Variant report

Variant	rs8100735
Chromosome Location	chr19:36129952-36129953
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:54)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:54 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:36129731-36130244	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr19:36129833-36130083	HCT-116	colon:	n/a	n/a
3	POLR2A	chr19:36129033-36131166	SK-N-MC	brain:	n/a	n/a
4	POLR2A	chr19:36129811-36130505	ECC-1	luminal epithelium:	n/a	n/a
5	POLR2A	chr19:36129751-36130503	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr19:36129719-36130833	PANC-1	pancreas:	n/a	n/a
7	SP1	chr19:36129806-36130250	H1-hESC	embryonic stem cell:	n/a	chr19:36130192-36130201 chr19:36129870-36129879
8	BCL3	chr19:36129715-36131188	A549	lung:	n/a	chr19:36130151-36130160
9	POLR2A	chr19:36129803-36130995	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr19:36129913-36131012	MCF10A-Er-Src	breast:	n/a	n/a
11	CREB1	chr19:36129856-36130480	H1-hESC	embryonic stem cell:	n/a	n/a
12	PML	chr19:36129936-36130348	GM12878	blood:	n/a	n/a
13	POLR2A	chr19:36129848-36130523	GM12878	blood:	n/a	n/a
14	JUND	chr19:36129817-36130531	A549	lung:	n/a	chr19:36130105-36130114
15	POLR2A	chr19:36129830-36130465	GM12878	blood:	n/a	n/a
16	POLR2A	chr19:36129907-36130611	GM12878	blood:	n/a	n/a
17	BCL3	chr19:36129797-36131079	A549	lung:	n/a	chr19:36130151-36130160
18	POLR2A	chr19:36129818-36130463	A549	lung:	n/a	n/a
19	POLR2A	chr19:36129787-36130553	GM12891	blood:	n/a	n/a
20	POLR2A	chr19:36129714-36130024	K562	blood:	n/a	n/a
21	POLR2A	chr19:36129700-36130538	K562	blood:	n/a	n/a
22	ZNF384	chr19:36129552-36130269	K562	blood:	n/a	n/a
23	POLR2A	chr19:36129590-36130413	PFSK-1	brain:	n/a	n/a
24	POLR2A	chr19:36129663-36130681	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr19:36129814-36130561	GM12891	blood:	n/a	n/a
26	EP300	chr19:36129881-36130362	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr19:36129774-36130627	GM12892	blood:	n/a	n/a
28	ZBTB7A	chr19:36129881-36130337	ECC-1	luminal epithelium:	n/a	n/a
29	ATF2	chr19:36129870-36130267	H1-hESC	embryonic stem cell:	n/a	chr19:36130102-36130116
30	POLR2A	chr19:36129937-36130174	MCF-7	breast:	n/a	n/a
31	POLR2A	chr19:36129367-36130964	HepG2	liver:	n/a	n/a
32	CREB1	chr19:36129808-36130448	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr19:36129732-36130213	GM12892	blood:	n/a	n/a
34	TAF1	chr19:36129822-36130304	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr19:36129812-36130544	GM12891	blood:	n/a	n/a
36	POLR2A	chr19:36129831-36130067	A549	lung:	n/a	n/a
37	POLR2A	chr19:36129825-36130175	A549	lung:	n/a	n/a
38	MTA3	chr19:36129821-36130286	GM12878	blood:	n/a	n/a
39	POLR2A	chr19:36129877-36130669	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr19:36128128-36131051	K562	blood:	n/a	n/a
41	POLR2A	chr19:36129874-36131094	A549	lung:	n/a	n/a
42	POLR2A	chr19:36129822-36130685	ECC-1	luminal epithelium:	n/a	n/a
43	POLR2A	chr19:36129677-36130516	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr19:36129853-36130533	HL-60	blood:	n/a	n/a
45	POLR2A	chr19:36129644-36130568	K562	blood:	n/a	n/a
46	JUND	chr19:36129927-36130251	H1-hESC	embryonic stem cell:	n/a	chr19:36130105-36130114
47	POLR2A	chr19:36129571-36131186	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr19:36129774-36130539	GM12892	blood:	n/a	n/a
49	POLR2A	chr19:36129886-36131017	GM12878	blood:	n/a	n/a
50	POLR2A	chr19:36129838-36130514	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:36118444..36125285-chr19:36125367..36133017,11	MCF-7	breast:
2	chr19:36118572..36120760-chr19:36128325..36130152,2	MCF-7	breast:

