Variant report

Variant	rs532083352
Chromosome Location	chr8:124287120-124287121
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	MAZ	chr8:124284976-124287902	IMR90	lung:	n/a	chr8:124285686-124285695 chr8:124285949-124285965 chr8:124286257-124286266
2	POLR2A	chr8:124286742-124287220	GM12892	blood:	n/a	n/a
3	POLR2A	chr8:124285334-124287731	K562	blood:	n/a	n/a
4	CTCF	chr8:124287085-124287557	K562	blood:	n/a	n/a
5	FOXA1	chr8:124286595-124287153	HepG2	liver:	n/a	n/a
6	ELF1	chr8:124286290-124287221	K562	blood:	n/a	chr8:124286459-124286471 chr8:124286487-124286496
7	POLR2A	chr8:124285862-124287877	GM19193	blood:	n/a	n/a
8	POLR2A	chr8:124286119-124287628	GM10847	blood:	n/a	n/a
9	REST	chr8:124287046-124287794	PFSK-1	brain:	n/a	chr8:124287444-124287457 chr8:124287444-124287457 chr8:124287522-124287542
10	POLR2A	chr8:124286191-124287245	H1-neurons	neurons:	n/a	n/a
11	CTCF	chr8:124287092-124287443	K562	blood:	n/a	n/a
12	POLR2A	chr8:124286155-124287578	GM12878	blood:	n/a	n/a
13	MAFK	chr8:124286902-124287298	K562	blood:	n/a	n/a
14	MAX	chr8:124286023-124287804	ECC-1	luminal epithelium:	n/a	chr8:124286257-124286266
15	TAF1	chr8:124286964-124287868	GM12878	blood:	n/a	n/a
16	EGR1	chr8:124285536-124287846	MCF-7	breast:	n/a	chr8:124286733-124286746 chr8:124286133-124286143 chr8:124286847-124286857 chr8:124286666-124286680 chr8:124286665-124286678 chr8:124285674-124285687 chr8:124286848-124286858 chr8:124287646-124287659
17	REST	chr8:124286868-124287599	HepG2	liver:	n/a	chr8:124287444-124287457 chr8:124287000-124287020 chr8:124287444-124287457 chr8:124287522-124287542
18	POLR2A	chr8:124286985-124287480	ECC-1	luminal epithelium:	n/a	n/a
19	ELF1	chr8:124286097-124287854	GM12878	blood:	n/a	chr8:124286459-124286471 chr8:124286280-124286292 chr8:124286284-124286293 chr8:124286487-124286496
20	STAT5A	chr8:124286939-124287631	GM12878	blood:	n/a	chr8:124287492-124287504 chr8:124287510-124287521 chr8:124287318-124287330
21	JUND	chr8:124286984-124287612	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr8:124286171-124288155	PFSK-1	brain:	n/a	n/a
23	EP300	chr8:124286397-124287415	K562	blood:	n/a	chr8:124286565-124286581 chr8:124286462-124286471 chr8:124286648-124286664
24	FOXA2	chr8:124286617-124287283	A549	lung:	n/a	n/a
25	RAD21	chr8:124286925-124287528	Hela-S3	cervix:	n/a	n/a
26	SP1	chr8:124286366-124287370	GM12878	blood:	n/a	chr8:124286869-124286881 chr8:124286890-124286901 chr8:124286847-124286856 chr8:124287140-124287149 chr8:124286891-124286900 chr8:124286938-124286950 chr8:124287140-124287150 chr8:124286846-124286858 chr8:124286871-124286884 chr8:124286892-124286901 chr8:124286870-124286879 chr8:124286912-124286924 chr8:124286912-124286923 chr8:124286890-124286902 chr8:124286939-124286953 chr8:124286891-124286905 chr8:124286669-124286681 chr8:124286846-124286858 chr8:124287140-124287150 chr8:124286847-124286857 chr8:124286870-124286879 chr8:124287140-124287154 chr8:124286847-124286861 chr8:124287139-124287151 chr8:124287140-124287149 chr8:124286848-124286857 chr8:124286938-124286950 chr8:124286871-124286880 chr8:124286869-124286881 chr8:124286582-124286589 chr8:124286669-124286681 chr8:124286670-124286679 chr8:124286960-124286972 chr8:124286847-124286857 chr8:124286890-124286902 chr8:124286675-124286689 chr8:124287139-124287151 chr8:124287141-124287150 chr8:124286939-124286948 chr8:124286913-124286927 chr8:124286847-124286856 chr8:124286938-124286949 chr8:124286870-124286880
27	POLR2A	chr8:124287044-124287580	A549	lung:	n/a	n/a
28	TCF7L2	chr8:124286903-124287699	HEK293	kidney:	n/a	n/a
29	MAX	chr8:124285863-124287698	NB4	blood:	n/a	chr8:124285949-124285965 chr8:124286257-124286266
