Variant report

Variant	rs371731987
Chromosome Location	chr5:179718578-179718579
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	MYC	chr5:179718545-179718709	K562	blood:	n/a	n/a
2	MXI1	chr5:179718523-179718697	GM12878	blood:	n/a	n/a
3	CTCF	chr5:179718560-179718710	SK-N-SH_RA	brain:	n/a	chr5:179718672-179718688 chr5:179718674-179718687
4	CTCF	chr5:179718571-179718765	MCF-7	breast:	n/a	chr5:179718672-179718688 chr5:179718674-179718687
5	CTCF	chr5:179718560-179718710	HFF-Myc	foreskin:	n/a	chr5:179718672-179718688 chr5:179718674-179718687
6	ZBTB7A	chr5:179718075-179719777	ECC-1	luminal epithelium:	n/a	chr5:179718679-179718688
7	CTCF	chr5:179718560-179718710	HCFaa	heart:	n/a	chr5:179718672-179718688 chr5:179718674-179718687
8	MAZ	chr5:179717708-179721036	IMR90	lung:	n/a	chr5:179719295-179719302 chr5:179718302-179718312
9	CTCF	chr5:179718503-179718809	K562	blood:	n/a	chr5:179718672-179718688 chr5:179718785-179718798 chr5:179718674-179718687
10	CTCF	chr5:179718572-179718762	GM10266	blood:	n/a	chr5:179718672-179718688 chr5:179718674-179718687
11	ZBTB7A	chr5:179718292-179719881	ECC-1	luminal epithelium:	n/a	chr5:179718679-179718688
12	CTCF	chr5:179718520-179718670	HUVEC	blood vessel:	n/a	n/a
13	CTCF	chr5:179718560-179718710	HCPEpiC	choroid plexus:	n/a	chr5:179718672-179718688 chr5:179718674-179718687
14	SIN3AK20	chr5:179718440-179718735	H1-hESC	embryonic stem cell:	n/a	n/a
15	MAX	chr5:179718566-179718721	K562	blood:	n/a	n/a
16	ELF1	chr5:179718226-179719886	GM12878	blood:	n/a	chr5:179718858-179718867
17	CTCF	chr5:179718518-179718710	SK-N-SH_RA	brain:	n/a	chr5:179718672-179718688 chr5:179718674-179718687
18	SIN3A	chr5:179718546-179718707	GM12878	blood:	n/a	n/a
19	CTCF	chr5:179718569-179718752	GM12891	blood:	n/a	chr5:179718672-179718688 chr5:179718674-179718687
20	CTCF	chr5:179718541-179718768	GM19238	blood:	n/a	chr5:179718672-179718688 chr5:179718674-179718687
21	CTCF	chr5:179718571-179718739	GM13976	blood:	n/a	chr5:179718672-179718688 chr5:179718674-179718687
22	MXI1	chr5:179718153-179719950	IMR90	lung:	n/a	n/a
23	UBTF	chr5:179718473-179718881	K562	blood:	n/a	n/a
24	MXI1	chr5:179718507-179718666	HepG2	liver:	n/a	n/a
25	MAX	chr5:179718499-179718788	Hela-S3	cervix:	n/a	n/a
26	MAZ	chr5:179718502-179719764	GM12878	blood:	n/a	chr5:179719295-179719302
27	MAX	chr5:179718322-179719987	HepG2	liver:	n/a	chr5:179719295-179719302
28	CTCF	chr5:179718560-179718710	NB4	blood:	n/a	chr5:179718672-179718688 chr5:179718674-179718687
29	ZBTB7A	chr5:179718478-179718816	HepG2	liver:	n/a	chr5:179718679-179718688
30	ZNF143	chr5:179718472-179719533	GM12878	blood:	n/a	chr5:179718846-179718864 chr5:179718551-179718561 chr5:179718782-179718800
31	SIN3AK20	chr5:179718458-179718948	K562	blood:	n/a	n/a
32	GABPA	chr5:179718444-179718742	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr5:179718540-179718690	Caco-2	colon:	n/a	chr5:179718672-179718688 chr5:179718674-179718687
34	CTCF	chr5:179718567-179718727	SK-N-SH_RA	brain:	n/a	chr5:179718672-179718688 chr5:179718674-179718687
35	CTCF	chr5:179718560-179718710	HPAF	blood vessel:	n/a	chr5:179718672-179718688 chr5:179718674-179718687
36	CTCF	chr5:179718560-179718710	BJ	skin:	n/a	chr5:179718672-179718688 chr5:179718674-179718687
37	CTCF	chr5:179718567-179718718	GM20000	blood:	n/a	chr5:179718672-179718688 chr5:179718674-179718687
38	CTCF	chr5:179718540-179718690	WERI-Rb-1	eye:	n/a	chr5:179718672-179718688 chr5:179718674-179718687
39	YY1	chr5:179718359-179718778	H1-hESC	embryonic stem cell:	n/a	chr5:179718674-179718688 chr5:179718680-179718694
40	POLR2A	chr5:179718312-179718676	ECC-1	luminal epithelium:	n/a	n/a
41	CTCF	chr5:179718560-179718710	HMEC	breast:	n/a	chr5:179718672-179718688 chr5:179718674-179718687
42	CTCF	chr5:179718560-179718710	HA-sp	spinal cord:	n/a	chr5:179718672-179718688 chr5:179718674-179718687
43	SIN3AK20	chr5:179718403-179718747	SK-N-SH	brain:	n/a	n/a
44	POLR2A	chr5:179718542-179719871	K562	blood:	n/a	n/a
45	MXI1	chr5:179718514-179718654	Hela-S3	cervix:	n/a	n/a
46	CTCF	chr5:179718571-179718770	GM19240	blood:	n/a	chr5:179718672-179718688 chr5:179718674-179718687
47	SIN3A	chr5:179718460-179718773	H1-hESC	embryonic stem cell:	n/a	n/a
48	CCNT2	chr5:179718487-179718688	K562	blood:	n/a	n/a
49	YY1	chr5:179718367-179718744	GM12878	blood:	n/a	chr5:179718674-179718688 chr5:179718680-179718694
