Variant report

Variant	rs1430931
Chromosome Location	chr8:8867563-8867564
allele	A/C
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	IRF1	chr8:8867307-8870229	K562	blood:	n/a	chr8:8867842-8867853 chr8:8869776-8869785 chr8:8868594-8868614 chr8:8868056-8868070 chr8:8869777-8869786 chr8:8868054-8868068 chr8:8869449-8869460
2	POLR2A	chr8:8863320-8872107	K562	blood:	n/a	n/a
3	ARID3A	chr8:8867235-8868859	K562	blood:	n/a	chr8:8868132-8868148
4	JUND	chr8:8867285-8867829	K562	blood:	n/a	n/a
5	POLR2A	chr8:8867194-8867784	K562	blood:	n/a	n/a
6	MYC	chr8:8867336-8867636	K562	blood:	n/a	n/a
7	ZMIZ1	chr8:8867294-8867920	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:8866297..8868833-chr8:8887524..8890339,2	K562	blood:
2	chr8:8859707..8862059-chr8:8864809..8869173,3	MCF-7	breast:
3	chr8:8865815..8868518-chr8:8878395..8880602,2	K562	blood:
4	chr8:8865434..8867706-chr8:8868292..8869978,2	MCF-7	breast:
5	chr8:8859472..8863506-chr8:8866779..8870820,4	MCF-7	breast:
6	chr8:8866252..8868654-chr8:8871206..8873425,2	MCF-7	breast:
7	chr8:8859158..8867027-chr8:8867199..8874373,17	K562	blood:
8	chr8:8748349..8752697-chr8:8864961..8869329,4	K562	blood:

Variant related genes	Relation type
ERI1	TF binding region
ENSG00000147324	Chromatin interaction
ENSG00000104626	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs1016512	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1045528	1.00[CEU][hapmap];0.88[YRI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10503395	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11249899	0.87[EUR][1000 genomes]
rs12679527	0.84[EUR][1000 genomes]
rs13249731	1.00[CEU][hapmap];0.94[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13250674	0.80[EUR][1000 genomes]
rs13250919	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13258661	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13260103	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13261370	0.82[EUR][1000 genomes]
rs13263480	1.00[CEU][hapmap];0.89[YRI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13273769	1.00[CEU][hapmap];0.81[YRI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13273871	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13274157	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13276286	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13276537	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13281029	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17155162	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28393746	0.95[EUR][1000 genomes]
rs28516774	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28534948	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28812315	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2956245	0.86[EUR][1000 genomes]
rs2979269	0.88[YRI][hapmap]
rs34111588	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34334157	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34391124	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34412730	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34418902	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34712023	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34752993	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34854114	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35227233	0.84[EUR][1000 genomes]
rs35616716	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35808561	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3958881	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4841088	1.00[CEU][hapmap];0.88[YRI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4841092	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55634245	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55696609	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62492946	0.83[EUR][1000 genomes]
rs66483157	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs66869483	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs67139167	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs67259528	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs67434672	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs67575865	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs67958495	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs68043139	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6985908	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6989707	0.93[CEU][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6990134	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6993811	1.00[CEU][hapmap];0.82[YRI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6994214	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6994551	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7008080	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7012302	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs71514525	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs71514527	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73195799	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73197711	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73197712	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7387683	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7816149	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7816450	1.00[CEU][hapmap];0.82[YRI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9650628	1.00[CEU][hapmap];0.94[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[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
rs1430931	THEX1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:121 , 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	chr8:8861600-8868200	Weak transcription	Brain Substantia Nigra	brain
4	chr8:8861600-8870600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:8861600-8876200	Weak transcription	Esophagus	oesophagus
6	chr8:8861600-8878600	Weak transcription	Colon Smooth Muscle	Colon
7	chr8:8861600-8885600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:8861800-8869000	Weak transcription	Fetal Intestine Small	intestine
9	chr8:8861800-8870400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr8:8861800-8870400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr8:8861800-8870400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr8:8861800-8870400	Weak transcription	Fetal Stomach	stomach
13	chr8:8861800-8870400	Weak transcription	Psoas Muscle	Psoas
14	chr8:8861800-8870600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr8:8861800-8870600	Weak transcription	Thymus	Thymus
16	chr8:8861800-8871000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr8:8861800-8871000	Weak transcription	HSMMtube	muscle
18	chr8:8861800-8871400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr8:8861800-8871600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr8:8861800-8874800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr8:8861800-8875000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr8:8861800-8875000	Weak transcription	Gastric	stomach
23	chr8:8861800-8877800	Weak transcription	Right Ventricle	heart
24	chr8:8861800-8881800	Weak transcription	Fetal Kidney	kidney
25	chr8:8861800-8883400	Weak transcription	Spleen	Spleen
26	chr8:8861800-8883600	Weak transcription	Small Intestine	intestine
27	chr8:8861800-8885200	Weak transcription	Brain Cingulate Gyrus	brain
28	chr8:8861800-8887200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr8:8861800-8887400	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr8:8861800-8890000	Weak transcription	Stomach Smooth Muscle	stomach
31	chr8:8861800-8891400	Weak transcription	Brain Angular Gyrus	brain
32	chr8:8861800-8891800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr8:8861800-8892000	Weak transcription	Brain Anterior Caudate	brain
34	chr8:8861800-8892200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr8:8861800-8892200	Weak transcription	Ovary	ovary
36	chr8:8861800-8893800	Weak transcription	Fetal Brain Male	brain
37	chr8:8861800-8897800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr8:8861800-8915600	Weak transcription	Pancreas	Pancrea
39	chr8:8862000-8868800	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr8:8862000-8869000	Weak transcription	Adipose Nuclei	Adipose
41	chr8:8862000-8869000	Weak transcription	Fetal Brain Female	brain
42	chr8:8862000-8869200	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr8:8862000-8869600	Weak transcription	Fetal Lung	lung
44	chr8:8862000-8870400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr8:8862200-8869000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr8:8862200-8869000	Weak transcription	Primary B cells from cord blood	blood
47	chr8:8862200-8870600	Weak transcription	Left Ventricle	heart
48	chr8:8862200-8870600	Weak transcription	Lung	lung
49	chr8:8862400-8874400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr8:8863400-8870800	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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