Variant report

Variant	rs567626142
Chromosome Location	chr5:107716897-107716898
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	MAX	chr5:107716398-107718506	MCF-7	breast:	n/a	chr5:107718039-107718049 chr5:107717980-107717990
2	GABPA	chr5:107716734-107717078	HepG2	liver:	n/a	chr5:107716794-107716801 chr5:107716772-107716781
3	POLR2A	chr5:107716346-107718529	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr5:107716232-107718764	HepG2	liver:	n/a	n/a
5	POLR2A	chr5:107716806-107718768	K562	blood:	n/a	n/a
6	GABPA	chr5:107716702-107716993	HepG2	liver:	n/a	chr5:107716794-107716801 chr5:107716772-107716781
7	PML	chr5:107716728-107717465	MCF-7	breast:	n/a	n/a
8	POLR2A	chr5:107716114-107718913	GM15510	blood:	n/a	n/a
9	POLR2A	chr5:107716092-107719682	GM18505	blood:	n/a	n/a
10	HA-E2F1	chr5:107716864-107718348	Hela-S3	cervix:	n/a	chr5:107717134-107717144 chr5:107718318-107718327 chr5:107717312-107717322 chr5:107716868-107716877
11	CTCF	chr5:107716840-107716990	GM12868	blood:	n/a	chr5:107716970-107716983
12	SIN3AK20	chr5:107716709-107718364	PANC-1	pancreas:	n/a	n/a
13	POLR2A	chr5:107715759-107719979	GM12878	blood:	n/a	n/a
14	POLR2A	chr5:107716726-107718467	K562	blood:	n/a	n/a
15	FOXP2	chr5:107716720-107717273	PFSK-1	brain:	n/a	n/a
16	SIN3A	chr5:107716159-107716923	GM12878	blood:	n/a	chr5:107716621-107716632 chr5:107716519-107716530
17	TCF12	chr5:107716780-107717395	GM12878	blood:	n/a	chr5:107716927-107716937
18	TBP	chr5:107716779-107718421	K562	blood:	n/a	n/a
19	POLR2A	chr5:107716294-107718725	GM12878	blood:	n/a	n/a
20	POLR2A	chr5:107716331-107718391	A549	lung:	n/a	n/a
21	POLR2A	chr5:107716766-107718641	U87	brain:	n/a	n/a
22	POLR2A	chr5:107716728-107718646	HUVEC	blood vessel:	n/a	n/a
23	RELA	chr5:107715885-107718435	GM19193	blood:	n/a	n/a
24	TAF1	chr5:107716788-107718529	H1-neurons	neurons:	n/a	n/a
25	ELF1	chr5:107716141-107718747	GM12878	blood:	n/a	chr5:107717772-107717781 chr5:107718602-107718613 chr5:107717453-107717462 chr5:107717136-107717145 chr5:107716942-107716954 chr5:107717111-107717120 chr5:107717237-107717249 chr5:107717216-107717228 chr5:107716344-107716356 chr5:107717133-107717142 chr5:107717252-107717261 chr5:107716941-107716953 chr5:107717311-107717320
26	REST	chr5:107716742-107718460	H1-neurons	neurons:	n/a	chr5:107717833-107717846 chr5:107717091-107717101 chr5:107718021-107718041 chr5:107717888-107717901 chr5:107718014-107718027 chr5:107717964-107717974
27	E2F4	chr5:107716781-107718449	K562	blood:	n/a	chr5:107717134-107717144 chr5:107718318-107718327 chr5:107717312-107717322 chr5:107716868-107716877
28	MXI1	chr5:107716424-107718522	HepG2	liver:	n/a	n/a
29	MYC	chr5:107716854-107718437	MCF-7	breast:	n/a	chr5:107718039-107718049 chr5:107717980-107717990
30	GABPA	chr5:107716742-107717145	MCF-7	breast:	n/a	chr5:107716794-107716801 chr5:107716772-107716781
31	POLR2A	chr5:107716766-107718567	HL-60	blood:	n/a	n/a
32	YY1	chr5:107716172-107718510	HepG2	liver:	n/a	chr5:107716869-107716883 chr5:107716940-107716949 chr5:107716623-107716637 chr5:107716666-107716677 chr5:107717302-107717316 chr5:107717308-107717322 chr5:107717134-107717145 chr5:107717249-107717258 chr5:107716940-107716954 chr5:107717773-107717787 chr5:107717373-107717393 chr5:107716621-107716632 chr5:107717136-107717145 chr5:107716941-107716955 chr5:107717133-107717142 chr5:107717833-107717847 chr5:107716868-107716877
