Variant report

Variant	rs28726128
Chromosome Location	chr8:110657192-110657193
allele	C/T
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	HDAC2	chr8:110656763-110657255	HepG2	liver:	n/a	n/a
2	USF1	chr8:110656836-110657286	A549	lung:	n/a	chr8:110656916-110656932 chr8:110656977-110656993 chr8:110657171-110657187 chr8:110657085-110657096 chr8:110657023-110657039 chr8:110656985-110657001
3	RCOR1	chr8:110656029-110658212	HepG2	liver:	n/a	n/a
4	E2F6	chr8:110656281-110657372	K562	blood:	n/a	chr8:110657022-110657032 chr8:110656977-110656986 chr8:110657215-110657224
5	POLR2A	chr8:110656758-110657300	A549	lung:	n/a	n/a
6	JUND	chr8:110657013-110657242	H1-hESC	embryonic stem cell:	n/a	n/a
7	FOXA2	chr8:110656779-110657238	A549	lung:	n/a	n/a
8	POLR2A	chr8:110656940-110657824	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr8:110656784-110657989	U87	brain:	n/a	n/a
10	MAX	chr8:110656808-110657346	K562	blood:	n/a	chr8:110657086-110657097 chr8:110657087-110657096 chr8:110657086-110657096 chr8:110657086-110657096
11	POLR2A	chr8:110656770-110657320	A549	lung:	n/a	n/a
12	MYC	chr8:110656979-110657215	HUVEC	blood vessel:	n/a	chr8:110657086-110657097 chr8:110657087-110657096 chr8:110657086-110657096 chr8:110657086-110657096
13	POLR2A	chr8:110656191-110657318	H1-neurons	neurons:	n/a	n/a
14	ZEB1	chr8:110656812-110657360	GM12878	blood:	n/a	chr8:110657143-110657150
15	MAZ	chr8:110656743-110657621	K562	blood:	n/a	chr8:110657086-110657097 chr8:110657087-110657096 chr8:110657086-110657096 chr8:110657086-110657096
16	POLR2A	chr8:110656771-110658043	H1-hESC	embryonic stem cell:	n/a	n/a
17	MYC	chr8:110656811-110657685	K562	blood:	n/a	chr8:110657086-110657097 chr8:110657087-110657096 chr8:110657086-110657096 chr8:110657086-110657096
18	CTCF	chr8:110656624-110657730	MCF-7	breast:	n/a	chr8:110656932-110656945 chr8:110656929-110656947
19	NFIC	chr8:110656960-110657453	GM12878	blood:	n/a	n/a
20	SMC3	chr8:110656019-110657530	Hela-S3	cervix:	n/a	n/a
21	E2F6	chr8:110656752-110657231	K562	blood:	n/a	chr8:110657022-110657032 chr8:110656977-110656986 chr8:110657215-110657224
22	MAX	chr8:110656636-110657318	H1-hESC	embryonic stem cell:	n/a	chr8:110657086-110657097 chr8:110657087-110657096 chr8:110657086-110657096 chr8:110657086-110657096
23	CTCF	chr8:110656496-110657932	A549	lung:	n/a	chr8:110656932-110656945 chr8:110656929-110656947
24	POLR2A	chr8:110656085-110657683	Hela-S3	cervix:	n/a	n/a
25	EGR1	chr8:110656866-110657526	MCF-7	breast:	n/a	chr8:110657124-110657138 chr8:110657215-110657225 chr8:110657216-110657229
26	RCOR1	chr8:110656755-110657618	GM12878	blood:	n/a	n/a
27	TAF1	chr8:110656762-110657270	HepG2	liver:	n/a	n/a
28	ZEB1	chr8:110656635-110657537	GM12878	blood:	n/a	chr8:110657143-110657150
29	USF1	chr8:110656894-110657244	K562	blood:	n/a	chr8:110656916-110656932 chr8:110656977-110656993 chr8:110657171-110657187 chr8:110657085-110657096 chr8:110657023-110657039 chr8:110656985-110657001
30	EBF1	chr8:110656904-110657207	GM12878	blood:	n/a	n/a
31	USF1	chr8:110656223-110657476	HCT-116	colon:	n/a	chr8:110656916-110656932 chr8:110656977-110656993 chr8:110657171-110657187 chr8:110657085-110657096 chr8:110657023-110657039 chr8:110656985-110657001
32	USF1	chr8:110656826-110657275	A549	lung:	n/a	chr8:110656916-110656932 chr8:110656977-110656993 chr8:110657171-110657187 chr8:110657085-110657096 chr8:110657023-110657039 chr8:110656985-110657001
33	MTA3	chr8:110657125-110657935	GM12878	blood:	n/a	n/a
34	HDAC2	chr8:110656353-110658190	MCF-7	breast:	n/a	n/a
35	MAX	chr8:110656031-110657636	A549	lung:	n/a	chr8:110657086-110657097 chr8:110657087-110657096 chr8:110657086-110657096 chr8:110657086-110657096 chr8:110656320-110656329
