Variant report

Variant	rs2288673
Chromosome Location	chr8:8860276-8860277
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	GABPA	chr8:8860070-8860664	Hela-S3	cervix:	n/a	chr8:8860379-8860393 chr8:8860382-8860396
2	CBX3	chr8:8859978-8860649	K562	blood:	n/a	n/a
3	POLR2A	chr8:8860023-8861019	K562	blood:	n/a	n/a
4	NRF1	chr8:8859821-8860585	GM12878	blood:	n/a	chr8:8860382-8860393 chr8:8860379-8860393 chr8:8860382-8860396
5	STAT3	chr8:8859977-8860344	Hela-S3	cervix:	n/a	n/a
6	SIN3AK20	chr8:8859925-8860962	MCF-7	breast:	n/a	n/a
7	E2F4	chr8:8860160-8860823	Hela-S3	cervix:	n/a	chr8:8860449-8860459
8	MTA3	chr8:8859868-8861042	GM12878	blood:	n/a	n/a
9	POLR2A	chr8:8860112-8860849	H1-hESC	embryonic stem cell:	n/a	n/a
10	PAX5	chr8:8860230-8860475	GM12878	blood:	n/a	n/a
11	POLR2A	chr8:8860063-8860812	Hela-S3	cervix:	n/a	n/a
12	PAX5	chr8:8860110-8860522	GM12878	blood:	n/a	n/a
13	MAX	chr8:8859860-8861015	ECC-1	luminal epithelium:	n/a	n/a
14	FOXP2	chr8:8860106-8860601	SK-N-MC	brain:	n/a	n/a
15	SP1	chr8:8860104-8860606	GM12878	blood:	n/a	chr8:8860330-8860341 chr8:8860286-8860298 chr8:8860287-8860297
16	CTCF	chr8:8860260-8860410	HCPEpiC	choroid plexus:	n/a	n/a
17	HMGN3	chr8:8860151-8860883	K562	blood:	n/a	n/a
18	TAF1	chr8:8860088-8860950	ECC-1	luminal epithelium:	n/a	n/a
19	PML	chr8:8860004-8860971	K562	blood:	n/a	n/a
20	CTCF	chr8:8860200-8860350	AG04449	skin:	n/a	n/a
21	CHD2	chr8:8860108-8860693	GM12878	blood:	n/a	n/a
22	EP300	chr8:8860111-8860557	HepG2	liver:	n/a	chr8:8860415-8860422 chr8:8860449-8860458 chr8:8860374-8860390
23	BHLHE40	chr8:8860011-8860546	HepG2	liver:	n/a	n/a
24	RCOR1	chr8:8860052-8860993	K562	blood:	n/a	n/a
25	CTCF	chr8:8860139-8860369	GM19240	blood:	n/a	n/a
26	ATF2	chr8:8859990-8860628	GM12878	blood:	n/a	n/a
27	CEBPB	chr8:8860118-8860411	HepG2	liver:	n/a	chr8:8860247-8860256 chr8:8860247-8860256 chr8:8860247-8860256 chr8:8860247-8860256
28	JUND	chr8:8860021-8860636	K562	blood:	n/a	n/a
29	POLR2A	chr8:8860081-8860861	Hela-S3	cervix:	n/a	n/a
30	TAF1	chr8:8860117-8860576	GM12891	blood:	n/a	n/a
31	FOXM1	chr8:8860007-8860770	GM12878	blood:	n/a	n/a
32	CTCF	chr8:8860210-8860347	ProgFib	skin:	n/a	n/a
33	CTCF	chr8:8860140-8860290	GM12873	blood:	n/a	n/a
34	RAD21	chr8:8860154-8860676	IMR90	lung:	n/a	chr8:8860316-8860325 chr8:8860427-8860440
35	CTCF	chr8:8860160-8860450	GM12871	blood:	n/a	n/a
36	CEBPB	chr8:8860042-8860512	A549	lung:	n/a	chr8:8860247-8860256 chr8:8860247-8860256 chr8:8860247-8860256 chr8:8860247-8860256
37	CTCF	chr8:8860152-8860311	Medullo	brain:	n/a	n/a
38	GABPA	chr8:8860185-8860530	GM12878	blood:	n/a	chr8:8860379-8860393 chr8:8860382-8860396
39	MAFK	chr8:8860110-8860385	H1-hESC	embryonic stem cell:	n/a	n/a
40	MYC	chr8:8860027-8860546	MCF10A-Er-Src	breast:	n/a	n/a
41	SIN3A	chr8:8859900-8861530	H1-hESC	embryonic stem cell:	n/a	chr8:8860777-8860788
42	TBL1XR1	chr8:8860073-8860645	K562	blood:	n/a	n/a
43	MXI1	chr8:8859866-8860760	H1-hESC	embryonic stem cell:	n/a	n/a
44	USF1	chr8:8860006-8860603	A549	lung:	n/a	n/a
45	SIN3AK20	chr8:8860109-8860708	HepG2	liver:	n/a	n/a
46	RAD21	chr8:8860113-8860383	SK-N-SH_RA	brain:	n/a	chr8:8860316-8860325
47	CTCF	chr8:8860200-8860350	GM12874	blood:	n/a	n/a
48	CTCF	chr8:8860220-8860370	GM12865	blood:	n/a	n/a
49	POLR2A	chr8:8860000-8860891	SK-N-MC	brain:	n/a	n/a
50	SP1	chr8:8860121-8860468	GM12878	blood:	n/a	chr8:8860330-8860341 chr8:8860286-8860298 chr8:8860287-8860297

