Variant report

Variant	rs28372872
Chromosome Location	chr8:67340809-67340810
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	chr8:67340788-67341629	HepG2	liver:	n/a	n/a
2	POLR2A	chr8:67340379-67340936	U87	brain:	n/a	n/a
3	CREB1	chr8:67340744-67341524	A549	lung:	n/a	n/a
4	CTCF	chr8:67340680-67340830	GM12872	blood:	n/a	n/a
5	POLR2A	chr8:67340632-67342244	HEK293	kidney:	n/a	n/a
6	POLR2A	chr8:67340584-67340859	Hela-S3	cervix:	n/a	n/a
7	CHD2	chr8:67340596-67342103	Hela-S3	cervix:	n/a	chr8:67341038-67341048 chr8:67340834-67340844
8	RCOR1	chr8:67340131-67343104	IMR90	lung:	n/a	n/a
9	HEY1	chr8:67340607-67341540	HepG2	liver:	n/a	n/a
10	HCFC1	chr8:67340521-67341619	K562	blood:	n/a	n/a
11	POLR2A	chr8:67340621-67341588	HUVEC	blood vessel:	n/a	n/a
12	MAZ	chr8:67340649-67341586	K562	blood:	n/a	chr8:67341276-67341285 chr8:67341277-67341286 chr8:67341277-67341284
13	SIX5	chr8:67340738-67341690	A549	lung:	n/a	chr8:67341062-67341071 chr8:67341060-67341069
14	TAF1	chr8:67340667-67341985	ECC-1	luminal epithelium:	n/a	n/a
15	POLR2A	chr8:67340542-67340857	Hela-S3	cervix:	n/a	n/a
16	SP1	chr8:67340743-67341602	A549	lung:	n/a	chr8:67341040-67341052 chr8:67341040-67341052 chr8:67340834-67340846 chr8:67341041-67341055 chr8:67341042-67341051 chr8:67340835-67340844 chr8:67341040-67341051 chr8:67340834-67340846
17	POLR2A	chr8:67340200-67341697	GM12891	blood:	n/a	n/a
18	ZNF143	chr8:67340733-67341596	Hela-S3	cervix:	n/a	chr8:67341053-67341071 chr8:67341062-67341071 chr8:67341060-67341069 chr8:67341040-67341058
19	ZBTB7A	chr8:67340605-67341194	ECC-1	luminal epithelium:	n/a	n/a
20	FOXA2	chr8:67340501-67341058	A549	lung:	n/a	n/a
21	SIN3A	chr8:67340551-67343021	H1-hESC	embryonic stem cell:	n/a	chr8:67340971-67340984 chr8:67341010-67341023
22	RCOR1	chr8:67340556-67341451	K562	blood:	n/a	n/a
23	PML	chr8:67340775-67342296	GM12878	blood:	n/a	n/a
24	TEAD4	chr8:67340606-67341005	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr8:67340347-67342470	SK-N-MC	brain:	n/a	n/a
26	POLR2A	chr8:67340464-67340855	U87	brain:	n/a	n/a
27	CTCF	chr8:67340760-67340910	GM12873	blood:	n/a	n/a
28	CHD2	chr8:67340688-67341497	HepG2	liver:	n/a	chr8:67341038-67341048 chr8:67340834-67340844
29	POLR2A	chr8:67340662-67342188	GM18951	blood:	n/a	n/a
30	MAX	chr8:67340411-67342740	A549	lung:	n/a	chr8:67341276-67341285 chr8:67341277-67341286 chr8:67341277-67341284
31	POLR2A	chr8:67340452-67342272	K562	blood:	n/a	n/a
32	GATA1	chr8:67340042-67341555	PBDE	blood:	n/a	chr8:67340499-67340506 chr8:67340149-67340158
33	MAZ	chr8:67340009-67342628	IMR90	lung:	n/a	chr8:67341276-67341285 chr8:67341277-67341286 chr8:67341277-67341284
34	ETS1	chr8:67340786-67341583	A549	lung:	n/a	chr8:67341233-67341243 chr8:67341217-67341227 chr8:67340898-67340911 chr8:67341060-67341073
35	POLR2A	chr8:67340714-67342584	GM18505	blood:	n/a	n/a
36	SMC3	chr8:67340471-67341515	Hela-S3	cervix:	n/a	chr8:67341044-67341054 chr8:67340978-67340988
37	SMARCB1	chr8:67340506-67342379	Hela-S3	cervix:	n/a	chr8:67341062-67341071
38	ZBTB7A	chr8:67340598-67341272	ECC-1	luminal epithelium:	n/a	n/a
39	TCF12	chr8:67340478-67342816	A549	lung:	n/a	n/a
40	POLR2A	chr8:67340443-67341621	PFSK-1	brain:	n/a	n/a
41	POLR2A	chr8:67340703-67342437	HepG2	liver:	n/a	n/a
42	CHD1	chr8:67340160-67343807	IMR90	lung:	n/a	chr8:67341038-67341048 chr8:67340834-67340844
43	CTCF	chr8:67340062-67342742	SK-N-SH	brain:	n/a	chr8:67340979-67340989 chr8:67340978-67340991
44	YY1	chr8:67340665-67342240	HepG2	liver:	n/a	chr8:67341000-67341014
45	MTA3	chr8:67340396-67341727	GM12878	blood:	n/a	n/a
46	CREB1	chr8:67340564-67341872	HepG2	liver:	n/a	n/a
47	FOXP2	chr8:67340696-67341830	PFSK-1	brain:	n/a	n/a
48	WRNIP1	chr8:67340686-67340835	GM12878	blood:	n/a	n/a
49	ZBTB7A	chr8:67340684-67341281	K562	blood:	n/a	n/a
50	TCF12	chr8:67340798-67342135	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:67023862..67029462-chr8:67339600..67346087,12	MCF-7	breast:
2	chr8:67340059..67341609-chr8:67975911..67978100,2	K562	blood:
3	chr8:67035768..67039915-chr8:67339207..67342855,3	MCF-7	breast:

Variant related genes	Relation type
RRS1	TF binding region
ADHFE1	TF binding region
ENSG00000104218	Chromatin interaction
ENSG00000121022	Chromatin interaction
ENSG00000147573	Chromatin interaction
ENSG00000253190	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10504396	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11987071	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11989945	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11992832	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11993412	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11993452	0.97[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11994448	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11995689	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11997195	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11998019	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12541622	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12547412	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12549283	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12549484	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12550686	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16919046	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16919047	0.80[AFR][1000 genomes]
rs16932815	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2098945	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3739338	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4737227	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4737228	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4737229	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4737233	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4737785	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4737787	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4737788	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4737793	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4737794	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4737795	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4737796	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4737799	0.82[ASN][1000 genomes]
rs55681208	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55742362	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56176340	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57217048	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs57462183	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57882940	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57925216	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57951167	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59825535	0.86[AMR][1000 genomes]
rs61646267	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6472268	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6472278	0.80[ASN][1000 genomes]
rs66470447	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs66713752	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66716606	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs66779163	0.97[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs66967250	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66996327	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67015438	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67433773	0.80[ASN][1000 genomes]
rs67436695	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67443499	0.86[AMR][1000 genomes]
rs67472590	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67556627	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67814353	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67928664	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6985120	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6989573	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6993146	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6994570	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6998057	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6998839	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7001576	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7009437	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7013081	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7014652	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7015791	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72652710	0.86[AMR][1000 genomes]
rs72652713	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72652714	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72652715	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72652728	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72652745	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72652748	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73247981	0.86[AMR][1000 genomes]
rs73247982	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73249829	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73253606	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7824057	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7828145	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7838277	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7838488	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3414665	chr8:66936816-67381935	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 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	chr8:67340000-67341400	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr8:67340000-67345200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr8:67340200-67341400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr8:67340200-67342000	Active TSS	Brain Angular Gyrus	brain
5	chr8:67340200-67342000	Active TSS	Brain Anterior Caudate	brain
6	chr8:67340200-67342000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr8:67340200-67342000	Active TSS	Colonic Mucosa	Colon
8	chr8:67340200-67342000	Active TSS	Fetal Brain Female	brain
9	chr8:67340200-67342000	Active TSS	Fetal Stomach	stomach
10	chr8:67340200-67342000	Active TSS	Rectal Smooth Muscle	rectum
11	chr8:67340200-67342200	Active TSS	Primary T cells from cord blood	blood
12	chr8:67340200-67342200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr8:67340200-67342200	Active TSS	Left Ventricle	heart
14	chr8:67340200-67342800	Active TSS	Fetal Kidney	kidney
15	chr8:67340200-67342800	Active TSS	Thymus	Thymus
16	chr8:67340200-67343400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:67340200-67343400	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr8:67340200-67343600	Active TSS	Hela-S3	cervix
19	chr8:67340200-67345000	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr8:67340200-67345200	Active TSS	NHLF	lung
21	chr8:67340200-67345400	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr8:67340200-67345400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr8:67340200-67345400	Active TSS	Fetal Intestine Large	intestine
24	chr8:67340200-67345400	Active TSS	Right Atrium	heart
25	chr8:67340200-67345600	Active TSS	H9 Cell Line	embryonic stem cell
26	chr8:67340200-67345600	Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr8:67340400-67341000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
28	chr8:67340400-67341000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
29	chr8:67340400-67341000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
30	chr8:67340400-67341000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
31	chr8:67340400-67341000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr8:67340400-67341000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
33	chr8:67340400-67341400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr8:67340400-67341400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
35	chr8:67340400-67341600	Flanking Active TSS	Primary hematopoietic stem cells	blood
36	chr8:67340400-67342400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr8:67340400-67342400	Active TSS	Aorta	Aorta
38	chr8:67340400-67342400	Active TSS	Fetal Lung	lung
39	chr8:67340400-67342600	Active TSS	Esophagus	oesophagus
40	chr8:67340400-67342600	Active TSS	Gastric	stomach
41	chr8:67340400-67342600	Active TSS	Lung	lung
42	chr8:67340400-67342600	Active TSS	Osteobl	bone
43	chr8:67340400-67342800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr8:67340400-67343000	Active TSS	Sigmoid Colon	Sigmoid Colon
45	chr8:67340400-67343400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr8:67340400-67343400	Active TSS	Fetal Intestine Small	intestine
47	chr8:67340400-67343600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr8:67340400-67343600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr8:67340400-67343600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr8:67340400-67345000	Active TSS	HepG2	liver

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