Variant report

Variant	rs369586345
Chromosome Location	chr8:103666999-103667000
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	E2F4	chr8:103665853-103667017	K562	blood:	n/a	chr8:103666249-103666259 chr8:103666776-103666786 chr8:103666808-103666820
2	POLR2A	chr8:103665892-103671067	GM12878	blood:	n/a	n/a
3	POLR2A	chr8:103665982-103667018	GM10847	blood:	n/a	n/a
4	POLR2A	chr8:103658807-103668119	HepG2	liver:	n/a	n/a
5	POLR2A	chr8:103658281-103671095	U87	brain:	n/a	n/a
6	MAX	chr8:103666713-103667242	K562	blood:	n/a	chr8:103666996-103667006 chr8:103666814-103666823
7	POLR2A	chr8:103665935-103670221	GM12892	blood:	n/a	n/a
8	TCF12	chr8:103665520-103669189	MCF-7	breast:	n/a	chr8:103667041-103667051 chr8:103667095-103667105 chr8:103666989-103666999
9	MAZ	chr8:103665768-103669993	Hela-S3	cervix:	n/a	chr8:103666317-103666326 chr8:103668327-103668342 chr8:103666996-103667006 chr8:103666326-103666336 chr8:103666639-103666649 chr8:103666814-103666823 chr8:103666700-103666710 chr8:103668327-103668336 chr8:103668331-103668340
10	POLR2A	chr8:103666482-103669994	SK-N-MC	brain:	n/a	n/a
11	SIN3AK20	chr8:103665549-103670042	MCF-7	breast:	n/a	n/a
12	POLR2A	chr8:103665567-103668172	SK-N-SH	brain:	n/a	n/a
13	TAF1	chr8:103665987-103667184	HepG2	liver:	n/a	n/a
14	POLR2A	chr8:103665732-103669242	Hela-S3	cervix:	n/a	n/a
15	ZBTB7A	chr8:103666642-103670099	ECC-1	luminal epithelium:	n/a	chr8:103667727-103667736 chr8:103666866-103666875 chr8:103667201-103667208
16	POLR2A	chr8:103665774-103668767	K562	blood:	n/a	n/a
17	POLR2A	chr8:103665746-103670407	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr8:103665722-103669269	HCT-116	colon:	n/a	n/a
19	SMARCB1	chr8:103665893-103670245	Hela-S3	cervix:	n/a	chr8:103666203-103666212
20	MAZ	chr8:103665775-103669282	GM12878	blood:	n/a	chr8:103666317-103666326 chr8:103668327-103668342 chr8:103666996-103667006 chr8:103666326-103666336 chr8:103666639-103666649 chr8:103666814-103666823 chr8:103666700-103666710 chr8:103668327-103668336 chr8:103668331-103668340
21	POLR2A	chr8:103665957-103669301	GM12878	blood:	n/a	n/a
22	GABPA	chr8:103665825-103667372	K562	blood:	n/a	chr8:103666240-103666249 chr8:103666997-103667006
23	TCF3	chr8:103666677-103667040	GM12878	blood:	n/a	n/a
24	REST	chr8:103665724-103667048	K562	blood:	n/a	chr8:103666990-103667000 chr8:103666891-103666901 chr8:103666777-103666787 chr8:103666686-103666696 chr8:103666715-103666733 chr8:103666570-103666580
25	MXI1	chr8:103665181-103670954	IMR90	lung:	n/a	chr8:103668330-103668339 chr8:103668328-103668337 chr8:103667095-103667104
26	POLR2A	chr8:103665806-103668606	K562	blood:	n/a	n/a
27	ZNF143	chr8:103665850-103669208	GM12878	blood:	n/a	chr8:103668275-103668293 chr8:103668684-103668694 chr8:103666642-103666652 chr8:103666249-103666259
28	EGR1	chr8:103665496-103667214	MCF-7	breast:	n/a	chr8:103666318-103666327 chr8:103666312-103666321 chr8:103666813-103666823 chr8:103666701-103666711 chr8:103666938-103666948 chr8:103666866-103666879 chr8:103666812-103666825 chr8:103666309-103666322 chr8:103666867-103666877 chr8:103666309-103666323 chr8:103667181-103667191 chr8:103666315-103666328 chr8:103666812-103666825 chr8:103666309-103666322 chr8:103666812-103666825 chr8:103666308-103666323 chr8:103666315-103666329 chr8:103666813-103666824 chr8:103666997-103667007 chr8:103666326-103666339 chr8:103666309-103666322 chr8:103666807-103666829 chr8:103666809-103666823 chr8:103666309-103666322 chr8:103666812-103666825 chr8:103666813-103666822 chr8:103666998-103667011 chr8:103666317-103666327 chr8:103666813-103666823 chr8:103666638-103666648 chr8:103666811-103666825
