Variant report

Variant	rs28649280
Chromosome Location	chr8:117768128-117768129
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	POLR2A	chr8:117767885-117768270	A549	lung:	n/a	n/a
2	YY1	chr8:117767532-117768519	SK-N-SH	brain:	n/a	chr8:117768027-117768044
3	POLR2A	chr8:117767106-117768942	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr8:117767613-117768532	U87	brain:	n/a	n/a
5	TAF1	chr8:117767789-117768262	GM12891	blood:	n/a	n/a
6	HEY1	chr8:117767771-117768404	K562	blood:	n/a	chr8:117768099-117768108 chr8:117768101-117768110
7	GTF2F1	chr8:117767834-117768549	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr8:117767830-117768142	MCF-7	breast:	n/a	n/a
9	GABPA	chr8:117767832-117768240	Hela-S3	cervix:	n/a	chr8:117768079-117768086
10	POLR2A	chr8:117767736-117768499	Hela-S3	cervix:	n/a	n/a
11	GABPA	chr8:117767820-117768288	H1-hESC	embryonic stem cell:	n/a	chr8:117768079-117768086
12	EP300	chr8:117767787-117768780	GM12878	blood:	n/a	chr8:117768695-117768702
13	POLR2A	chr8:117767770-117768323	HUVEC	blood vessel:	n/a	n/a
14	POLR2A	chr8:117767827-117768369	HepG2	liver:	n/a	n/a
15	GTF2F1	chr8:117767940-117768228	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAX	chr8:117767524-117768480	HCT-116	colon:	n/a	chr8:117767872-117767881 chr8:117767866-117767881 chr8:117767870-117767880
17	SIN3AK20	chr8:117767680-117768583	HCT-116	colon:	n/a	n/a
18	CTCF	chr8:117767980-117768130	HCPEpiC	choroid plexus:	n/a	n/a
19	NFATC1	chr8:117767721-117768486	GM12878	blood:	n/a	chr8:117768243-117768256
20	MAX	chr8:117767621-117768442	A549	lung:	n/a	chr8:117767872-117767881 chr8:117767866-117767881 chr8:117767870-117767880
21	POLR2A	chr8:117767716-117768532	ProgFib	skin:	n/a	n/a
22	POLR2A	chr8:117767458-117768398	HepG2	liver:	n/a	n/a
23	TAF1	chr8:117767729-117768238	H1-hESC	embryonic stem cell:	n/a	n/a
24	TAF1	chr8:117767724-117768477	PFSK-1	brain:	n/a	n/a
25	YY1	chr8:117767653-117768308	ECC-1	luminal epithelium:	n/a	chr8:117768027-117768044
26	REST	chr8:117767674-117768326	HL-60	blood:	n/a	n/a
27	ELF1	chr8:117767788-117768244	K562	blood:	n/a	chr8:117768079-117768088
28	POLR2A	chr8:117767595-117768498	K562	blood:	n/a	n/a
29	GABPA	chr8:117767473-117768479	A549	lung:	n/a	chr8:117768079-117768086
30	TAF1	chr8:117767816-117768313	SK-N-SH	brain:	n/a	n/a
31	MYC	chr8:117767502-117768355	MCF10A-Er-Src	breast:	n/a	chr8:117767872-117767881 chr8:117767866-117767881 chr8:117767870-117767880
32	SIN3AK20	chr8:117767587-117768588	HCT-116	colon:	n/a	n/a
33	BRCA1	chr8:117767968-117768254	HepG2	liver:	n/a	chr8:117768094-117768103
34	BRCA1	chr8:117767676-117768411	Hela-S3	cervix:	n/a	chr8:117768094-117768103
35	YY1	chr8:117767657-117768359	GM12892	blood:	n/a	chr8:117768027-117768044
36	SIN3AK20	chr8:117767875-117768259	HepG2	liver:	n/a	n/a
37	POLR2A	chr8:117767782-117768343	K562	blood:	n/a	n/a
38	TBP	chr8:117767804-117768379	H1-hESC	embryonic stem cell:	n/a	n/a
39	ETS1	chr8:117767874-117768335	A549	lung:	n/a	chr8:117768074-117768083 chr8:117768074-117768083 chr8:117768075-117768085 chr8:117768074-117768083 chr8:117768070-117768086 chr8:117768077-117768092 chr8:117768074-117768083 chr8:117768074-117768083 chr8:117768074-117768083 chr8:117768074-117768085 chr8:117768158-117768171
40	FOSL2	chr8:117767744-117768370	A549	lung:	n/a	chr8:117768100-117768109 chr8:117768162-117768171
41	TAF1	chr8:117767857-117768230	GM12878	blood:	n/a	n/a
42	CHD2	chr8:117767850-117768262	HepG2	liver:	n/a	n/a
43	CREB1	chr8:117767714-117768488	GM12878	blood:	n/a	chr8:117768098-117768111
44	GABPA	chr8:117767776-117768278	GM12878	blood:	n/a	chr8:117768079-117768086
45	GABPA	chr8:117767260-117768550	A549	lung:	n/a	chr8:117768079-117768086
46	STAT1	chr8:117767919-117768375	GM12878	blood:	n/a	chr8:117768066-117768086
47	GABPA	chr8:117767656-117768305	K562	blood:	n/a	chr8:117768079-117768086
48	POLR2A	chr8:117767720-117768418	GM12892	blood:	n/a	n/a
49	REST	chr8:117767819-117768294	A549	lung:	n/a	n/a
50	TAF1	chr8:117767744-117768398	MCF-7	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:117768111-117768161	NHDF-neo	bronchial:	n/a
2	chr8:117768111-117768161	GM12878	blood:	n/a