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:8860266-8860316	AG10803	skin:	n/a
2	chr8:8860266-8860316	HEK293	kidney:	embryo
3	chr8:8860266-8860316	BE2_C	brain:	n/a
4	chr8:8860266-8860316	Jurkat	blood:	n/a
5	chr8:8860266-8860316	HRPEpiC	eye:	n/a
6	chr8:8860266-8860316	NB4	blood:	n/a
7	chr8:8860266-8860316	HNPCEpiC	eye:	n/a
8	chr8:8860266-8860316	Hepatocyte	liver:	n/a
9	chr8:8860266-8860316	PFSK-1	brain:	n/a
10	chr8:8860266-8860316	HPAEpiC	pulmonary alveolar:	n/a
11	chr8:8860266-8860316	HIPEpiC	eye:	n/a
12	chr8:8860266-8860316	HAEpiC	amniotic membrane:	n/a
13	chr8:8860266-8860316	HUVEC	blood vessel:	n/a
14	chr8:8860266-8860316	NH-A	brain:	n/a
15	chr8:8860266-8860316	SK-N-SH	brain:	n/a
16	chr8:8860266-8860316	NHBE	bronchial:	n/a
17	chr8:8860266-8860316	HL-60	blood:	n/a
18	chr8:8860266-8860316	AG04449	skin:	fetal
19	chr8:8860266-8860316	GM19239	blood:	n/a
20	chr8:8860266-8860316	HCF	heart:	n/a
21	chr8:8860266-8860316	NT2-D1	testis:	n/a
22	chr8:8860266-8860316	AG09319	gingival:	n/a
23	chr8:8860266-8860316	GM06990	blood:	n/a
24	chr8:8860266-8860316	H1-hESC	embryonic stem cell:	embryo
25	chr8:8860266-8860316	A549	lung:	n/a
26	chr8:8860266-8860316	SAEC	small airway:	n/a
27	chr8:8860266-8860316	GM12878	blood:	n/a
28	chr8:8860266-8860316	SK-N-MC	brain:	n/a
29	chr8:8860266-8860316	ovcar-3	ovarian:	n/a
30	chr8:8860266-8860316	HEEpiC	esophagus:	n/a
31	chr8:8860266-8860316	HMEC	breast:	n/a
32	chr8:8860266-8860316	ECC-1	luminal epithelium:	n/a
33	chr8:8860266-8860316	HCT-116	colon:	n/a
34	chr8:8860266-8860316	LNCaP	prostate:	n/a
35	chr8:8860266-8860316	K562	blood:	n/a
36	chr8:8860266-8860316	CMK	blood:	n/a
37	chr8:8860266-8860316	U87	brain:	n/a
38	chr8:8860266-8860316	HCPEpiC	choroid plexus:	n/a
39	chr8:8860266-8860316	HepG2	liver:	n/a
40	chr8:8860266-8860316	RPTEC	kidney:	n/a
41	chr8:8860266-8860316	GM12891	blood:	n/a
42	chr8:8860266-8860316	IMR90	lung:	fetal
43	chr8:8860266-8860316	MCF10A-Er-Src	breast:	n/a
44	chr8:8860266-8860316	SKMC	muscle:	n/a
45	chr8:8860266-8860316	Hela-S3	cervix:	n/a
46	chr8:8860266-8860316	PANC-1	pancreas:	n/a
47	chr8:8860266-8860316	MCF-7	breast:	n/a
48	chr8:8860266-8860316	T-47D	breast:	n/a
49	chr8:8860266-8860316	ProgFib	skin:	n/a
50	chr8:8860266-8860316	AoSMC	blood vessel:	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:8858968..8861271-chr8:9414006..9415764,2	K562	blood:
2	chr1:224370762..224371562-chr8:8859801..8860395,2	NB4	blood:
3	chr8:8859472..8863506-chr8:8866779..8870820,4	MCF-7	breast:
4	chr8:8859158..8867027-chr8:8867199..8874373,17	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MFHAS1-2	chr8:8860171-8860681	NONHSAT124902

