Variant report

Variant	rs59257214
Chromosome Location	chr8:8870862-8870863
allele	C/T
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	GATA3	chr8:8870717-8871245	T-47D	breast:	n/a	chr8:8871082-8871090
2	HDAC2	chr8:8870787-8871267	MCF-7	breast:	n/a	n/a
3	TCF7L2	chr8:8870801-8871191	MCF-7	breast:	n/a	n/a
4	GATA3	chr8:8870715-8871439	MCF-7	breast:	n/a	chr8:8871082-8871090
5	NR2F2	chr8:8870851-8871337	K562	blood:	n/a	n/a
6	JUND	chr8:8870852-8871259	K562	blood:	n/a	n/a
7	EP300	chr8:8870860-8871328	K562	blood:	n/a	n/a
8	GATA3	chr8:8870712-8871416	SK-N-SH	brain:	n/a	chr8:8871082-8871090
9	GATA3	chr8:8870851-8871242	MCF-7	breast:	n/a	chr8:8871082-8871090
10	EP300	chr8:8870763-8871634	SK-N-SH_RA	brain:	n/a	n/a
11	ESR1	chr8:8870837-8871118	T-47D	breast:	n/a	n/a
12	POLR2A	chr8:8863320-8872107	K562	blood:	n/a	n/a
13	GATA3	chr8:8870837-8871238	T-47D	breast:	n/a	chr8:8871082-8871090
14	GATA3	chr8:8870779-8871763	SK-N-SH	brain:	n/a	chr8:8871082-8871090
15	NR2F2	chr8:8870758-8871452	MCF-7	breast:	n/a	n/a
16	SIN3AK20	chr8:8870679-8871379	MCF-7	breast:	n/a	n/a
17	EP300	chr8:8870708-8871271	MCF-7	breast:	n/a	n/a
18	GATA3	chr8:8870623-8871498	MCF-7	breast:	n/a	chr8:8871082-8871090
19	EP300	chr8:8870858-8871599	SK-N-SH_RA	brain:	n/a	n/a
20	ZNF384	chr8:8870824-8871024	K562	blood:	n/a	n/a
21	ESR1	chr8:8870826-8871106	T-47D	breast:	n/a	n/a
22	ZNF217	chr8:8870770-8871236	MCF-7	breast:	n/a	n/a
23	GATA2	chr8:8870834-8871854	HUVEC	blood vessel:	n/a	n/a
24	RCOR1	chr8:8870832-8871487	K562	blood:	n/a	n/a
25	SP1	chr8:8870792-8872981	HCT-116	colon:	n/a	n/a
26	TEAD4	chr8:8870783-8871356	K562	blood:	n/a	n/a
27	NR2F2	chr8:8870731-8871334	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:8859811..8861702-chr8:8869833..8872508,3	MCF-7	breast:
2	chr8:8859158..8867027-chr8:8867199..8874373,17	K562	blood:

Variant related genes	Relation type
ERI1	TF binding region
ENSG00000104626	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10091588	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1036082	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11774244	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11775788	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11779660	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11779804	1.00[ASN][1000 genomes]
rs11780338	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11780774	1.00[ASN][1000 genomes]
rs11781203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11784750	1.00[ASN][1000 genomes]
rs13250781	1.00[ASN][1000 genomes]
rs13277114	1.00[ASN][1000 genomes]
rs1530484	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17646197	1.00[ASN][1000 genomes]
rs17700611	1.00[ASN][1000 genomes]
rs17701980	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28510464	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28520356	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28572014	1.00[ASN][1000 genomes]
rs34293316	1.00[ASN][1000 genomes]
rs4840376	1.00[ASN][1000 genomes]
rs4840391	1.00[ASN][1000 genomes]
rs55824072	1.00[ASN][1000 genomes]
rs56109025	1.00[ASN][1000 genomes]
rs56349323	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56400435	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57280925	1.00[ASN][1000 genomes]
rs59041878	1.00[ASN][1000 genomes]
rs60551984	1.00[ASN][1000 genomes]
rs61397430	1.00[ASN][1000 genomes]
rs61730232	1.00[ASN][1000 genomes]
rs62492947	1.00[ASN][1000 genomes]
rs62493174	1.00[ASN][1000 genomes]
rs62495491	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62495539	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6981610	1.00[ASN][1000 genomes]
rs6981745	1.00[ASN][1000 genomes]
rs6982619	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6987569	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6996374	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6998594	0.84[EUR][1000 genomes]
rs7001187	1.00[ASN][1000 genomes]
rs73518330	1.00[ASN][1000 genomes]
rs73518392	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7357482	1.00[ASN][1000 genomes]
rs73662247	1.00[ASN][1000 genomes]
rs7822129	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7826478	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7828944	1.00[ASN][1000 genomes]
rs7830266	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7843024	1.00[ASN][1000 genomes]
rs7843154	1.00[ASN][1000 genomes]
rs7843369	1.00[ASN][1000 genomes]
