Variant report

Variant	rs374988658
Chromosome Location	chr5:107717637-107717638
allele	G/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	PAX5	chr5:107717400-107718548	GM12878	blood:	n/a	n/a
2	NANOG	chr5:107717562-107717976	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAX	chr5:107716398-107718506	MCF-7	breast:	n/a	chr5:107718039-107718049 chr5:107717980-107717990
4	ZNF263	chr5:107716916-107718608	HEK293-T-REx	kidney:	n/a	chr5:107717103-107717112
5	POLR2A	chr5:107716346-107718529	HUVEC	blood vessel:	n/a	n/a
6	BCL3	chr5:107717470-107718506	GM12878	blood:	n/a	chr5:107717772-107717785 chr5:107717718-107717731 chr5:107717832-107717845 chr5:107718134-107718147 chr5:107717837-107717846 chr5:107717697-107717710 chr5:107717884-107717897
7	MAX	chr5:107717287-107718583	SK-N-SH	brain:	n/a	chr5:107718039-107718049 chr5:107717980-107717990
8	POLR2A	chr5:107716232-107718764	HepG2	liver:	n/a	n/a
9	POLR2A	chr5:107716979-107718954	GM12891	blood:	n/a	n/a
10	POLR2A	chr5:107716950-107719013	HCT-116	colon:	n/a	n/a
11	KAP1	chr5:107717576-107718852	HEK293	kidney:	n/a	n/a
12	POLR2A	chr5:107716806-107718768	K562	blood:	n/a	n/a
13	TCF7L2	chr5:107717481-107718495	PANC-1	pancreas:	n/a	n/a
14	SP4	chr5:107717536-107718329	H1-hESC	embryonic stem cell:	n/a	chr5:107717831-107717847 chr5:107717833-107717849
15	POLR2A	chr5:107716114-107718913	GM15510	blood:	n/a	n/a
16	POLR2A	chr5:107716092-107719682	GM18505	blood:	n/a	n/a
17	POLR2A	chr5:107717314-107718481	HepG2	liver:	n/a	n/a
18	HA-E2F1	chr5:107716864-107718348	Hela-S3	cervix:	n/a	chr5:107717134-107717144 chr5:107718318-107718327 chr5:107717312-107717322 chr5:107716868-107716877
19	SIN3AK20	chr5:107716709-107718364	PANC-1	pancreas:	n/a	n/a
20	POLR2A	chr5:107715759-107719979	GM12878	blood:	n/a	n/a
21	POLR2A	chr5:107716726-107718467	K562	blood:	n/a	n/a
22	E2F4	chr5:107717627-107718392	GM12878	blood:	n/a	chr5:107718318-107718327
23	TAF7	chr5:107717390-107718357	H1-hESC	embryonic stem cell:	n/a	n/a
24	TBP	chr5:107716779-107718421	K562	blood:	n/a	n/a
25	ETS1	chr5:107717627-107718143	K562	blood:	n/a	chr5:107717834-107717845 chr5:107717772-107717783
26	HEY1	chr5:107717021-107718431	HepG2	liver:	n/a	chr5:107717140-107717155 chr5:107717043-107717058 chr5:107717451-107717466 chr5:107717771-107717786 chr5:107717084-107717099
27	POLR2A	chr5:107716294-107718725	GM12878	blood:	n/a	n/a
28	POLR2A	chr5:107716331-107718391	A549	lung:	n/a	n/a
29	POLR2A	chr5:107716766-107718641	U87	brain:	n/a	n/a
30	POLR2A	chr5:107716728-107718646	HUVEC	blood vessel:	n/a	n/a
31	SMARCC1	chr5:107716961-107718678	Hela-S3	cervix:	n/a	n/a
32	JUND	chr5:107717461-107718339	H1-hESC	embryonic stem cell:	n/a	n/a
33	RELA	chr5:107715885-107718435	GM19193	blood:	n/a	n/a
34	TAF1	chr5:107716788-107718529	H1-neurons	neurons:	n/a	n/a
35	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
36	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
37	E2F4	chr5:107716781-107718449	K562	blood:	n/a	chr5:107717134-107717144 chr5:107718318-107718327 chr5:107717312-107717322 chr5:107716868-107716877
38	MXI1	chr5:107716424-107718522	HepG2	liver:	n/a	n/a
39	MYC	chr5:107716854-107718437	MCF-7	breast:	n/a	chr5:107718039-107718049 chr5:107717980-107717990
40	MAX	chr5:107717312-107718516	H1-hESC	embryonic stem cell:	n/a	chr5:107718039-107718049 chr5:107717980-107717990
41	CTCF	chr5:107717540-107717690	GM12875	blood:	n/a	n/a
42	POLR2A	chr5:107716766-107718567	HL-60	blood:	n/a	n/a
43	REST	chr5:107717358-107718464	A549	lung:	n/a	chr5:107717833-107717846 chr5:107718021-107718041 chr5:107717888-107717901 chr5:107718014-107718027 chr5:107717964-107717974
44	TBP	chr5:107716945-107718435	HepG2	liver:	n/a	n/a
45	YY1	chr5:107717563-107718376	HCT-116	colon:	n/a	chr5:107717773-107717787 chr5:107717833-107717847
46	POLR2A	chr5:107717017-107718808	HL-60	blood:	n/a	n/a