30	POLR2A	chr8:124286129-124287705	Gliobla	brain:	n/a	n/a
31	FOXA1	chr8:124286623-124287437	T-47D	breast:	n/a	n/a
32	HEY1	chr8:124286930-124287660	K562	blood:	n/a	chr8:124287439-124287454 chr8:124287170-124287185
33	MAZ	chr8:124285813-124287717	Hela-S3	cervix:	n/a	chr8:124285949-124285965 chr8:124286257-124286266
34	ETS1	chr8:124286224-124287612	K562	blood:	n/a	chr8:124286849-124286860 chr8:124287406-124287419 chr8:124286668-124286679 chr8:124286387-124286400 chr8:124286962-124286973 chr8:124286892-124286903
35	HCFC1	chr8:124285948-124287826	K562	blood:	n/a	n/a
36	MAZ	chr8:124285379-124287751	K562	blood:	n/a	chr8:124285686-124285695 chr8:124285949-124285965 chr8:124286257-124286266
37	POLR2A	chr8:124285664-124287623	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr8:124286894-124287879	HUVEC	blood vessel:	n/a	n/a
39	MXI1	chr8:124285828-124287663	Hela-S3	cervix:	n/a	n/a
40	TAF1	chr8:124285854-124287808	K562	blood:	n/a	n/a
41	NFYA	chr8:124286472-124287323	Hela-S3	cervix:	n/a	n/a
42	SIN3AK20	chr8:124286851-124287763	PFSK-1	brain:	n/a	n/a
43	CREB1	chr8:124286856-124287404	H1-hESC	embryonic stem cell:	n/a	n/a
44	MAFF	chr8:124286952-124287196	HepG2	liver:	n/a	n/a
45	POLR2A	chr8:124285058-124287932	K562	blood:	n/a	n/a
46	ELF1	chr8:124285565-124287888	MCF-7	breast:	n/a	chr8:124286459-124286471 chr8:124286280-124286292 chr8:124286284-124286293 chr8:124286031-124286043 chr8:124286487-124286496
47	TBP	chr8:124285884-124287628	K562	blood:	n/a	n/a
48	YY1	chr8:124285893-124287838	GM12878	blood:	n/a	chr8:124286673-124286682 chr8:124286374-124286388 chr8:124286492-124286500 chr8:124286134-124286143 chr8:124286029-124286043 chr8:124286456-124286470 chr8:124286494-124286502 chr8:124286284-124286293 chr8:124286491-124286501 chr8:124286848-124286857 chr8:124287643-124287654 chr8:124286459-124286473 chr8:124286491-124286513 chr8:124286921-124286943 chr8:124286029-124286038 chr8:124286487-124286496
49	POLR2A	chr8:124286225-124287705	HepG2	liver:	n/a	n/a
50	ZC3H11A	chr8:124287005-124287295	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:124287111-124287161	GM12878	blood:	n/a
2	chr8:124287111-124287161	SK-N-SH_RA	brain:	n/a
3	chr8:124287111-124287161	IMR90	lung:	fetal
4	chr8:124287111-124287161	Hepatocyte	liver:	n/a
5	chr8:124287111-124287161	AG04449	skin:	fetal
6	chr8:124287111-124287161	T-47D	breast:	n/a
7	chr8:124287111-124287161	AG09309	skin:	n/a
8	chr8:124287111-124287161	MCF-7	breast:	n/a
9	chr8:124287111-124287161	Caco-2	colon:	n/a
10	chr8:124287111-124287161	HEEpiC	esophagus:	n/a
11	chr8:124287111-124287161	HRE	kidney:	n/a
12	chr8:124287111-124287161	Jurkat	blood:	n/a
13	chr8:124287111-124287161	HAEpiC	amniotic membrane:	n/a
14	chr8:124287111-124287161	ECC-1	luminal epithelium:	n/a
15	chr8:124287111-124287161	H1-hESC	embryonic stem cell:	embryo
16	chr8:124287111-124287161	BJ	skin:	n/a
17	chr8:124287111-124287161	HUVEC	blood vessel:	n/a
18	chr8:124287111-124287161	HMEC	breast:	n/a
19	chr8:124287111-124287161	SK-N-SH	brain:	n/a
20	chr8:124287111-124287161	HNPCEpiC	eye:	n/a
21	chr8:124287111-124287161	HRCEpiC	kidney:	n/a
22	chr8:124287111-124287161	GM12892	blood:	n/a
23	chr8:124287111-124287161	A549	lung:	n/a
24	chr8:124287111-124287161	HRPEpiC	eye:	n/a
25	chr8:124287111-124287161	NB4	blood:	n/a
26	chr8:124287111-124287161	AG04450	lung:	fetal
27	chr8:124287111-124287161	HCF	heart:	n/a
28	chr8:124287111-124287161	HCPEpiC	choroid plexus:	n/a
29	chr8:124287111-124287161	HL-60	blood:	n/a
30	chr8:124287111-124287161	ProgFib	skin:	n/a
31	chr8:124287111-124287161	HEK293	kidney:	embryo
32	chr8:124287111-124287161	NHDF-neo	bronchial:	n/a