rs7843789	1.00[ASN][1000 genomes]
rs7846007	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs895253	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9329175	1.00[ASN][1000 genomes]
rs9329176	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9987276	0.85[AMR][1000 genomes];0.96[EUR][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	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	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv831229	chr8:8751523-8926235	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv610205	chr8:8799111-8891644	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	n/a
5	nsv1022468	chr8:8857853-9209167	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv539460	chr8:8857853-9209167	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv817373	chr8:8857854-9361049	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs59257214	THEX1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8861200-8892400	Weak transcription	Aorta	Aorta
2	chr8:8861400-8907000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:8861600-8876200	Weak transcription	Esophagus	oesophagus
4	chr8:8861600-8878600	Weak transcription	Colon Smooth Muscle	Colon
5	chr8:8861600-8885600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:8861800-8871000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr8:8861800-8871000	Weak transcription	HSMMtube	muscle
8	chr8:8861800-8871400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr8:8861800-8871600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr8:8861800-8874800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr8:8861800-8875000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr8:8861800-8875000	Weak transcription	Gastric	stomach
13	chr8:8861800-8877800	Weak transcription	Right Ventricle	heart
14	chr8:8861800-8881800	Weak transcription	Fetal Kidney	kidney
15	chr8:8861800-8883400	Weak transcription	Spleen	Spleen
16	chr8:8861800-8883600	Weak transcription	Small Intestine	intestine
17	chr8:8861800-8885200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr8:8861800-8887200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr8:8861800-8887400	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr8:8861800-8890000	Weak transcription	Stomach Smooth Muscle	stomach
21	chr8:8861800-8891400	Weak transcription	Brain Angular Gyrus	brain
22	chr8:8861800-8891800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr8:8861800-8892000	Weak transcription	Brain Anterior Caudate	brain
24	chr8:8861800-8892200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr8:8861800-8892200	Weak transcription	Ovary	ovary
26	chr8:8861800-8893800	Weak transcription	Fetal Brain Male	brain
27	chr8:8861800-8897800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr8:8861800-8915600	Weak transcription	Pancreas	Pancrea
29	chr8:8862400-8874400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr8:8864600-8871000	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr8:8864600-8871200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr8:8865000-8871600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr8:8865200-8871000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr8:8865400-8871000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr8:8865400-8872000	Strong transcription	Dnd41	blood
36	chr8:8865400-8878800	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr8:8865400-8886000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr8:8865800-8871000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr8:8865800-8879600	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr8:8866200-8871600	Strong transcription	Primary B cells from peripheral blood	blood
41	chr8:8866800-8872800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr8:8867000-8874200	Weak transcription	Brain Germinal Matrix	brain
43	chr8:8867200-8872000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr8:8867600-8871000	Weak transcription	HMEC	breast
45	chr8:8867800-8874800	Weak transcription	Duodenum Mucosa	Duodenum
46	chr8:8868400-8871200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr8:8868600-8875000	Weak transcription	Brain Substantia Nigra	brain
48	chr8:8868800-8871200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr8:8868800-8872000	Strong transcription	Fetal Muscle Leg	muscle
50	chr8:8868800-8872600	Enhancers	NHLF	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links