47	GABPA	chr5:107717468-107718553	K562	blood:	n/a	chr5:107718016-107718030
48	JUN	chr5:107717191-107718347	K562	blood:	n/a	n/a
49	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
50	TBL1XR1	chr5:107717209-107718575	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:107717630-107717680	AG04449	skin:	fetal
2	chr5:107717630-107717680	SK-N-SH_RA	brain:	n/a
3	chr5:107717630-107717680	PANC-1	pancreas:	n/a
4	chr5:107717630-107717680	NB4	blood:	n/a
5	chr5:107717630-107717680	SK-N-MC	brain:	n/a
6	chr5:107717630-107717680	A549	lung:	n/a
7	chr5:107717630-107717680	GM19239	blood:	n/a
8	chr5:107717630-107717680	GM06990	blood:	n/a
9	chr5:107717630-107717680	U87	brain:	n/a
10	chr5:107717630-107717680	NT2-D1	testis:	n/a
11	chr5:107717630-107717680	AG10803	skin:	n/a
12	chr5:107717630-107717680	HAEpiC	amniotic membrane:	n/a
13	chr5:107717630-107717680	T-47D	breast:	n/a
14	chr5:107717630-107717680	Jurkat	blood:	n/a
15	chr5:107717630-107717680	AG04450	lung:	fetal
16	chr5:107717630-107717680	ECC-1	luminal epithelium:	n/a
17	chr5:107717630-107717680	Hela-S3	cervix:	n/a
18	chr5:107717630-107717680	HCM	heart:	n/a
19	chr5:107717630-107717680	RPTEC	kidney:	n/a
20	chr5:107717630-107717680	PFSK-1	brain:	n/a
21	chr5:107717630-107717680	MCF10A-Er-Src	breast:	n/a
22	chr5:107717630-107717680	BJ	skin:	n/a
23	chr5:107717630-107717680	K562	blood:	n/a
24	chr5:107717630-107717680	HCPEpiC	choroid plexus:	n/a
25	chr5:107717630-107717680	MCF-7	breast:	n/a
26	chr5:107717630-107717680	ovcar-3	ovarian:	n/a
27	chr5:107717630-107717680	H1-hESC	embryonic stem cell:	embryo
28	chr5:107717630-107717680	NH-A	brain:	n/a
29	chr5:107717630-107717680	HRCEpiC	kidney:	n/a
30	chr5:107717630-107717680	SKMC	muscle:	n/a
31	chr5:107717630-107717680	HEK293	kidney:	embryo
32	chr5:107717630-107717680	HCT-116	colon:	n/a
33	chr5:107717630-107717680	HNPCEpiC	eye:	n/a
34	chr5:107717630-107717680	GM12892	blood:	n/a
35	chr5:107717630-107717680	CMK	blood:	n/a
36	chr5:107717630-107717680	HL-60	blood:	n/a
37	chr5:107717630-107717680	SAEC	small airway:	n/a
38	chr5:107717630-107717680	NHDF-neo	bronchial:	n/a
39	chr5:107717630-107717680	IMR90	lung:	fetal
40	chr5:107717630-107717680	Caco-2	colon:	n/a
41	chr5:107717630-107717680	ProgFib	skin:	n/a
42	chr5:107717630-107717680	HRPEpiC	eye:	n/a
43	chr5:107717630-107717680	PrEC	prostate:	n/a
44	chr5:107717630-107717680	GM12891	blood:	n/a
45	chr5:107717630-107717680	HEEpiC	esophagus:	n/a
46	chr5:107717630-107717680	HMEC	breast:	n/a
47	chr5:107717630-107717680	AG09319	gingival:	n/a
48	chr5:107717630-107717680	HepG2	liver:	n/a
49	chr5:107717630-107717680	BE2_C	brain:	n/a
50	chr5:107717630-107717680	HRE	kidney:	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:107700578..107705838-chr5:107715421..107718628,5	K562	blood:
2	chr17:8076579..8077271-chr5:107717045..107717954,2	Hela-S3	cervix:
3	chr1:11968697..11971206-chr5:107717145..107718846,2	MCF-7	breast:
4	chr17:56707838..56709408-chr5:107717077..107719444,2	MCF-7	breast:
5	chr5:107717195..107717792-chr6:27098236..27098991,2	Hela-S3	cervix:
6	chr5:107703017..107709518-chr5:107714821..107720551,7	MCF-7	breast:
7	chr5:107716332..107718020-chr5:108743767..108745562,2	MCF-7	breast:
8	chr5:104726534..104729492-chr5:107716153..107718681,2	K562	blood:
9	chr5:102896315..102898883-chr5:107715677..107718329,2	K562	blood:
10	chr12:53845689..53846348-chr5:107717435..107718408,2	Hela-S3	cervix:
11	chr5:107700359..107701872-chr5:107716648..107719223,2	MCF-7	breast:
12	chr5:107717243..107719303-chr5:108745580..108747696,2	MCF-7	breast:
13	chr2:85766264..85769158-chr5:107716614..107718992,2	MCF-7	breast:
14	chr5:107703047..107709148-chr5:107715421..107721287,10	K562	blood:
15	chr5:107699675..107702509-chr5:107715943..107717724,2	K562	blood:
16	chr12:49524532..49525108-chr5:107717478..107718091,2	Hela-S3	cervix:
17	chr5:107716823..107717792-chr5:150536829..150537518,2	HCT-116	colon:

Variant related genes	Relation type
FBXL17	TF binding region
FBXL17	CpG island
ENSG00000112874	Chromatin interaction
ENSG00000198961	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000251574	Chromatin interaction
ENSG00000197111	Chromatin interaction
ENSG00000145743	Chromatin interaction
ENSG00000201801	Chromatin interaction
ENSG00000168906	Chromatin interaction
ENSG00000197043	Chromatin interaction
ENSG00000200463	Chromatin interaction
ENSG00000258017	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	chr5:107715000-107718800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr5:107715000-107719000	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr5:107715000-107719000	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr5:107715200-107718200	Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr5:107715200-107718400	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr5:107715200-107718600	Active TSS	NHLF	lung
11	chr5:107715400-107718400	Active TSS	Fetal Stomach	stomach
12	chr5:107715400-107718600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr5:107715400-107718600	Active TSS	Aorta	Aorta
14	chr5:107715400-107719000	Active TSS	Psoas Muscle	Psoas
15	chr5:107715400-107719200	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr5:107715600-107718200	Active TSS	K562	blood
17	chr5:107715600-107718400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr5:107715600-107718400	Active TSS	Brain Germinal Matrix	brain
19	chr5:107715600-107718400	Active TSS	HSMMtube	muscle
20	chr5:107715600-107718600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr5:107715600-107718600	Active TSS	Right Ventricle	heart
22	chr5:107715600-107718600	Active TSS	Stomach Smooth Muscle	stomach
23	chr5:107715600-107718600	Active TSS	Thymus	Thymus
24	chr5:107715600-107718800	Active TSS	Pancreas	Pancrea
25	chr5:107715600-107719000	Active TSS	Colonic Mucosa	Colon
26	chr5:107715600-107719000	Active TSS	Fetal Intestine Large	intestine
27	chr5:107715600-107719000	Active TSS	Fetal Intestine Small	intestine
28	chr5:107715600-107719000	Active TSS	Fetal Muscle Trunk	muscle
29	chr5:107715800-107718200	Active TSS	Muscle Satellite Cultured Cells	--
30	chr5:107715800-107718400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr5:107715800-107718400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr5:107715800-107718400	Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr5:107715800-107718400	Active TSS	Brain Angular Gyrus	brain
34	chr5:107715800-107718400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
35	chr5:107715800-107718400	Active TSS	Placenta Amnion	Placenta Amnion
36	chr5:107715800-107718600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr5:107715800-107718600	Active TSS	iPS-15b Cell Line	embryonic stem cell
38	chr5:107715800-107718600	Active TSS	Left Ventricle	heart
39	chr5:107715800-107718600	Active TSS	Rectal Mucosa Donor 29	rectum
40	chr5:107715800-107718600	Active TSS	NHDF-Ad	bronchial
41	chr5:107715800-107718800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
42	chr5:107715800-107718800	Active TSS	H9 Cell Line	embryonic stem cell
43	chr5:107715800-107718800	Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr5:107715800-107718800	Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr5:107715800-107718800	Active TSS	HSMM	muscle
46	chr5:107716000-107718200	Active TSS	Hela-S3	cervix
47	chr5:107716000-107718200	Active TSS	HMEC	breast
48	chr5:107716000-107718400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr5:107716000-107718400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr5:107716000-107718400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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