Variant report

Variant	rs532363420
Chromosome Location	chr1:180881491-180881492
allele	C/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	MXI1	chr1:180881372-180881538	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr1:180881403-180882651	ProgFib	skin:	n/a	n/a
3	MAX	chr1:180881269-180881833	H1-hESC	embryonic stem cell:	n/a	chr1:180881689-180881699
4	TAF1	chr1:180881177-180881892	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr1:180881327-180882130	ECC-1	luminal epithelium:	n/a	chr1:180881689-180881699
6	RAD21	chr1:180881090-180881502	H1-hESC	embryonic stem cell:	n/a	n/a
7	MAX	chr1:180881353-180881805	GM12878	blood:	n/a	chr1:180881689-180881699
8	MAX	chr1:180881239-180881860	H1-hESC	embryonic stem cell:	n/a	chr1:180881689-180881699
9	GTF2F1	chr1:180881467-180881568	H1-hESC	embryonic stem cell:	n/a	n/a
10	RELA	chr1:180880720-180881647	GM18951	blood:	n/a	chr1:180881341-180881350 chr1:180881341-180881350
11	E2F6	chr1:180880896-180881958	H1-hESC	embryonic stem cell:	n/a	chr1:180881432-180881442 chr1:180881328-180881338 chr1:180881768-180881775 chr1:180881768-180881775 chr1:180881434-180881443 chr1:180881768-180881775
12	YY1	chr1:180881220-180881638	H1-hESC	embryonic stem cell:	n/a	chr1:180881434-180881443 chr1:180881327-180881341 chr1:180881431-180881440
13	POLR2A	chr1:180880961-180882409	GM15510	blood:	n/a	n/a
14	TCF12	chr1:180881471-180882195	ECC-1	luminal epithelium:	n/a	n/a
15	POLR2A	chr1:180881299-180881838	H1-neurons	neurons:	n/a	n/a
16	BACH1	chr1:180881122-180882154	H1-hESC	embryonic stem cell:	n/a	n/a
17	E2F6	chr1:180881191-180881924	H1-hESC	embryonic stem cell:	n/a	chr1:180881432-180881442 chr1:180881328-180881338 chr1:180881768-180881775 chr1:180881768-180881775 chr1:180881434-180881443 chr1:180881768-180881775
18	POLR2A	chr1:180881276-180882659	Gliobla	brain:	n/a	n/a
19	POLR2A	chr1:180880900-180882751	GM18526	blood:	n/a	n/a
20	POLR2A	chr1:180881386-180881881	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr1:180881488-180882316	ECC-1	luminal epithelium:	n/a	n/a
22	MXI1	chr1:180881476-180881687	GM12878	blood:	n/a	n/a
23	POLR2A	chr1:180880908-180882687	GM18951	blood:	n/a	n/a
24	EBF1	chr1:180881405-180881505	GM12878	blood:	n/a	n/a
25	SIN3A	chr1:180880808-180882632	H1-hESC	embryonic stem cell:	n/a	chr1:180881456-180881467 chr1:180882205-180882218 chr1:180882202-180882211 chr1:180881883-180881896 chr1:180882153-180882166
26	ZBTB7A	chr1:180881341-180882336	ECC-1	luminal epithelium:	n/a	chr1:180881356-180881367
27	CTBP2	chr1:180880845-180882924	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr1:180881041-180882440	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr1:180880753-180882509	GM19193	blood:	n/a	n/a
30	MAX	chr1:180881264-180881943	ECC-1	luminal epithelium:	n/a	chr1:180881689-180881699
31	POLR2A	chr1:180880810-180882658	GM19099	blood:	n/a	n/a
32	TAF1	chr1:180881275-180881820	H1-hESC	embryonic stem cell:	n/a	n/a
33	MAZ	chr1:180880823-180883145	IMR90	lung:	n/a	chr1:180882510-180882520 chr1:180881689-180881699
34	YY1	chr1:180881466-180881723	ECC-1	luminal epithelium:	n/a	chr1:180881670-180881684
35	POLR2A	chr1:180880603-180882704	H1-hESC	embryonic stem cell:	n/a	n/a
36	PAX5	chr1:180881385-180881642	GM12878	blood:	n/a	n/a
37	POLR2A	chr1:180881425-180881823	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr1:180880850-180882738	H1-hESC	embryonic stem cell:	n/a	n/a
39	TBP	chr1:180880930-180881898	H1-hESC	embryonic stem cell:	n/a	n/a
40	JUND	chr1:180881402-180881565	H1-hESC	embryonic stem cell:	n/a	n/a
41	RAD21	chr1:180880906-180881685	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:180881480-180881530	AoSMC	blood vessel:	n/a
2	chr1:180881480-180881530	SK-N-SH_RA	brain:	n/a
3	chr1:180881480-180881530	AG10803	skin:	n/a
4	chr1:180881480-180881530	HRE	kidney:	n/a
5	chr1:180881480-180881530	H1-hESC	embryonic stem cell:	embryo
6	chr1:180881480-180881530	Caco-2	colon:	n/a
7	chr1:180881480-180881530	ProgFib	skin:	n/a
8	chr1:180881480-180881530	AG09309	skin:	n/a
9	chr1:180881480-180881530	AG04449	skin:	fetal
10	chr1:180881480-180881530	NHDF-neo	bronchial:	n/a
11	chr1:180881480-180881530	HRCEpiC	kidney:	n/a
12	chr1:180881480-180881530	RPTEC	kidney:	n/a
13	chr1:180881480-180881530	GM12878	blood:	n/a
14	chr1:180881480-180881530	IMR90	lung:	fetal
15	chr1:180881480-180881530	HEEpiC	esophagus:	n/a
16	chr1:180881480-180881530	PrEC	prostate:	n/a
17	chr1:180881480-180881530	HCM	heart:	n/a
18	chr1:180881480-180881530	GM06990	blood:	n/a
19	chr1:180881480-180881530	BE2_C	brain:	n/a
20	chr1:180881480-180881530	MCF-7	breast:	n/a
21	chr1:180881480-180881530	HNPCEpiC	eye:	n/a
22	chr1:180881480-180881530	HRPEpiC	eye:	n/a
23	chr1:180881480-180881530	K562	blood:	n/a
24	chr1:180881480-180881530	HepG2	liver:	n/a
25	chr1:180881480-180881530	BJ	skin:	n/a
26	chr1:180881480-180881530	LNCaP	prostate:	n/a
27	chr1:180881480-180881530	SK-N-MC	brain:	n/a
28	chr1:180881480-180881530	NT2-D1	testis:	n/a
29	chr1:180881480-180881530	HIPEpiC	eye:	n/a
30	chr1:180881480-180881530	HAEpiC	amniotic membrane:	n/a
31	chr1:180881480-180881530	SKMC	muscle:	n/a
32	chr1:180881480-180881530	PFSK-1	brain:	n/a
33	chr1:180881480-180881530	HPAEpiC	pulmonary alveolar:	n/a
34	chr1:180881480-180881530	HCT-116	colon:	n/a
35	chr1:180881480-180881530	MCF10A-Er-Src	breast:	n/a
36	chr1:180881480-180881530	T-47D	breast:	n/a
37	chr1:180881480-180881530	AG09319	gingival:	n/a
38	chr1:180881480-180881530	HUVEC	blood vessel:	n/a
39	chr1:180881480-180881530	HMEC	breast:	n/a
40	chr1:180881480-180881530	HL-60	blood:	n/a
41	chr1:180881480-180881530	NB4	blood:	n/a
42	chr1:180881480-180881530	AG04450	lung:	fetal
43	chr1:180881480-180881530	NHBE	bronchial:	n/a
44	chr1:180881480-180881530	GM12891	blood:	n/a
45	chr1:180881480-180881530	ovcar-3	ovarian:	n/a
46	chr1:180881480-180881530	U87	brain:	n/a
47	chr1:180881480-180881530	CMK	blood:	n/a
48	chr1:180881480-180881530	Hela-S3	cervix:	n/a
49	chr1:180881480-180881530	SAEC	small airway:	n/a
50	chr1:180881480-180881530	Jurkat	blood:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:180874718..180876670-chr1:180880822..180883224,2	K562	blood:
2	chr1:180879805..180882226-chr1:180894957..180896873,2	MCF-7	breast:

Variant related genes	Relation type
KIAA1614	TF binding region
KIAA1614	CpG island
ENSG00000225857	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014404	chr1:180770155-181090200	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking 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 target site	97 gene(s)	inside rSNPs	diseases
2	esv3436549	chr1:180880954-180883502	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv872579	chr1:180881148-180931508	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180879200-180881800	Weak transcription	A549	lung
2	chr1:180880800-180881600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:180880800-180881600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
4	chr1:180880800-180881600	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
5	chr1:180880800-180881600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
6	chr1:180880800-180881600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
7	chr1:180880800-180881800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:180880800-180881800	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr1:180880800-180882200	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
10	chr1:180880800-180882400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
11	chr1:180880800-180882400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr1:180880800-180882800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:180880800-180882800	Active TSS	Brain Angular Gyrus	brain
14	chr1:180880800-180882800	Active TSS	Fetal Brain Female	brain
15	chr1:180880800-180883000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
16	chr1:180880800-180883000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
17	chr1:180880800-180883200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
18	chr1:180880800-180883400	Active TSS	HSMM	muscle
19	chr1:180881000-180881600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr1:180881000-180881600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
21	chr1:180881000-180881600	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
22	chr1:180881000-180881600	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
23	chr1:180881000-180881600	Flanking Active TSS	Placenta	Placenta
24	chr1:180881000-180881600	Bivalent/Poised TSS	Psoas Muscle	Psoas
25	chr1:180881000-180881600	Flanking Active TSS	HUVEC	blood vessel
26	chr1:180881000-180881800	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr1:180881000-180881800	Flanking Active TSS	Esophagus	oesophagus
28	chr1:180881000-180882200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
29	chr1:180881000-180882200	Flanking Active TSS	Liver	Liver
30	chr1:180881000-180882400	Flanking Active TSS	Pancreas	Pancrea
31	chr1:180881000-180882400	Flanking Bivalent TSS/Enh	Thymus	Thymus
32	chr1:180881000-180882600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr1:180881000-180882600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr1:180881000-180882800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr1:180881000-180882800	Active TSS	H9 Cell Line	embryonic stem cell
36	chr1:180881000-180882800	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:180881000-180882800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
38	chr1:180881000-180882800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr1:180881000-180882800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr1:180881000-180882800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr1:180881000-180882800	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr1:180881000-180882800	Active TSS	Fetal Lung	lung
43	chr1:180881000-180882800	Active TSS	Rectal Smooth Muscle	rectum
44	chr1:180881000-180882800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
45	chr1:180881000-180883000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr1:180881000-180883000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
47	chr1:180881000-180883000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr1:180881000-180883000	Active TSS	Aorta	Aorta
49	chr1:180881000-180883000	Active TSS	Fetal Kidney	kidney
50	chr1:180881000-180883000	Active TSS	Left Ventricle	heart

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