29	ZBTB7A	chr8:103666574-103668547	K562	blood:	n/a	chr8:103667727-103667736 chr8:103666866-103666875 chr8:103667201-103667208
30	POLR2A	chr8:103665784-103668679	K562	blood:	n/a	n/a
31	CEBPD	chr8:103665655-103667166	K562	blood:	n/a	chr8:103665894-103665905 chr8:103665894-103665905
32	FOXM1	chr8:103665751-103669298	MCF-7	breast:	n/a	n/a
33	JUN	chr8:103665530-103670942	K562	blood:	n/a	chr8:103667751-103667765 chr8:103667305-103667314 chr8:103667355-103667366 chr8:103668703-103668712 chr8:103666200-103666211 chr8:103666203-103666212
34	EGR1	chr8:103665613-103670045	HCT-116	colon:	n/a	chr8:103667475-103667488 chr8:103666318-103666327 chr8:103667949-103667962 chr8:103666312-103666321 chr8:103666813-103666823 chr8:103666701-103666711 chr8:103666938-103666948 chr8:103668212-103668225 chr8:103668406-103668416 chr8:103666866-103666879 chr8:103666812-103666825 chr8:103666309-103666322 chr8:103666867-103666877 chr8:103666309-103666323 chr8:103669058-103669072 chr8:103667181-103667191 chr8:103666315-103666328 chr8:103666812-103666825 chr8:103668908-103668921 chr8:103666309-103666322 chr8:103666812-103666825 chr8:103666308-103666323 chr8:103666315-103666329 chr8:103666813-103666824 chr8:103666997-103667007 chr8:103666326-103666339 chr8:103666309-103666322 chr8:103666807-103666829 chr8:103666809-103666823 chr8:103666309-103666322 chr8:103666812-103666825 chr8:103666813-103666822 chr8:103668400-103668415 chr8:103669056-103669071 chr8:103666998-103667011 chr8:103666317-103666327 chr8:103666813-103666823 chr8:103666638-103666648 chr8:103666811-103666825 chr8:103668422-103668432
35	POLR2A	chr8:103665966-103669877	Raji	blood:	n/a	n/a
36	TAF1	chr8:103666934-103667265	K562	blood:	n/a	n/a
37	POLR2A	chr8:103665780-103668700	K562	blood:	n/a	n/a
38	GATA3	chr8:103665726-103667173	A549	lung:	n/a	n/a
39	EP300	chr8:103665662-103669044	ECC-1	luminal epithelium:	n/a	chr8:103667927-103667936 chr8:103667016-103667032 chr8:103668687-103668703 chr8:103668225-103668238 chr8:103666969-103666978 chr8:103666764-103666780 chr8:103666865-103666874 chr8:103667010-103667026
40	SMC3	chr8:103665703-103667311	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr8:103664516-103670221	PFSK-1	brain:	n/a	n/a
42	MYC	chr8:103665789-103667239	Hela-S3	cervix:	n/a	chr8:103666317-103666326 chr8:103666996-103667006 chr8:103666326-103666336 chr8:103666639-103666649 chr8:103666814-103666823 chr8:103666700-103666710
43	POLR2A	chr8:103665834-103671111	GM19099	blood:	n/a	n/a
44	EP300	chr8:103665654-103667163	SK-N-SH	brain:	n/a	chr8:103667016-103667032 chr8:103666969-103666978 chr8:103666764-103666780 chr8:103666865-103666874 chr8:103667010-103667026
45	E2F6	chr8:103666686-103667217	K562	blood:	n/a	chr8:103666776-103666786 chr8:103667006-103667018 chr8:103666808-103666820
46	RCOR1	chr8:103665758-103667036	HepG2	liver:	n/a	n/a
47	NR3C1	chr8:103665872-103667037	A549	lung:	n/a	chr8:103666203-103666212
48	POLR2A	chr8:103665771-103668727	K562	blood:	n/a	n/a
49	POLR2A	chr8:103665660-103670378	Hela-S3	cervix:	n/a	n/a
50	JUND	chr8:103665803-103667347	A549	lung:	n/a	chr8:103667305-103667314 chr8:103666200-103666211 chr8:103666203-103666212 chr8:103666202-103666213

No.	Distal block	Cell Line	Cell type
1	chr17:57922210..57925041-chr8:103666708..103669073,2	MCF-7	breast:
2	chr8:103251288..103253851-chr8:103665938..103668117,3	MCF-7	breast:
3	chr8:103422007..103426020-chr8:103666229..103670037,6	K562	blood:
4	chr8:103653489..103674518-chr8:103809987..103832119,275	MCF-7	breast:
5	chr8:103665043..103667902-chr8:104032502..104034925,2	K562	blood:
6	chr6:26215473..26218378-chr8:103666198..103668102,2	MCF-7	breast:
7	chr8:102504729..102507317-chr8:103666096..103668970,4	MCF-7	breast:
8	chr8:103420666..103426323-chr8:103664417..103668286,11	K562	blood:
9	chr8:103644446..103678119-chr8:103815618..103829807,419	MCF-7	breast:
10	chr8:103666334..103668063-chr9:139620100..139622270,2	MCF-7	breast:
11	chr8:103251457..103253123-chr8:103664713..103667608,2	K562	blood:
12	chr8:103570250..103572915-chr8:103665541..103668437,2	MCF-7	breast:
13	chr17:58154613..58157285-chr8:103665934..103668850,2	MCF-7	breast:
14	chr8:103665615..103668454-chr9:19407713..19410281,2	MCF-7	breast:
15	chr8:103666370..103667135-chr8:103818610..103819735,3	MCF-7	breast:
16	chr8:103424815..103426910-chr8:103666602..103668807,2	MCF-7	breast:
17	chr8:103664543..103668719-chr8:103874742..103878936,8	MCF-7	breast:
18	chr8:103540947..103542816-chr8:103666262..103668771,2	K562	blood:
19	chr8:103666355..103668286-chr8:103744275..103747247,3	K562	blood:
20	chr20:60639221..60642112-chr8:103666965..103668940,2	MCF-7	breast:
21	chr8:103666250..103669123-chr8:103743664..103749128,10	MCF-7	breast:
22	chr8:103251275..103253446-chr8:103664809..103667608,3	K562	blood:
23	chr8:103657627..103672045-chr8:103815832..103826635,94	K562	blood:
24	chr8:103666355..103667903-chr8:103744544..103747087,2	K562	blood:
25	chr19:39897216..39897940-chr8:103666800..103667651,2	Hela-S3	cervix:
26	chr6:74229302..74231632-chr8:103666566..103668459,2	MCF-7	breast:
27	chr11:62620136..62622532-chr8:103666422..103668667,2	K562	blood:
28	chr10:49514295..49515241-chr8:103666647..103667544,2	Hela-S3	cervix:
29	chr1:149222331..149224721-chr8:103666579..103669168,2	MCF-7	breast:
30	chr8:103666551..103669632-chr8:103873253..103876487,4	K562	blood:
31	chr8:103659827..103671648-chr8:103816894..103829599,93	K562	blood:

Variant related genes	Relation type
KLF10	TF binding region
ENSG00000266799	Chromatin interaction
ENSG00000187990	Chromatin interaction
ENSG00000068097	Chromatin interaction
ENSG00000168274	Chromatin interaction
ENSG00000253669	Chromatin interaction
ENSG00000267416	Chromatin interaction
ENSG00000201524	Chromatin interaction
ENSG00000253633	Chromatin interaction
ENSG00000048392	Chromatin interaction
ENSG00000083307	Chromatin interaction
ENSG00000254236	Chromatin interaction
ENSG00000206737	Chromatin interaction
ENSG00000155096	Chromatin interaction
ENSG00000265306	Chromatin interaction
ENSG00000155097	Chromatin interaction
ENSG00000156508	Chromatin interaction
ENSG00000255717	Chromatin interaction
ENSG00000177076	Chromatin interaction
ENSG00000253320	Chromatin interaction
ENSG00000128016	Chromatin interaction
ENSG00000130699	Chromatin interaction
ENSG00000233016	Chromatin interaction
ENSG00000155087	Chromatin interaction
ENSG00000246263	Chromatin interaction
ENSG00000104517	Chromatin interaction
ENSG00000107643	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	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv1028329	chr8:103574775-103684362	Strong transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv3409107	chr8:103665226-103668974	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	58 gene(s)	inside rSNPs	diseases
4	esv3373038	chr8:103665601-103668149	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	57 gene(s)	inside rSNPs	diseases
5	esv3387688	chr8:103665726-103668424	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	57 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	chr8:103664000-103667200	Active TSS	Fetal Brain Female	brain