33	chr8:124287111-124287161	HPAEpiC	pulmonary alveolar:	n/a
34	chr8:124287111-124287161	PFSK-1	brain:	n/a
35	chr8:124287111-124287161	AG09319	gingival:	n/a
36	chr8:124287111-124287161	GM06990	blood:	n/a
37	chr8:124287111-124287161	SKMC	muscle:	n/a
38	chr8:124287111-124287161	PANC-1	pancreas:	n/a
39	chr8:124287111-124287161	MCF10A-Er-Src	breast:	n/a
40	chr8:124287111-124287161	HIPEpiC	eye:	n/a
41	chr8:124287111-124287161	GM19239	blood:	n/a
42	chr8:124287111-124287161	RPTEC	kidney:	n/a
43	chr8:124287111-124287161	LNCaP	prostate:	n/a
44	chr8:124287111-124287161	SK-N-MC	brain:	n/a
45	chr8:124287111-124287161	NHBE	bronchial:	n/a
46	chr8:124287111-124287161	NH-A	brain:	n/a
47	chr8:124287111-124287161	GM12891	blood:	n/a
48	chr8:124287111-124287161	AoSMC	blood vessel:	n/a
49	chr8:124287111-124287161	Hela-S3	cervix:	n/a
50	chr8:124287111-124287161	HCM	heart:	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:124285519..124287863-chr8:124381287..124384269,2	K562	blood:
2	chr8:124213969..124215797-chr8:124285287..124287584,2	K562	blood:
3	chr8:124192727..124195343-chr8:124286448..124288328,2	MCF-7	breast:
4	chr8:124261353..124265873-chr8:124284184..124288485,10	K562	blood:
5	chr8:124287117..124289356-chr8:124428879..124431490,3	MCF-7	breast:
6	chr8:124284678..124290463-chr8:124295890..124302199,8	K562	blood:
7	chr8:124283826..124290020-chr8:124406062..124410538,8	MCF-7	breast:
8	chr8:124285744..124288739-chr8:124298222..124302489,4	K562	blood:
9	chr8:124251855..124253716-chr8:124284789..124287618,4	MCF-7	breast:
10	chr8:124051710..124054469-chr8:124285028..124288032,4	MCF-7	breast:
11	chr8:124251904..124255350-chr8:124283702..124287510,7	MCF-7	breast:
12	chr8:124246568..124249527-chr8:124285493..124288576,4	K562	blood:
13	chr8:124286589..124288147-chr8:124780495..124782975,2	K562	blood:
14	chr8:124283849..124288367-chr8:124426037..124430184,7	K562	blood:
15	chr8:124283886..124287542-chr8:124381015..124385016,4	MCF-7	breast:
16	chr8:124286665..124288585-chr8:124408066..124410491,3	K562	blood:
17	chr8:124250772..124255194-chr8:124284813..124288648,11	K562	blood:
18	chr8:124285038..124289042-chr8:124427512..124430569,10	MCF-7	breast:
19	chr8:124273325..124275716-chr8:124284911..124287516,3	K562	blood:
20	chr8:124083827..124086138-chr8:124286636..124288524,2	K562	blood:
21	chr8:124285971..124288537-chr8:124358544..124361089,3	MCF-7	breast:
22	chr8:124283412..124288800-chr8:124404176..124410687,11	K562	blood:
23	chr8:124194984..124197268-chr8:124286516..124288692,3	MCF-7	breast:
24	chr8:124283829..124288838-chr8:124426117..124430573,9	K562	blood:
25	chr8:124264164..124266785-chr8:124286974..124288773,2	MCF-7	breast:
26	chr8:124250772..124256316-chr8:124284832..124288905,10	K562	blood:

Variant related genes	Relation type
ZHX1	TF binding region
ZHX1	CpG island
ENSG00000204949	Chromatin interaction
ENSG00000222607	Chromatin interaction
ENSG00000253336	Chromatin interaction
ENSG00000156802	Chromatin interaction
ENSG00000189376	Chromatin interaction
ENSG00000221461	Chromatin interaction
ENSG00000243498	Chromatin interaction
ENSG00000176853	Chromatin interaction
ENSG00000147689	Chromatin interaction
ENSG00000165156	Chromatin interaction
ENSG00000156795	Chromatin interaction
ENSG00000136986	Chromatin interaction
ENSG00000156787	Chromatin interaction
ENSG00000253258	Chromatin interaction