Variant related genes	Relation type
ERI1	TF binding region
ERI1	CpG island
ENSG00000143753	Chromatin interaction
ENSG00000104626	Chromatin interaction
ENSG00000272267	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10104303	0.80[AMR][1000 genomes]
rs1045529	0.85[EUR][1000 genomes]
rs13272451	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17701675	0.84[AMR][1000 genomes]
rs1964356	0.83[AMR][1000 genomes]
rs2044387	0.82[AMR][1000 genomes]
rs2288671	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2915251	0.93[EUR][1000 genomes]
rs2921383	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2953802	0.83[AMR][1000 genomes]
rs2956244	0.85[EUR][1000 genomes]
rs2979256	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2979265	0.99[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4841083	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4841084	0.85[EUR][1000 genomes]
rs6987558	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6993244	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7016139	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7853	0.80[AMR][1000 genomes];0.85[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:6)

SNP	Gene	Cis/trans	Tissue	Source
rs2288673	BLK	Cis_chr	lymphoblastoid	RTeQTL
rs2288673	THEX1	Cis_1M	lymphoblastoid	RTeQTL
rs2288673	SGK223	cis	Thyroid	GTEx
rs2288673	C8orf5	Cis_chr	lymphoblastoid	RTeQTL
rs2288673	RP11-62H7.2	cis	Thyroid	GTEx
rs2288673	RP11-10A14.5	cis	Whole Blood	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8859600-8860400	Enhancers	Gastric	stomach
2	chr8:8859600-8860600	Active TSS	Stomach Smooth Muscle	stomach
3	chr8:8859600-8861000	Active TSS	Colon Smooth Muscle	Colon
4	chr8:8859600-8861400	Active TSS	A549	lung
5	chr8:8859600-8861600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:8859600-8862000	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr8:8859600-8862000	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr8:8859800-8860400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
9	chr8:8859800-8860400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr8:8859800-8860800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr8:8859800-8860800	Active TSS	Brain Cingulate Gyrus	brain
12	chr8:8859800-8861000	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr8:8859800-8861000	Active TSS	Brain Angular Gyrus	brain
14	chr8:8859800-8861000	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr8:8859800-8861000	Active TSS	Duodenum Mucosa	Duodenum
16	chr8:8859800-8861000	Active TSS	Fetal Brain Male	brain
17	chr8:8859800-8861000	Active TSS	Fetal Lung	lung
18	chr8:8859800-8861000	Active TSS	Skeletal Muscle Male	skeletal muscle
19	chr8:8859800-8861200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr8:8859800-8861200	Active TSS	Brain Substantia Nigra	brain
21	chr8:8859800-8861200	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr8:8859800-8861200	Active TSS	Fetal Kidney	kidney
23	chr8:8859800-8861200	Active TSS	Fetal Muscle Trunk	muscle
24	chr8:8859800-8861200	Active TSS	Rectal Mucosa Donor 31	rectum
25	chr8:8859800-8861200	Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr8:8859800-8861200	Active TSS	HSMMtube	muscle
27	chr8:8859800-8861400	Active TSS	H1 Cell Line	embryonic stem cell
28	chr8:8859800-8861400	Active TSS	iPS-18 Cell Line	embryonic stem cell
29	chr8:8859800-8861400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr8:8859800-8861400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr8:8859800-8861400	Active TSS	Right Ventricle	heart
32	chr8:8859800-8861400	Active TSS	NHLF	lung
33	chr8:8859800-8861600	Active TSS	H9 Cell Line	embryonic stem cell
34	chr8:8859800-8861600	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr8:8859800-8861800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:8859800-8861800	Active TSS	Psoas Muscle	Psoas
37	chr8:8859800-8862000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr8:8859800-8862000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr8:8859800-8862000	Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr8:8859800-8862000	Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr8:8860000-8860400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr8:8860000-8860400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
43	chr8:8860000-8860600	Active TSS	Primary hematopoietic stem cells	blood
44	chr8:8860000-8860600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr8:8860000-8860600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
46	chr8:8860000-8860600	Active TSS	Colonic Mucosa	Colon
47	chr8:8860000-8860800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr8:8860000-8860800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
49	chr8:8860000-8860800	Active TSS	Liver	Liver
50	chr8:8860000-8860800	Bivalent/Poised TSS	Brain Germinal Matrix	brain

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