2	chr8:103664000-103669600	Active TSS	Psoas Muscle	Psoas
3	chr8:103664200-103669200	Active TSS	HSMMtube	muscle
4	chr8:103664200-103670000	Active TSS	Right Atrium	heart
5	chr8:103664400-103668800	Active TSS	Right Ventricle	heart
6	chr8:103664600-103667000	Active TSS	Brain Germinal Matrix	brain
7	chr8:103664600-103668600	Active TSS	Stomach Smooth Muscle	stomach
8	chr8:103664800-103669800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr8:103665000-103667200	Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr8:103665000-103667600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr8:103665000-103668800	Active TSS	Fetal Intestine Large	intestine
12	chr8:103665000-103668800	Active TSS	Fetal Intestine Small	intestine
13	chr8:103665000-103668800	Active TSS	Placenta	Placenta
14	chr8:103665000-103669000	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr8:103665000-103670200	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr8:103665200-103667200	Active TSS	Fetal Stomach	stomach
17	chr8:103665200-103667200	Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr8:103665200-103667400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr8:103665200-103667600	Active TSS	Colonic Mucosa	Colon
20	chr8:103665200-103668800	Active TSS	K562	blood
21	chr8:103665200-103669000	Active TSS	Colon Smooth Muscle	Colon
22	chr8:103665200-103669200	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr8:103665200-103670000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr8:103665200-103670000	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr8:103665200-103670000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr8:103665400-103667200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr8:103665400-103667200	Active TSS	Cortex derived primary cultured neurospheres	brain
28	chr8:103665400-103667200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
29	chr8:103665400-103667200	Active TSS	HepG2	liver
30	chr8:103665400-103667400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
31	chr8:103665400-103668600	Active TSS	Fetal Muscle Leg	muscle
32	chr8:103665400-103668800	Active TSS	Primary monocytes fromperipheralblood	blood
33	chr8:103665400-103668800	Active TSS	Liver	Liver
34	chr8:103665400-103669000	Active TSS	H1 Cell Line	embryonic stem cell
35	chr8:103665400-103669000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:103665400-103669000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr8:103665400-103669600	Active TSS	GM12878-XiMat	blood
38	chr8:103665600-103667000	Active TSS	Fetal Muscle Trunk	muscle
39	chr8:103665600-103667200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
40	chr8:103665600-103667200	Active TSS	Primary T cells fromperipheralblood	blood
41	chr8:103665600-103667200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
42	chr8:103665600-103667200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr8:103665600-103667200	Active TSS	Fetal Thymus	thymus
44	chr8:103665600-103667200	Active TSS	Thymus	Thymus
45	chr8:103665600-103667400	Active TSS	Brain Cingulate Gyrus	brain
46	chr8:103665600-103667400	Active TSS	Rectal Mucosa Donor 29	rectum
47	chr8:103665600-103668800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr8:103665600-103668800	Active TSS	Rectal Mucosa Donor 31	rectum
49	chr8:103665600-103669000	Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr8:103665600-103669000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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