 Cell Line	embryonic stem cell
21	chr19:39190800-39223000	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr19:39190800-39223000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr19:39191000-39222400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
24	chr19:39191000-39222600	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr19:39191400-39218800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
26	chr19:39192400-39221200	Strong transcription	Sigmoid Colon	Sigmoid Colon
27	chr19:39199000-39215600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr19:39199000-39220400	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr19:39199400-39215400	Weak transcription	Fetal Kidney	kidney
30	chr19:39199800-39214600	Strong transcription	HUVEC	blood vessel
31	chr19:39200400-39217200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr19:39202800-39221400	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr19:39203400-39218600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr19:39204200-39223400	Strong transcription	H9 Cell Line	embryonic stem cell
35	chr19:39205000-39221000	Strong transcription	Duodenum Mucosa	Duodenum
36	chr19:39206800-39214200	Genic enhancers	Left Ventricle	heart
37	chr19:39206800-39220000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
38	chr19:39206800-39220000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr19:39207000-39213600	Genic enhancers	Pancreas	Pancrea
40	chr19:39207000-39214800	Genic enhancers	Right Ventricle	heart
41	chr19:39207000-39219400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr19:39207000-39220200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr19:39207000-39222400	Strong transcription	Fetal Brain Female	brain
44	chr19:39207400-39214400	Genic enhancers	A549	lung
45	chr19:39207800-39214800	Genic enhancers	Brain Inferior Temporal Lobe	brain
46	chr19:39208200-39214400	Genic enhancers	Fetal Intestine Small	intestine
47	chr19:39208400-39213000	Genic enhancers	Stomach Smooth Muscle	stomach
48	chr19:39208400-39214200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
49	chr19:39208400-39214400	Genic enhancers	Fetal Muscle Leg	muscle
50	chr19:39208600-39213400	Genic enhancers	Placenta	Placenta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links