36	MAX	chr8:110656345-110657452	A549	lung:	n/a	chr8:110657086-110657097 chr8:110657087-110657096 chr8:110657086-110657096 chr8:110657086-110657096
37	POLR2A	chr8:110656953-110657339	HUVEC	blood vessel:	n/a	n/a
38	RCOR1	chr8:110656468-110657646	K562	blood:	n/a	n/a
39	TBP	chr8:110656872-110657504	K562	blood:	n/a	n/a
40	USF2	chr8:110656902-110657393	H1-hESC	embryonic stem cell:	n/a	chr8:110656916-110656932 chr8:110656977-110656993 chr8:110657171-110657187 chr8:110657023-110657039 chr8:110656985-110657001
41	POLR2A	chr8:110656746-110657520	PANC-1	pancreas:	n/a	n/a
42	SIN3AK20	chr8:110656988-110657224	HepG2	liver:	n/a	n/a
43	CTBP2	chr8:110656273-110657777	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr8:110656803-110657200	MCF-7	breast:	n/a	n/a
45	SRF	chr8:110656799-110657203	H1-hESC	embryonic stem cell:	n/a	n/a
46	RCOR1	chr8:110656923-110657267	K562	blood:	n/a	n/a
47	SMARCB1	chr8:110656228-110657727	Hela-S3	cervix:	n/a	n/a
48	USF1	chr8:110656928-110657240	HepG2	liver:	n/a	chr8:110656977-110656993 chr8:110657171-110657187 chr8:110657085-110657096 chr8:110657023-110657039 chr8:110656985-110657001
49	CTCF	chr8:110657140-110657290	HRE	kidney:	n/a	n/a
50	POLR2A	chr8:110656797-110657307	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:110657174-110657224	AG09309	skin:	n/a
2	chr8:110657184-110657234	H1-hESC	embryonic stem cell:	embryo
3	chr8:110657174-110657224	A549	lung:	n/a
4	chr8:110657184-110657234	SK-N-SH	brain:	n/a
5	chr8:110657184-110657234	HMEC	breast:	n/a
6	chr8:110657182-110657232	RPTEC	kidney:	n/a
7	chr8:110657174-110657224	IMR90	lung:	fetal
8	chr8:110657184-110657234	PANC-1	pancreas:	n/a
9	chr8:110657182-110657232	HCM	heart:	n/a
10	chr8:110657182-110657232	Hela-S3	cervix:	n/a
11	chr8:110657184-110657234	HL-60	blood:	n/a
12	chr8:110657174-110657224	ECC-1	luminal epithelium:	n/a
13	chr8:110657182-110657232	HRE	kidney:	n/a
14	chr8:110657182-110657232	K562	blood:	n/a
15	chr8:110657174-110657224	ovcar-3	ovarian:	n/a
16	chr8:110657182-110657232	HRPEpiC	eye:	n/a
17	chr8:110657182-110657232	SKMC	muscle:	n/a
18	chr8:110657182-110657232	HIPEpiC	eye:	n/a
19	chr8:110657174-110657224	SK-N-SH_RA	brain:	n/a
20	chr8:110657184-110657234	SK-N-SH_RA	brain:	n/a
21	chr8:110657184-110657234	HRE	kidney:	n/a
22	chr8:110657182-110657232	PrEC	prostate:	n/a
23	chr8:110657182-110657232	NT2-D1	testis:	n/a
24	chr8:110657174-110657224	HIPEpiC	eye:	n/a
25	chr8:110657174-110657224	HCF	heart:	n/a
26	chr8:110657174-110657224	HAEpiC	amniotic membrane:	n/a
27	chr8:110657174-110657224	BJ	skin:	n/a
28	chr8:110657184-110657234	Hepatocyte	liver:	n/a
29	chr8:110657184-110657234	GM12891	blood:	n/a
30	chr8:110657174-110657224	H1-hESC	embryonic stem cell:	embryo
31	chr8:110657184-110657234	HEEpiC	esophagus:	n/a
32	chr8:110657184-110657234	NB4	blood:	n/a
33	chr8:110657182-110657232	HMEC	breast:	n/a
34	chr8:110657182-110657232	HUVEC	blood vessel:	n/a
35	chr8:110657174-110657224	HUVEC	blood vessel:	n/a
36	chr8:110657184-110657234	IMR90	lung:	fetal
37	chr8:110657182-110657232	Hepatocyte	liver:	n/a
38	chr8:110657182-110657232	HNPCEpiC	eye:	n/a
39	chr8:110657184-110657234	HepG2	liver:	n/a
40	chr8:110657184-110657234	BE2_C	brain:	n/a
41	chr8:110657184-110657234	HCF	heart:	n/a
42	chr8:110657182-110657232	HCPEpiC	choroid plexus:	n/a
43	chr8:110657182-110657232	GM12891	blood:	n/a
44	chr8:110657174-110657224	HRCEpiC	kidney:	n/a
45	chr8:110657182-110657232	HL-60	blood:	n/a
46	chr8:110657184-110657234	NHDF-neo	bronchial:	n/a
47	chr8:110657182-110657232	AG04449	skin:	fetal
