Variant report

Variant	rs6994551
Chromosome Location	chr8:8916339-8916340
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	ZC3H11A	chr8:8916313-8916356	K562	blood:	n/a	n/a
2	PBX3	chr8:8915875-8916372	SK-N-SH	brain:	n/a	n/a
3	PBX3	chr8:8915892-8916353	SK-N-SH	brain:	n/a	n/a
4	NFIC	chr8:8915856-8916368	SK-N-SH	brain:	n/a	n/a
5	GATA3	chr8:8915849-8916355	SK-N-SH	brain:	n/a	n/a
6	GATA3	chr8:8915646-8916367	SK-N-SH	brain:	n/a	n/a
7	TCF12	chr8:8915665-8916392	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000252543	TF binding region

Extended variants
information (count: 69 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs1016512	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1045528	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10503395	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13249731	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13250674	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13250919	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13258661	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13260103	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13261370	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13263480	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13273769	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13273871	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13274157	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13276286	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13276537	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13281029	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1430931	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17155162	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2044389	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28393746	0.94[EUR][1000 genomes]
rs28516774	0.85[EUR][1000 genomes]
rs28534948	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28812315	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34111588	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34334157	0.83[EUR][1000 genomes]
rs34391124	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34412730	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34418902	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34712023	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34752993	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34854114	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35227233	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35616716	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35808561	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3958881	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4841088	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4841092	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55634245	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55696609	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs66483157	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs66869483	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs67139167	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs67259528	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67434672	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs67575865	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs67958495	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs68043139	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6985908	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6989707	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6990134	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6993811	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6994214	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7008080	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7012302	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs71514525	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71514527	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73195799	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73197711	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73197712	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7387683	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7816149	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7816450	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9650628	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
5	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
6	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
rs6994551	THEX1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8899000-8919200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr8:8913600-8916400	Enhancers	Fetal Intestine Large	intestine
3	chr8:8914600-8917000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:8914800-8916400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr8:8915000-8916400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr8:8915000-8916400	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr8:8915000-8916400	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr8:8915000-8923600	Weak transcription	Duodenum Mucosa	Duodenum
9	chr8:8915400-8928000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:8915600-8916600	Enhancers	Fetal Heart	heart
11	chr8:8915800-8918600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:8916000-8916400	Enhancers	HSMM	muscle
13	chr8:8916000-8917800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr8:8916000-8918600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr8:8916000-8923200	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr8:8916000-8923400	Weak transcription	Osteobl	bone
17	chr8:8916000-8935200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr8:8916200-8916400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:8916200-8916400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr8:8916200-8916400	Enhancers	NHDF-Ad	bronchial
21	chr8:8916200-8916600	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr8:8916200-8916600	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr8:8916200-8918000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr8:8916200-8918000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr8:8916200-8918200	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr8:8916200-8919600	Weak transcription	Fetal Intestine Small	intestine
27	chr8:8916200-8921600	Weak transcription	K562	blood
28	chr8:8916200-8923400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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