50	CTCF	chr5:179718560-179718710	GM12870	blood:	n/a	chr5:179718672-179718688 chr5:179718674-179718687

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:179718531-179718581	AG04449	skin:	fetal
2	chr5:179718531-179718581	SK-N-MC	brain:	n/a
3	chr5:179718531-179718581	Hepatocyte	liver:	n/a
4	chr5:179718531-179718581	NT2-D1	testis:	n/a
5	chr5:179718531-179718581	Jurkat	blood:	n/a
6	chr5:179718531-179718581	Caco-2	colon:	n/a
7	chr5:179718531-179718581	HPAEpiC	pulmonary alveolar:	n/a
8	chr5:179718531-179718581	RPTEC	kidney:	n/a
9	chr5:179718531-179718581	HL-60	blood:	n/a
10	chr5:179718531-179718581	ovcar-3	ovarian:	n/a
11	chr5:179718531-179718581	AoSMC	blood vessel:	n/a
12	chr5:179718531-179718581	T-47D	breast:	n/a
13	chr5:179718531-179718581	HIPEpiC	eye:	n/a
14	chr5:179718531-179718581	ProgFib	skin:	n/a
15	chr5:179718531-179718581	BJ	skin:	n/a
16	chr5:179718531-179718581	SKMC	muscle:	n/a
17	chr5:179718531-179718581	HCF	heart:	n/a
18	chr5:179718531-179718581	HRE	kidney:	n/a
19	chr5:179718531-179718581	AG09309	skin:	n/a
20	chr5:179718531-179718581	LNCaP	prostate:	n/a
21	chr5:179718531-179718581	AG04450	lung:	fetal
22	chr5:179718531-179718581	PrEC	prostate:	n/a
23	chr5:179718531-179718581	SK-N-SH_RA	brain:	n/a
24	chr5:179718531-179718581	A549	lung:	n/a
25	chr5:179718531-179718581	HRCEpiC	kidney:	n/a
26	chr5:179718531-179718581	HEEpiC	esophagus:	n/a
27	chr5:179718531-179718581	MCF10A-Er-Src	breast:	n/a
28	chr5:179718531-179718581	HCPEpiC	choroid plexus:	n/a
29	chr5:179718531-179718581	U87	brain:	n/a
30	chr5:179718531-179718581	HCM	heart:	n/a
31	chr5:179718531-179718581	MCF-7	breast:	n/a
32	chr5:179718531-179718581	Hela-S3	cervix:	n/a
33	chr5:179718531-179718581	HNPCEpiC	eye:	n/a
34	chr5:179718531-179718581	HEK293	kidney:	embryo
35	chr5:179718531-179718581	SAEC	small airway:	n/a
36	chr5:179718531-179718581	NHBE	bronchial:	n/a
37	chr5:179718531-179718581	HUVEC	blood vessel:	n/a
38	chr5:179718531-179718581	GM12891	blood:	n/a
39	chr5:179718531-179718581	ECC-1	luminal epithelium:	n/a
40	chr5:179718531-179718581	SK-N-SH	brain:	n/a
41	chr5:179718531-179718581	NHDF-neo	bronchial:	n/a
42	chr5:179718531-179718581	AG09319	gingival:	n/a
43	chr5:179718531-179718581	GM19239	blood:	n/a
44	chr5:179718531-179718581	GM12878	blood:	n/a
45	chr5:179718531-179718581	NH-A	brain:	n/a
46	chr5:179718531-179718581	H1-hESC	embryonic stem cell:	embryo
47	chr5:179718531-179718581	GM06990	blood:	n/a
48	chr5:179718531-179718581	HAEpiC	amniotic membrane:	n/a
49	chr5:179718531-179718581	AG10803	skin:	n/a
50	chr5:179718531-179718581	HCT-116	colon:	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:179717698..179720150-chr5:179758033..179760822,3	MCF-7	breast:
2	chr5:179683447..179685223-chr5:179718038..179720496,2	MCF-7	breast:
3	chr5:179716385..179718922-chr5:179921407..179923351,3	MCF-7	breast:
4	chr5:179718120..179720283-chr5:180227933..180230146,2	MCF-7	breast:
5	chr5:179718232..179719781-chr5:179756949..179759059,2	MCF-7	breast:
6	chr16:9123624..9124124-chr5:179718416..179718917,2	Hela-S3	cervix:
7	chr20:46275666..46278048-chr5:179716451..179718791,2	MCF-7	breast:
8	chr5:179633482..179636303-chr5:179718045..179719781,2	K562	blood:
9	chr19:1747829..1748422-chr5:179718198..179718965,2	Hela-S3	cervix:
10	chr5:179718262..179720717-chr5:180237170..180239607,2	MCF-7	breast:
11	chr5:179695378..179696983-chr5:179716689..179718636,2	K562	blood:
12	chr5:179716122..179718666-chr5:179757910..179760029,2	K562	blood:
13	chr5:179712494..179714081-chr5:179717178..179718692,2	K562	blood:

Variant related genes	Relation type
ENSG00000248367	TF binding region
ENSG00000248367	CpG island
ENSG00000113300	Chromatin interaction
ENSG00000146090	Chromatin interaction
ENSG00000253908	Chromatin interaction
ENSG00000131459	Chromatin interaction
ENSG00000267073	Chromatin interaction
ENSG00000131446	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948909	chr5:179249099-179772640	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
2	nsv1033706	chr5:179402769-179806356	Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
3	esv2758032	chr5:179534477-179729944	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	esv2759398	chr5:179534477-179729944	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv1023914	chr5:179649883-180040672	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv537983	chr5:179649883-180040672	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv1030697	chr5:179710469-180686563	ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	184 gene(s)	inside rSNPs	diseases