48	chr8:110657174-110657224	MCF-7	breast:	n/a
49	chr8:110657184-110657234	K562	blood:	n/a
50	chr8:110657184-110657234	HRPEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:110550248..110554482-chr8:110655662..110659384,5	MCF-7	breast:
2	chr8:110551215..110554146-chr8:110654892..110657586,2	K562	blood:
3	chr8:110343048..110346506-chr8:110655063..110657604,4	MCF-7	breast:
4	chr8:110344753..110346999-chr8:110656055..110658588,2	MCF-7	breast:
5	chr8:110656684..110658658-chr8:110660535..110663260,4	MCF-7	breast:
6	chr8:110656100..110658662-chr8:110702004..110704480,2	MCF-7	breast:
7	chr8:110587726..110588239-chr8:110657058..110657597,2	MCF-7	breast:
8	chr8:110550854..110555574-chr8:110655521..110658971,8	MCF-7	breast:
9	chr17:26663154..26664082-chr8:110656871..110657706,2	Hela-S3	cervix:
10	chr8:110550857..110553602-chr8:110653501..110657228,5	K562	blood:
11	chr8:110345081..110347283-chr8:110656599..110658183,2	K562	blood:

Variant related genes	Relation type
SYBU	TF binding region
SYBU	CpG island
ENSG00000147642	Chromatin interaction
ENSG00000147654	Chromatin interaction
ENSG00000120533	Chromatin interaction
ENSG00000109079	Chromatin interaction
ENSG00000120526	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10092211	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10098728	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10106169	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10106568	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10106809	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11988264	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16879862	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16879869	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16879889	1.00[ASN][1000 genomes]
rs16879903	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16879906	1.00[ASN][1000 genomes]
rs28404625	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28465493	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28636990	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4313130	1.00[ASN][1000 genomes]
rs4506181	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56384256	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56838167	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57167766	1.00[ASN][1000 genomes]
rs57285880	1.00[ASN][1000 genomes]
rs58404081	1.00[ASN][1000 genomes]
rs58910462	1.00[ASN][1000 genomes]
rs59161508	1.00[ASN][1000 genomes]
rs59892422	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59981669	0.81[ASN][1000 genomes]
rs60841208	1.00[ASN][1000 genomes]
rs61437630	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61702273	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6469277	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6987830	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7011702	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7017357	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73321006	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73321029	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7817360	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7817773	1.00[ASN][1000 genomes]
rs7824472	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7825942	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7841022	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7842227	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7843208	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9297431	1.00[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	esv1849702	chr8:110594148-110683804	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110654800-110661200	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr8:110655000-110657600	Active TSS	Brain Anterior Caudate	brain