33	REST	chr5:107715933-107718983	H1-neurons	neurons:	n/a	chr5:107717833-107717846 chr5:107717091-107717101 chr5:107718021-107718041 chr5:107717888-107717901 chr5:107716683-107716696 chr5:107718559-107718572 chr5:107718014-107718027 chr5:107716557-107716564 chr5:107716650-107716660 chr5:107717964-107717974 chr5:107716405-107716418
34	POLR2A	chr5:107716236-107718850	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr5:107716195-107718836	ECC-1	luminal epithelium:	n/a	n/a
36	MAZ	chr5:107716093-107718651	K562	blood:	n/a	chr5:107716299-107716309 chr5:107718039-107718049 chr5:107717980-107717990 chr5:107716341-107716351
37	ELF1	chr5:107716634-107717356	MCF-7	breast:	n/a	chr5:107717136-107717145 chr5:107716942-107716954 chr5:107717111-107717120 chr5:107717237-107717249 chr5:107717216-107717228 chr5:107717133-107717142 chr5:107717252-107717261 chr5:107716941-107716953 chr5:107717311-107717320
38	MAX	chr5:107716837-107717146	A549	lung:	n/a	n/a
39	MAZ	chr5:107716225-107718541	HepG2	liver:	n/a	chr5:107716299-107716309 chr5:107718039-107718049 chr5:107717980-107717990 chr5:107716341-107716351
40	POLR2A	chr5:107716103-107719353	Hela-S3	cervix:	n/a	n/a
41	RCOR1	chr5:107716168-107718776	K562	blood:	n/a	n/a
42	POLR2A	chr5:107716715-107718425	GM12878	blood:	n/a	n/a
43	MAX	chr5:107716660-107718743	A549	lung:	n/a	chr5:107718039-107718049 chr5:107717980-107717990
44	POLR2A	chr5:107716866-107717417	U87	brain:	n/a	n/a
45	MAX	chr5:107716785-107718636	HepG2	liver:	n/a	chr5:107718039-107718049 chr5:107717980-107717990
46	YY1	chr5:107716893-107718390	GM12878	blood:	n/a	chr5:107716940-107716949 chr5:107717302-107717316 chr5:107717308-107717322 chr5:107717134-107717145 chr5:107717249-107717258 chr5:107716940-107716954 chr5:107717773-107717787 chr5:107717373-107717393 chr5:107717136-107717145 chr5:107716941-107716955 chr5:107717133-107717142 chr5:107717833-107717847
47	STAT5A	chr5:107716746-107718970	GM12878	blood:	n/a	chr5:107718912-107718923
48	GABPA	chr5:107716561-107717406	K562	blood:	n/a	chr5:107716794-107716801 chr5:107716772-107716781
49	MAX	chr5:107716841-107718586	K562	blood:	n/a	chr5:107718039-107718049 chr5:107717980-107717990
50	POLR2A	chr5:107716895-107718980	GM12891	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:107716890-107716940	HNPCEpiC	eye:	n/a
2	chr5:107716890-107716940	Hela-S3	cervix:	n/a
3	chr5:107716890-107716940	AG04449	skin:	fetal
4	chr5:107716890-107716940	K562	blood:	n/a
5	chr5:107716890-107716940	NB4	blood:	n/a
6	chr5:107716890-107716940	PANC-1	pancreas:	n/a
7	chr5:107716890-107716940	HRE	kidney:	n/a
8	chr5:107716890-107716940	AG10803	skin:	n/a
9	chr5:107716890-107716940	GM12891	blood:	n/a
10	chr5:107716890-107716940	ECC-1	luminal epithelium:	n/a
11	chr5:107716890-107716940	NHBE	bronchial:	n/a
12	chr5:107716890-107716940	SKMC	muscle:	n/a
13	chr5:107716890-107716940	HPAEpiC	pulmonary alveolar:	n/a
14	chr5:107716890-107716940	ProgFib	skin:	n/a
15	chr5:107716890-107716940	CMK	blood:	n/a
16	chr5:107716890-107716940	NT2-D1	testis:	n/a
17	chr5:107716890-107716940	A549	lung:	n/a
18	chr5:107716890-107716940	GM06990	blood:	n/a
19	chr5:107716890-107716940	AG04450	lung:	fetal
20	chr5:107716890-107716940	HL-60	blood:	n/a
21	chr5:107716890-107716940	GM12878	blood:	n/a
22	chr5:107716890-107716940	HCM	heart:	n/a
23	chr5:107716890-107716940	BJ	skin:	n/a