8	nsv883290	chr5:179712060-179818868	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	esv3398259	chr5:179717146-179721444	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv830563	chr5:179717693-179898609	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
11	nsv10787	chr5:179717724-179732388	Flanking Active TSS Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
12	esv3437532	chr5:179717871-179720719	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	esv3443745	chr5:179717971-179720219	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179716200-179718600	Enhancers	Stomach Mucosa	stomach
2	chr5:179717200-179718600	Enhancers	Fetal Heart	heart
3	chr5:179717400-179718600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
4	chr5:179717600-179718600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr5:179717600-179718600	Flanking Active TSS	Fetal Brain Male	brain
6	chr5:179717600-179718600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
7	chr5:179717600-179719600	Active TSS	Colonic Mucosa	Colon
8	chr5:179717600-179720000	Active TSS	Brain Germinal Matrix	brain
9	chr5:179717600-179720200	Active TSS	NH-A	brain
10	chr5:179717600-179720200	Active TSS	NHLF	lung
11	chr5:179717600-179720600	Active TSS	Aorta	Aorta
12	chr5:179717800-179718600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
13	chr5:179717800-179718600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr5:179717800-179718600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
15	chr5:179717800-179718600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
16	chr5:179717800-179718600	Flanking Active TSS	Fetal Thymus	thymus
17	chr5:179717800-179718600	Flanking Active TSS	Thymus	Thymus
18	chr5:179717800-179720000	Active TSS	Right Ventricle	heart
19	chr5:179717800-179720200	Active TSS	H1 Cell Line	embryonic stem cell
20	chr5:179717800-179720400	Active TSS	H9 Cell Line	embryonic stem cell
21	chr5:179717800-179720400	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr5:179717800-179720600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr5:179717800-179720600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr5:179717800-179720600	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr5:179718000-179718600	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr5:179718000-179718600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
27	chr5:179718000-179720000	Active TSS	Gastric	stomach
28	chr5:179718000-179720200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:179718000-179720200	Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr5:179718000-179720200	Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr5:179718000-179720200	Active TSS	Fetal Intestine Small	intestine
32	chr5:179718000-179720200	Active TSS	A549	lung
33	chr5:179718000-179720200	Active TSS	NHDF-Ad	bronchial
34	chr5:179718000-179720400	Active TSS	iPS-15b Cell Line	embryonic stem cell
35	chr5:179718000-179720600	Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr5:179718200-179718600	Flanking Active TSS	Primary B cells from peripheral blood	blood
37	chr5:179718200-179719000	Active TSS	Right Atrium	heart
38	chr5:179718200-179719200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr5:179718200-179719400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr5:179718200-179719600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr5:179718200-179719600	Active TSS	Primary monocytes fromperipheralblood	blood
42	chr5:179718200-179719600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr5:179718200-179719600	Active TSS	Liver	Liver
44	chr5:179718200-179719600	Active TSS	Fetal Muscle Trunk	muscle
45	chr5:179718200-179719600	Active TSS	Skeletal Muscle Female	skeletal muscle
46	chr5:179718200-179719600	Active TSS	Stomach Smooth Muscle	stomach
47	chr5:179718200-179719600	Active TSS	Osteobl	bone
48	chr5:179718200-179719800	Active TSS	Small Intestine	intestine
49	chr5:179718200-179719800	Active TSS	K562	blood
50	chr5:179718200-179720000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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