3	chr8:110655000-110657800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr8:110655200-110657800	Active TSS	Pancreas	Pancrea
5	chr8:110655200-110661200	Active TSS	Brain Angular Gyrus	brain
6	chr8:110655400-110657200	Active TSS	Liver	Liver
7	chr8:110655400-110658000	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr8:110655400-110658000	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr8:110655600-110657400	Active TSS	Brain Cingulate Gyrus	brain
10	chr8:110655600-110657600	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr8:110655600-110658000	Active TSS	Right Atrium	heart
12	chr8:110655800-110657800	Active TSS	Colon Smooth Muscle	Colon
13	chr8:110655800-110659400	Active TSS	Brain Hippocampus Middle	brain
14	chr8:110656000-110657200	Active TSS	Colonic Mucosa	Colon
15	chr8:110656000-110657200	Active TSS	HMEC	breast
16	chr8:110656000-110657400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
17	chr8:110656000-110657400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
18	chr8:110656000-110657400	Active TSS	Stomach Mucosa	stomach
19	chr8:110656000-110657400	Active TSS	Hela-S3	cervix
20	chr8:110656000-110657600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
21	chr8:110656000-110657600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr8:110656000-110657600	Active TSS	A549	lung
23	chr8:110656000-110657800	Active TSS	Gastric	stomach
24	chr8:110656000-110658000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
25	chr8:110656000-110658000	Bivalent/Poised TSS	Fetal Kidney	kidney
26	chr8:110656000-110658200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
27	chr8:110656200-110657200	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr8:110656200-110657400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr8:110656200-110657400	Active TSS	Rectal Mucosa Donor 31	rectum
30	chr8:110656200-110657400	Active TSS	NHEK	skin
31	chr8:110656200-110657600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr8:110656200-110657600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr8:110656200-110657800	Active TSS	Rectal Smooth Muscle	rectum
34	chr8:110656200-110658000	Active TSS	Aorta	Aorta
35	chr8:110656400-110657400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr8:110656400-110657400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr8:110656400-110657600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr8:110656400-110657600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
39	chr8:110656400-110657600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
40	chr8:110656400-110657600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
41	chr8:110656400-110657600	Bivalent/Poised TSS	Thymus	Thymus
42	chr8:110656400-110657800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr8:110656400-110657800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr8:110656400-110657800	Active TSS	Brain Substantia Nigra	brain
45	chr8:110656400-110657800	Active TSS	Fetal Intestine Small	intestine
46	chr8:110656600-110657400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
47	chr8:110656600-110657400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
48	chr8:110656600-110657400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr8:110656600-110657400	Active TSS	Brain Germinal Matrix	brain
50	chr8:110656600-110657400	Active TSS	Fetal Brain Female	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links