3	chr8:117768111-117768161	HEEpiC	esophagus:	n/a
4	chr8:117768111-117768161	HCPEpiC	choroid plexus:	n/a
5	chr8:117768111-117768161	Jurkat	blood:	n/a
6	chr8:117768111-117768161	HRCEpiC	kidney:	n/a
7	chr8:117768111-117768161	GM12891	blood:	n/a
8	chr8:117768111-117768161	NHBE	bronchial:	n/a
9	chr8:117768111-117768161	GM19239	blood:	n/a
10	chr8:117768111-117768161	T-47D	breast:	n/a
11	chr8:117768111-117768161	SAEC	small airway:	n/a
12	chr8:117768111-117768161	Hela-S3	cervix:	n/a
13	chr8:117768111-117768161	HNPCEpiC	eye:	n/a
14	chr8:117768111-117768161	CMK	blood:	n/a
15	chr8:117768111-117768161	HMEC	breast:	n/a
16	chr8:117768111-117768161	NH-A	brain:	n/a
17	chr8:117768111-117768161	PANC-1	pancreas:	n/a
18	chr8:117768111-117768161	MCF10A-Er-Src	breast:	n/a
19	chr8:117768111-117768161	HRE	kidney:	n/a
20	chr8:117768111-117768161	SKMC	muscle:	n/a
21	chr8:117768111-117768161	BJ	skin:	n/a
22	chr8:117768111-117768161	GM06990	blood:	n/a
23	chr8:117768111-117768161	AG09309	skin:	n/a
24	chr8:117768111-117768161	H1-hESC	embryonic stem cell:	embryo
25	chr8:117768111-117768161	PrEC	prostate:	n/a
26	chr8:117768111-117768161	K562	blood:	n/a
27	chr8:117768111-117768161	ovcar-3	ovarian:	n/a
28	chr8:117768111-117768161	NB4	blood:	n/a
29	chr8:117768111-117768161	HPAEpiC	pulmonary alveolar:	n/a
30	chr8:117768111-117768161	SK-N-MC	brain:	n/a
31	chr8:117768111-117768161	SK-N-SH_RA	brain:	n/a
32	chr8:117768111-117768161	U87	brain:	n/a
33	chr8:117768111-117768161	Hepatocyte	liver:	n/a
34	chr8:117768111-117768161	HAEpiC	amniotic membrane:	n/a
35	chr8:117768111-117768161	AG04449	skin:	fetal
36	chr8:117768111-117768161	MCF-7	breast:	n/a
37	chr8:117768111-117768161	HUVEC	blood vessel:	n/a
38	chr8:117768111-117768161	RPTEC	kidney:	n/a
39	chr8:117768111-117768161	LNCaP	prostate:	n/a
40	chr8:117768111-117768161	IMR90	lung:	fetal
41	chr8:117768111-117768161	HL-60	blood:	n/a
42	chr8:117768111-117768161	HCT-116	colon:	n/a
43	chr8:117768111-117768161	HCM	heart:	n/a
44	chr8:117768111-117768161	AG10803	skin:	n/a
45	chr8:117768111-117768161	HepG2	liver:	n/a
46	chr8:117768111-117768161	AoSMC	blood vessel:	n/a
47	chr8:117768111-117768161	AG09319	gingival:	n/a
48	chr8:117768111-117768161	ProgFib	skin:	n/a
49	chr8:117768111-117768161	Caco-2	colon:	n/a
50	chr8:117768111-117768161	SK-N-SH	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:117766167..117768500-chr8:117885619..117887391,2	K562	blood:
2	chr8:117767652..117768643-chr8:117778086..117778751,2	MCF-7	breast:
3	chr8:117767454..117768307-chr8:117778310..117778850,2	MCF-7	breast:
4	chr8:117766057..117771164-chr8:117775647..117780363,13	MCF-7	breast:

Variant related genes	Relation type
EIF3H	TF binding region
EIF3H	CpG island
ENSG00000147677	Chromatin interaction
ENSG00000147679	Chromatin interaction
ENSG00000164754	Chromatin interaction
ENSG00000264875	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10109976	0.94[AFR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10505288	0.89[AFR][1000 genomes]
rs1550856	0.90[ASN][1000 genomes]
rs16888671	0.83[AFR][1000 genomes]
rs16888693	0.82[AFR][1000 genomes]
rs16888695	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16888699	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16888728	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1867840	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28651059	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28668628	0.87[EUR][1000 genomes]
rs4289842	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56316062	0.89[AFR][1000 genomes]
rs58836328	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59036101	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs66883336	0.89[AFR][1000 genomes]
rs67676723	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6983626	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7014328	0.82[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7014359	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs72681699	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7388498	0.94[AFR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7388507	0.94[AFR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7823271	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7825662	0.81[AFR][1000 genomes]