No data

Variant related genes	Relation type
ETV2	TF binding region
ENSG00000126254	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10410294	0.91[CHB][hapmap];0.93[CHD][hapmap]
rs10415676	0.82[ASN][1000 genomes]
rs10439089	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12461025	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1858844	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1989801	1.00[ASW][hapmap];0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.96[MEX][hapmap];0.98[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2285413	0.82[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.84[GIH][hapmap];0.87[TSI][hapmap];0.83[ASN][1000 genomes]
rs3814983	0.82[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.84[GIH][hapmap];0.87[TSI][hapmap];0.82[ASN][1000 genomes]
rs3826999	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4447555	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6510501	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8106576	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8107941	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs8113090	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1060100	chr19:35658505-36170042	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS 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	107 gene(s)	inside rSNPs	diseases
3	nsv543993	chr19:35658505-36170042	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
4	nsv911629	chr19:36122886-36136449	Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs8100735	TMEM91	cis	cerebellum	SCAN
rs8100735	LTBP4	cis	parietal	SCAN
rs8100735	CNFN	cis	cerebellum	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36120800-36132400	Weak transcription	Fetal Heart	heart
2	chr19:36120800-36134000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr19:36121800-36130600	Strong transcription	Fetal Brain Female	brain
4	chr19:36122200-36132800	Weak transcription	Stomach Mucosa	stomach
5	chr19:36123000-36134000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr19:36123400-36133600	Weak transcription	Fetal Brain Male	brain
7	chr19:36123600-36132200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr19:36123800-36130000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr19:36124000-36132200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr19:36124200-36134000	Weak transcription	Psoas Muscle	Psoas
11	chr19:36128000-36134000	Weak transcription	HSMM	muscle
12	chr19:36128000-36134400	Weak transcription	Fetal Kidney	kidney
13	chr19:36128200-36132000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr19:36128400-36132200	Weak transcription	Primary B cells from cord blood	blood
15	chr19:36128400-36132200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr19:36128400-36132400	Weak transcription	NH-A	brain
17	chr19:36128800-36132200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr19:36128800-36132200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr19:36129000-36130200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr19:36129000-36132200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr19:36129000-36132200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr19:36129000-36132200	Weak transcription	Small Intestine	intestine
23	chr19:36129000-36132200	Weak transcription	HMEC	breast
24	chr19:36129000-36132200	Weak transcription	NHDF-Ad	bronchial
25	chr19:36129000-36132400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr19:36129000-36132400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr19:36129000-36132400	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr19:36129000-36132400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr19:36129000-36132800	Weak transcription	Colonic Mucosa	Colon
30	chr19:36129000-36133200	Weak transcription	Duodenum Mucosa	Duodenum
31	chr19:36129000-36133400	Weak transcription	Esophagus	oesophagus
32	chr19:36129000-36133600	Weak transcription	Colon Smooth Muscle	Colon
33	chr19:36129000-36133800	Weak transcription	Rectal Smooth Muscle	rectum
34	chr19:36129000-36133800	Weak transcription	Hela-S3	cervix
35	chr19:36129000-36134000	Weak transcription	Aorta	Aorta
36	chr19:36129000-36134000	Weak transcription	Brain Cingulate Gyrus	brain
37	chr19:36129000-36134000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr19:36129000-36134000	Weak transcription	Brain Substantia Nigra	brain
39	chr19:36129000-36134000	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr19:36129000-36134200	Weak transcription	Brain Angular Gyrus	brain
41	chr19:36129000-36134200	Weak transcription	HSMMtube	muscle
42	chr19:36129200-36130000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr19:36129200-36130200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr19:36129200-36132200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr19:36129200-36132200	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr19:36129200-36132200	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr19:36129200-36132200	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr19:36129200-36132200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr19:36129200-36132200	Weak transcription	HUVEC	blood vessel
50	chr19:36129200-36132400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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