ENSG00000207704	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529364	chr8:123763846-124373809	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv1015249	chr8:124103504-124373949	Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv539741	chr8:124103504-124373949	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv831449	chr8:124276685-124471740	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	esv3405086	chr8:124285396-124287944	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 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	chr8:124283200-124287800	Active TSS	GM12878-XiMat	blood
2	chr8:124283200-124288000	Active TSS	K562	blood
3	chr8:124284000-124287400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr8:124284000-124288000	Active TSS	Ovary	ovary
5	chr8:124284000-124288200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr8:124284000-124288200	Active TSS	A549	lung
7	chr8:124284200-124287800	Active TSS	NHLF	lung
8	chr8:124284200-124288000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr8:124284200-124288200	Active TSS	Right Atrium	heart
10	chr8:124284200-124288200	Active TSS	Stomach Smooth Muscle	stomach
11	chr8:124284400-124288000	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr8:124284400-124288200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:124284400-124288200	Active TSS	Rectal Smooth Muscle	rectum
14	chr8:124284400-124288200	Active TSS	NHDF-Ad	bronchial
15	chr8:124284600-124287200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr8:124284600-124288200	Active TSS	Aorta	Aorta
17	chr8:124284800-124287400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:124285000-124287800	Active TSS	Esophagus	oesophagus
19	chr8:124285000-124288000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr8:124285000-124288000	Active TSS	Pancreas	Pancrea
21	chr8:124285000-124288000	Active TSS	Psoas Muscle	Psoas
22	chr8:124285000-124288200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr8:124285000-124288200	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr8:124285000-124288200	Active TSS	Fetal Intestine Large	intestine
25	chr8:124285000-124288200	Active TSS	Fetal Kidney	kidney
26	chr8:124285000-124288200	Active TSS	Left Ventricle	heart
27	chr8:124285000-124288200	Active TSS	Right Ventricle	heart
28	chr8:124285200-124287600	Active TSS	Hela-S3	cervix
29	chr8:124285200-124287800	Active TSS	Placenta Amnion	Placenta Amnion
30	chr8:124285200-124288000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:124285200-124288200	Active TSS	Fetal Intestine Small	intestine
32	chr8:124285200-124288200	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr8:124285400-124287800	Active TSS	Brain Hippocampus Middle	brain
34	chr8:124285400-124287800	Active TSS	Lung	lung
35	chr8:124285400-124288000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr8:124285400-124288000	Active TSS	Gastric	stomach
37	chr8:124285400-124288000	Active TSS	NHEK	skin
38	chr8:124285400-124288200	Active TSS	Osteobl	bone
39	chr8:124285600-124287800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr8:124285600-124287800	Active TSS	Small Intestine	intestine
41	chr8:124285600-124288000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr8:124285600-124288000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr8:124285600-124288000	Active TSS	Fetal Lung	lung
44	chr8:124285600-124288000	Active TSS	NH-A	brain
45	chr8:124285600-124288200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr8:124285600-124288200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr8:124285600-124288200	Active TSS	Brain Anterior Caudate	brain
48	chr8:124285600-124288200	Active TSS	Brain Cingulate Gyrus	brain
49	chr8:124285600-124288200	Active TSS	Rectal Mucosa Donor 31	rectum
50	chr8:124285600-124288200	Active TSS	Skeletal Muscle Female	skeletal muscle

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