rs7828067	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7829098	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7832540	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7837208	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7838174	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9693860	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs979866	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs979867	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117766200-117768600	Active TSS	GM12878-XiMat	blood
2	chr8:117766400-117769200	Active TSS	K562	blood
3	chr8:117766600-117768600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:117766600-117768800	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr8:117766600-117768800	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr8:117766600-117768800	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr8:117766800-117768600	Active TSS	H1 Cell Line	embryonic stem cell
8	chr8:117766800-117768600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr8:117766800-117768600	Active TSS	H9 Cell Line	embryonic stem cell
10	chr8:117766800-117768600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr8:117766800-117768600	Active TSS	Right Ventricle	heart
12	chr8:117766800-117768600	Active TSS	HSMMtube	muscle
13	chr8:117766800-117768800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr8:117766800-117768800	Active TSS	A549	lung
15	chr8:117767000-117768400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr8:117767000-117768400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:117767000-117768600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:117767000-117768600	Active TSS	Fetal Intestine Large	intestine
19	chr8:117767000-117768600	Active TSS	Fetal Muscle Leg	muscle
20	chr8:117767000-117768600	Active TSS	Placenta	Placenta
21	chr8:117767000-117768600	Active TSS	Psoas Muscle	Psoas
22	chr8:117767000-117768600	Active TSS	HSMM	muscle
23	chr8:117767000-117768600	Active TSS	NHEK	skin
24	chr8:117767000-117768800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:117767000-117768800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr8:117767000-117768800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr8:117767000-117768800	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr8:117767000-117768800	Active TSS	Muscle Satellite Cultured Cells	--
29	chr8:117767000-117768800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr8:117767000-117768800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr8:117767000-117768800	Active TSS	Fetal Kidney	kidney
32	chr8:117767000-117768800	Active TSS	HMEC	breast
33	chr8:117767000-117768800	Active TSS	NHDF-Ad	bronchial
34	chr8:117767200-117768400	Active TSS	Stomach Mucosa	stomach
35	chr8:117767200-117768600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
36	chr8:117767200-117768600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr8:117767200-117768600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr8:117767200-117768600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr8:117767200-117768600	Active TSS	Fetal Muscle Trunk	muscle
40	chr8:117767200-117768600	Active TSS	Placenta Amnion	Placenta Amnion
41	chr8:117767200-117768600	Active TSS	Right Atrium	heart
42	chr8:117767200-117768600	Active TSS	Hela-S3	cervix
43	chr8:117767200-117768800	Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr8:117767200-117768800	Active TSS	HUES64 Cell Line	embryonic stem cell
45	chr8:117767200-117768800	Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr8:117767200-117768800	Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chr8:117767200-117768800	Active TSS	NHLF	lung
48	chr8:117767200-117769000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr8:117767400-117768200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr8:117767400-117768200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

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