24	chr5:107716890-107716940	MCF10A-Er-Src	breast:	n/a
25	chr5:107716890-107716940	HEK293	kidney:	embryo
26	chr5:107716890-107716940	HIPEpiC	eye:	n/a
27	chr5:107716890-107716940	PrEC	prostate:	n/a
28	chr5:107716890-107716940	IMR90	lung:	fetal
29	chr5:107716890-107716940	HAEpiC	amniotic membrane:	n/a
30	chr5:107716890-107716940	GM19239	blood:	n/a
31	chr5:107716890-107716940	HCF	heart:	n/a
32	chr5:107716890-107716940	GM12892	blood:	n/a
33	chr5:107716890-107716940	Caco-2	colon:	n/a
34	chr5:107716890-107716940	PFSK-1	brain:	n/a
35	chr5:107716890-107716940	SK-N-SH	brain:	n/a
36	chr5:107716890-107716940	HRPEpiC	eye:	n/a
37	chr5:107716890-107716940	H1-hESC	embryonic stem cell:	embryo
38	chr5:107716890-107716940	HRCEpiC	kidney:	n/a
39	chr5:107716890-107716940	RPTEC	kidney:	n/a
40	chr5:107716890-107716940	Hepatocyte	liver:	n/a
41	chr5:107716890-107716940	HepG2	liver:	n/a
42	chr5:107716890-107716940	SK-N-MC	brain:	n/a
43	chr5:107716890-107716940	SAEC	small airway:	n/a
44	chr5:107716890-107716940	HEEpiC	esophagus:	n/a
45	chr5:107716890-107716940	MCF-7	breast:	n/a
46	chr5:107716890-107716940	BE2_C	brain:	n/a
47	chr5:107716890-107716940	T-47D	breast:	n/a
48	chr5:107716890-107716940	AG09319	gingival:	n/a
49	chr5:107716890-107716940	NHDF-neo	bronchial:	n/a
50	chr5:107716890-107716940	HUVEC	blood vessel:	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:107700578..107705838-chr5:107715421..107718628,5	K562	blood:
2	chr5:107703017..107709518-chr5:107714821..107720551,7	MCF-7	breast:
3	chr5:107716332..107718020-chr5:108743767..108745562,2	MCF-7	breast:
4	chr5:104726534..104729492-chr5:107716153..107718681,2	K562	blood:
5	chr5:102896315..102898883-chr5:107715677..107718329,2	K562	blood:
6	chr5:107700359..107701872-chr5:107716648..107719223,2	MCF-7	breast:
7	chr2:85766264..85769158-chr5:107716614..107718992,2	MCF-7	breast:
8	chr5:107703047..107709148-chr5:107715421..107721287,10	K562	blood:
9	chr5:107715063..107717038-chr5:110074735..110077588,2	K562	blood:
10	chr5:107699675..107702509-chr5:107715943..107717724,2	K562	blood:
11	chr12:120729283..120730124-chr5:107716642..107717534,2	Hela-S3	cervix:
12	chr17:60704450..60704981-chr5:107716389..107717318,2	NB4	blood:
13	chr5:107716823..107717792-chr5:150536829..150537518,2	HCT-116	colon:

Variant related genes	Relation type
FBXL17	TF binding region
FBXL17	CpG island
ENSG00000168906	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000164209	Chromatin interaction
ENSG00000112874	Chromatin interaction
ENSG00000251574	Chromatin interaction
ENSG00000145743	Chromatin interaction
ENSG00000198961	Chromatin interaction
ENSG00000011028	Chromatin interaction
ENSG00000197043	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	nsv882683	chr5:107476501-107769095	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv882686	chr5:107564746-107769095	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv882689	chr5:107595383-108299744	Enhancers ZNF genes & repeats Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	esv2755544	chr5:107614101-107748101	Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	esv3338064	chr5:107716078-107718926	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 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	chr5:107714200-107718200	Active TSS	Fetal Brain Female	brain
2	chr5:107714200-107718600	Active TSS	GM12878-XiMat	blood
