Variant report

Variant	rs10099571
Chromosome Location	chr8:8285302-8285303
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	BHLHE40	chr8:8285203-8285486	HepG2	liver:	n/a	chr8:8285292-8285305 chr8:8285288-8285309
2	MAFK	chr8:8284983-8285775	HepG2	liver:	n/a	chr8:8285146-8285157
3	SP1	chr8:8285222-8285817	A549	lung:	n/a	n/a
4	MAZ	chr8:8285289-8285866	HepG2	liver:	n/a	chr8:8285293-8285304
5	MYBL2	chr8:8285009-8285573	HepG2	liver:	n/a	n/a
6	BHLHE40	chr8:8285206-8285429	K562	blood:	n/a	chr8:8285292-8285305 chr8:8285288-8285309
7	MAFF	chr8:8285230-8285768	HepG2	liver:	n/a	n/a
8	GATA3	chr8:8285196-8285519	T-47D	breast:	n/a	chr8:8285315-8285325
9	EP300	chr8:8285066-8285805	HepG2	liver:	n/a	chr8:8285313-8285327 chr8:8285203-8285217 chr8:8285195-8285209 chr8:8285201-8285215 chr8:8285317-8285326
10	HDAC2	chr8:8285212-8285811	HepG2	liver:	n/a	n/a
11	CEBPB	chr8:8285267-8285739	HepG2	liver:	n/a	n/a
12	JUND	chr8:8285223-8285801	HepG2	liver:	n/a	n/a
13	SP1	chr8:8285216-8285828	HepG2	liver:	n/a	n/a
14	BHLHE40	chr8:8284870-8286026	HepG2	liver:	n/a	chr8:8285292-8285305 chr8:8285288-8285309
15	USF2	chr8:8285217-8285431	HepG2	liver:	n/a	chr8:8285292-8285305 chr8:8285288-8285309
16	RXRA	chr8:8285203-8285767	HepG2	liver:	n/a	n/a
17	FOXA1	chr8:8285079-8285928	HepG2	liver:	n/a	n/a
18	TBP	chr8:8285193-8285807	HepG2	liver:	n/a	n/a
19	MAFK	chr8:8285037-8285765	HepG2	liver:	n/a	chr8:8285146-8285157
20	TEAD4	chr8:8285064-8285795	HepG2	liver:	n/a	n/a
21	TCF12	chr8:8285120-8285851	A549	lung:	n/a	chr8:8285452-8285459
22	SRF	chr8:8285188-8285444	HepG2	liver:	n/a	chr8:8285318-8285332 chr8:8285317-8285335 chr8:8285316-8285330 chr8:8285319-8285332 chr8:8285316-8285334 chr8:8285314-8285331
23	SRF	chr8:8285063-8285532	ECC-1	luminal epithelium:	n/a	chr8:8285318-8285332 chr8:8285317-8285335 chr8:8285316-8285330 chr8:8285319-8285332 chr8:8285316-8285334 chr8:8285314-8285331
24	ARID3A	chr8:8285133-8285725	HepG2	liver:	n/a	n/a
25	JUN	chr8:8285222-8285797	HepG2	liver:	n/a	chr8:8285625-8285638
26	FOXA1	chr8:8285081-8285827	HepG2	liver:	n/a	n/a
27	USF1	chr8:8285220-8285373	HepG2	liver:	n/a	chr8:8285292-8285305 chr8:8285288-8285309
28	SRF	chr8:8285085-8285510	HepG2	liver:	n/a	chr8:8285318-8285332 chr8:8285317-8285335 chr8:8285316-8285330 chr8:8285319-8285332 chr8:8285316-8285334 chr8:8285314-8285331
29	NFIC	chr8:8285179-8285688	HepG2	liver:	n/a	n/a
30	FOXA2	chr8:8285189-8285920	HepG2	liver:	n/a	n/a
31	EP300	chr8:8285156-8285840	HepG2	liver:	n/a	chr8:8285313-8285327 chr8:8285203-8285217 chr8:8285195-8285209 chr8:8285201-8285215 chr8:8285317-8285326
32	FOXA1	chr8:8285067-8285658	HepG2	liver:	n/a	n/a
33	SETDB1	chr8:8285209-8285639	U2OS	brain:	n/a	n/a
34	FOXA1	chr8:8285202-8285606	HepG2	liver:	n/a	n/a
35	BHLHE40	chr8:8285152-8285676	HepG2	liver:	n/a	chr8:8285292-8285305 chr8:8285288-8285309
36	NFIC	chr8:8285058-8285844	HepG2	liver:	n/a	n/a
37	EP300	chr8:8285220-8285735	HepG2	liver:	n/a	chr8:8285313-8285327 chr8:8285317-8285326

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:8281489..8283205-chr8:8283537..8285806,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253505	TF binding region
ENSG00000253505	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10101904	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10110708	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10503376	1.00[ASN][1000 genomes]
rs11989467	1.00[ASN][1000 genomes]
rs11991607	1.00[ASN][1000 genomes]
rs13248908	1.00[CHB][hapmap];0.83[YRI][hapmap];0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13251924	1.00[ASN][1000 genomes]
rs13253870	1.00[ASN][1000 genomes]
rs13259482	1.00[ASN][1000 genomes]
rs13262476	1.00[ASN][1000 genomes]
rs13280653	1.00[CHB][hapmap]
rs17594093	1.00[CHB][hapmap]
rs17604776	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17607697	1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17617027	1.00[ASN][1000 genomes]
rs17669632	1.00[ASN][1000 genomes]
rs17670522	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2976956	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2976958	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs34353415	1.00[ASN][1000 genomes]
rs34419947	1.00[ASN][1000 genomes]
rs35144760	1.00[ASN][1000 genomes]
rs35190619	1.00[ASN][1000 genomes]
rs4840966	1.00[ASN][1000 genomes]
rs4840969	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4840970	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4840971	1.00[ASN][1000 genomes]
rs4840975	1.00[ASN][1000 genomes]
rs55817265	1.00[ASN][1000 genomes]
