Variant report

Variant	rs28534948
Chromosome Location	chr8:8859791-8859792
allele	C/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	MXI1	chr8:8859741-8861012	GM12878	blood:	n/a	n/a
2	POLR2A	chr8:8859693-8860957	K562	blood:	n/a	n/a
3	STAT1	chr8:8859662-8860689	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr8:8859754-8860653	K562	blood:	n/a	chr8:8860247-8860256 chr8:8860247-8860256 chr8:8860247-8860256 chr8:8860247-8860256
5	HCFC1	chr8:8859489-8861598	Hela-S3	cervix:	n/a	n/a
6	GABPA	chr8:8859777-8860811	HL-60	blood:	n/a	chr8:8860379-8860393 chr8:8860382-8860396
7	NRF1	chr8:8859682-8861002	SK-N-SH	brain:	n/a	chr8:8860382-8860393 chr8:8860379-8860393 chr8:8860382-8860396
8	CEBPB	chr8:8859774-8860785	HCT-116	colon:	n/a	chr8:8860247-8860256 chr8:8860247-8860256 chr8:8860247-8860256 chr8:8860247-8860256
9	WRNIP1	chr8:8859736-8861071	GM12878	blood:	n/a	n/a
10	CEBPB	chr8:8859786-8860720	A549	lung:	n/a	chr8:8860247-8860256 chr8:8860247-8860256 chr8:8860247-8860256 chr8:8860247-8860256
11	MXI1	chr8:8859329-8861865	IMR90	lung:	n/a	n/a
12	MXI1	chr8:8859768-8860857	HepG2	liver:	n/a	n/a
13	BHLHE40	chr8:8859432-8860684	K562	blood:	n/a	n/a
14	RAD21	chr8:8859543-8861129	SK-N-SH	brain:	n/a	chr8:8860316-8860325 chr8:8860427-8860440
15	MXI1	chr8:8859518-8861883	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:8858968..8861271-chr8:9414006..9415764,2	K562	blood:
2	chr8:8859472..8863506-chr8:8866779..8870820,4	MCF-7	breast:
3	chr8:8859158..8867027-chr8:8867199..8874373,17	K562	blood:

Variant related genes	Relation type
ERI1	TF binding region
ENSG00000272267	Chromatin interaction
ENSG00000104626	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 1 )

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

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8846600-8859800	Weak transcription	Brain Anterior Caudate	brain
2	chr8:8854000-8859800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:8856200-8859800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr8:8856200-8859800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr8:8856400-8859800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr8:8856400-8859800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr8:8857000-8859800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:8858200-8859800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr8:8858800-8859800	Enhancers	K562	blood
10	chr8:8858800-8859800	Enhancers	NHEK	skin
11	chr8:8859400-8859800	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr8:8859400-8859800	Enhancers	Dnd41	blood
13	chr8:8859600-8859800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr8:8859600-8859800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr8:8859600-8859800	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr8:8859600-8859800	Enhancers	Primary hematopoietic stem cells	blood
17	chr8:8859600-8859800	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr8:8859600-8859800	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr8:8859600-8859800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr8:8859600-8859800	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr8:8859600-8859800	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr8:8859600-8859800	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr8:8859600-8859800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr8:8859600-8859800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr8:8859600-8859800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr8:8859600-8859800	Enhancers	Liver	Liver
27	chr8:8859600-8859800	Enhancers	Brain Cingulate Gyrus	brain
28	chr8:8859600-8859800	Active TSS	Brain Hippocampus Middle	brain
29	chr8:8859600-8859800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr8:8859600-8859800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr8:8859600-8859800	Weak transcription	Placenta	Placenta
32	chr8:8859600-8859800	Enhancers	Fetal Stomach	stomach
33	chr8:8859600-8859800	Weak transcription	Psoas Muscle	Psoas
34	chr8:8859600-8859800	Enhancers	Rectal Smooth Muscle	rectum
35	chr8:8859600-8859800	Enhancers	Stomach Mucosa	stomach
36	chr8:8859600-8859800	Enhancers	GM12878-XiMat	blood
37	chr8:8859600-8859800	Enhancers	Hela-S3	cervix
38	chr8:8859600-8859800	Bivalent Enhancer	HepG2	liver
39	chr8:8859600-8859800	Enhancers	Osteobl	bone
40	chr8:8859600-8860000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr8:8859600-8860000	Enhancers	Primary B cells from peripheral blood	blood
42	chr8:8859600-8860000	Bivalent Enhancer	Fetal Muscle Leg	muscle
43	chr8:8859600-8860200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr8:8859600-8860200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr8:8859600-8860200	Flanking Active TSS	Adipose Nuclei	Adipose
46	chr8:8859600-8860200	Enhancers	Pancreas	Pancrea
47	chr8:8859600-8860200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr8:8859600-8860400	Enhancers	Gastric	stomach
49	chr8:8859600-8860600	Active TSS	Stomach Smooth Muscle	stomach
50	chr8:8859600-8861000	Active TSS	Colon Smooth Muscle	Colon

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