3	chr5:107714400-107718400	Active TSS	Brain Cingulate Gyrus	brain
4	chr5:107714400-107718600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr5:107715000-107717000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr5:107715000-107718800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr5:107715000-107719000	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr5:107715000-107719000	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr5:107715200-107718200	Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr5:107715200-107718400	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr5:107715200-107718600	Active TSS	NHLF	lung
12	chr5:107715400-107718400	Active TSS	Fetal Stomach	stomach
13	chr5:107715400-107718600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr5:107715400-107718600	Active TSS	Aorta	Aorta
15	chr5:107715400-107719000	Active TSS	Psoas Muscle	Psoas
16	chr5:107715400-107719200	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr5:107715600-107718200	Active TSS	K562	blood
18	chr5:107715600-107718400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
19	chr5:107715600-107718400	Active TSS	Brain Germinal Matrix	brain
20	chr5:107715600-107718400	Active TSS	HSMMtube	muscle
21	chr5:107715600-107718600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr5:107715600-107718600	Active TSS	Right Ventricle	heart
23	chr5:107715600-107718600	Active TSS	Stomach Smooth Muscle	stomach
24	chr5:107715600-107718600	Active TSS	Thymus	Thymus
25	chr5:107715600-107718800	Active TSS	Pancreas	Pancrea
26	chr5:107715600-107719000	Active TSS	Colonic Mucosa	Colon
27	chr5:107715600-107719000	Active TSS	Fetal Intestine Large	intestine
28	chr5:107715600-107719000	Active TSS	Fetal Intestine Small	intestine
29	chr5:107715600-107719000	Active TSS	Fetal Muscle Trunk	muscle
30	chr5:107715800-107718200	Active TSS	Muscle Satellite Cultured Cells	--
31	chr5:107715800-107718400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr5:107715800-107718400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr5:107715800-107718400	Active TSS	Primary hematopoietic stem cells short term culture	blood
34	chr5:107715800-107718400	Active TSS	Brain Angular Gyrus	brain
35	chr5:107715800-107718400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
36	chr5:107715800-107718400	Active TSS	Placenta Amnion	Placenta Amnion
37	chr5:107715800-107718600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr5:107715800-107718600	Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr5:107715800-107718600	Active TSS	Left Ventricle	heart
40	chr5:107715800-107718600	Active TSS	Rectal Mucosa Donor 29	rectum
41	chr5:107715800-107718600	Active TSS	NHDF-Ad	bronchial
42	chr5:107715800-107718800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
43	chr5:107715800-107718800	Active TSS	H9 Cell Line	embryonic stem cell
44	chr5:107715800-107718800	Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr5:107715800-107718800	Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr5:107715800-107718800	Active TSS	HSMM	muscle
47	chr5:107716000-107717200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr5:107716000-107718200	Active TSS	Hela-S3	cervix
49	chr5:107716000-107718200	Active TSS	HMEC	breast
50	chr5:107716000-107718400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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