rs60027965	1.00[ASN][1000 genomes]
rs6601693	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs66469655	1.00[ASN][1000 genomes]
rs6991227	1.00[ASN][1000 genomes]
rs6998115	1.00[ASN][1000 genomes]
rs7007943	1.00[ASN][1000 genomes]
rs7014601	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.88[LWK][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71513198	1.00[ASN][1000 genomes]
rs73184334	1.00[ASN][1000 genomes]
rs73523411	1.00[ASN][1000 genomes]
rs882687	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers 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	43 gene(s)	inside rSNPs	diseases
2	nsv465448	chr8:8098079-8403142	Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv610152	chr8:8098079-8403142	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv610153	chr8:8098079-8454531	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv610154	chr8:8101641-8328101	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv1025994	chr8:8108863-8580201	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv1029268	chr8:8130629-8403435	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv539446	chr8:8130629-8403435	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv1030433	chr8:8130629-8653691	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv539447	chr8:8130629-8653691	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
11	nsv831227	chr8:8204838-8367160	Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv1033463	chr8:8221922-8674333	Weak transcription Bivalent/Poised TSS Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
13	nsv539451	chr8:8221922-8674333	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
14	nsv1019613	chr8:8239352-8636357	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
15	nsv539452	chr8:8239352-8636357	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
16	nsv465449	chr8:8262897-8362710	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	nsv610158	chr8:8262897-8362710	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	nsv6071	chr8:8269444-8304320	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
19	nsv1022784	chr8:8271462-8309864	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
20	nsv539453	chr8:8271462-8309864	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
21	nsv465451	chr8:8273043-8311298	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
22	nsv610159	chr8:8273043-8311298	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
23	nsv610160	chr8:8285302-8290350	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
24	nsv8285	chr8:8285302-8291207	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10099571	TDH	cis	cerebellum	SCAN
rs10099571	MSRA	cis	cerebellum	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8273200-8289400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr8:8275400-8286000	Weak transcription	Gastric	stomach
3	chr8:8277200-8286600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:8277600-8285400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr8:8281800-8285600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr8:8283800-8286200	Enhancers	Fetal Intestine Large	intestine
7	chr8:8284000-8287600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:8284200-8285400	Weak transcription	HSMMtube	muscle
9	chr8:8284200-8286200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:8284200-8287000	Enhancers	Fetal Kidney	kidney
11	chr8:8284600-8285800	Enhancers	Rectal Mucosa Donor 29	rectum
12	chr8:8284600-8287400	Enhancers	Stomach Mucosa	stomach
13	chr8:8284800-8285400	Enhancers	Pancreas	Pancrea
14	chr8:8284800-8285800	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr8:8284800-8285800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr8:8284800-8285800	Enhancers	Duodenum Mucosa	Duodenum
17	chr8:8284800-8286400	Enhancers	Fetal Intestine Small	intestine
18	chr8:8285000-8285400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:8285000-8285600	Enhancers	Brain Germinal Matrix	brain
20	chr8:8285000-8285800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr8:8285000-8285800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr8:8285000-8285800	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr8:8285000-8286000	Flanking Active TSS	HepG2	liver
24	chr8:8285000-8287200	Enhancers	Fetal Lung	lung
25	chr8:8285200-8285600	Flanking Active TSS	A549	lung
26	chr8:8285200-8285800	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr8:8285200-8285800	Enhancers	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links