Variant report

Variant	rs587637120
Chromosome Location	chr1:120190452-120190453
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	HEY1	chr1:120190087-120191300	K562	blood:	n/a	chr1:120190738-120190753
2	CTCF	chr1:120190284-120190458	GM19238	blood:	n/a	n/a
3	CTCF	chr1:120189728-120191607	SK-N-SH	brain:	n/a	chr1:120191378-120191391 chr1:120190990-120191003
4	POLR2A	chr1:120188313-120191533	HUVEC	blood vessel:	n/a	n/a
5	CTCF	chr1:120190320-120190470	K562	blood:	n/a	n/a
6	REST	chr1:120189243-120191573	H1-neurons	neurons:	n/a	chr1:120191069-120191076 chr1:120190748-120190761 chr1:120191103-120191116 chr1:120191166-120191179
7	POLR2A	chr1:120190427-120191407	ProgFib	skin:	n/a	n/a
8	JUN	chr1:120190171-120190487	H1-hESC	embryonic stem cell:	n/a	n/a
9	SIN3AK20	chr1:120190218-120191258	PANC-1	pancreas:	n/a	n/a
10	UBTF	chr1:120190294-120191415	K562	blood:	n/a	n/a
11	SIN3AK20	chr1:120189708-120191464	SK-N-SH	brain:	n/a	n/a
12	SMARCC1	chr1:120189801-120191493	Hela-S3	cervix:	n/a	chr1:120190959-120190968
13	POLR2A	chr1:120189786-120191539	HepG2	liver:	n/a	n/a
14	TCF7L2	chr1:120190349-120191274	HCT-116	colon:	n/a	n/a
15	CTCF	chr1:120190325-120190484	GM19240	blood:	n/a	n/a
16	MXI1	chr1:120189770-120191284	HepG2	liver:	n/a	n/a
17	REST	chr1:120190348-120191289	PFSK-1	brain:	n/a	chr1:120191069-120191076 chr1:120190748-120190761 chr1:120191103-120191116 chr1:120191166-120191179
18	CTCF	chr1:120190320-120190470	AG10803	skin:	n/a	n/a
19	RAD21	chr1:120189732-120191779	SK-N-SH	brain:	n/a	chr1:120191195-120191209 chr1:120190991-120191004
20	MYC	chr1:120188204-120191540	K562	blood:	n/a	chr1:120190213-120190223 chr1:120189879-120189895 chr1:120191103-120191112 chr1:120189705-120189715
21	GABPA	chr1:120190313-120191267	K562	blood:	n/a	n/a
22	ELF1	chr1:120190107-120191311	GM12878	blood:	n/a	chr1:120190776-120190788 chr1:120190778-120190787
23	MXI1	chr1:120190368-120191301	Hela-S3	cervix:	n/a	n/a
24	RFX5	chr1:120190248-120191583	Hela-S3	cervix:	n/a	chr1:120190963-120190978
25	CTCF	chr1:120190320-120190470	AG04449	skin:	n/a	n/a
26	EP300	chr1:120190294-120191125	GM12878	blood:	n/a	chr1:120190777-120190786 chr1:120191087-120191096 chr1:120190780-120190789 chr1:120190704-120190720
27	POLR2A	chr1:120190154-120191131	H1-hESC	embryonic stem cell:	n/a	n/a
28	RAD21	chr1:120190200-120190530	SK-N-SH_RA	brain:	n/a	n/a
29	CTCF	chr1:120190160-120190541	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr1:120190360-120190510	RPTEC	kidney:	n/a	n/a
31	CTCF	chr1:120190269-120190452	A549	lung:	n/a	n/a
32	CTCF	chr1:120190254-120190496	SK-N-SH_RA	brain:	n/a	n/a
33	MYC	chr1:120189326-120191559	K562	blood:	n/a	chr1:120190213-120190223 chr1:120189879-120189895 chr1:120191103-120191112 chr1:120189705-120189715
34	MYC	chr1:120190307-120190507	H1-hESC	embryonic stem cell:	n/a	n/a
35	MAX	chr1:120189866-120191364	NB4	blood:	n/a	chr1:120190213-120190223 chr1:120189879-120189895 chr1:120191103-120191112
36	POLR2A	chr1:120190158-120191291	K562	blood:	n/a	n/a
37	EBF1	chr1:120190396-120191072	GM12878	blood:	n/a	chr1:120190532-120190541 chr1:120190531-120190542
38	CTBP2	chr1:120189858-120191477	H1-hESC	embryonic stem cell:	n/a	n/a
39	ZNF384	chr1:120190358-120191189	K562	blood:	n/a	n/a
40	CHD1	chr1:120189897-120190657	H1-hESC	embryonic stem cell:	n/a	chr1:120190446-120190456
41	POLR2A	chr1:120189333-120191398	H1-neurons	neurons:	n/a	n/a
42	CTCF	chr1:120190360-120190510	HCT-116	colon:	n/a	n/a
43	RCOR1	chr1:120190075-120191306	HepG2	liver:	n/a	n/a
44	MYC	chr1:120190245-120191429	NB4	blood:	n/a	chr1:120191103-120191112
45	POLR2A	chr1:120190106-120191149	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr1:120190181-120190504	K562	blood:	n/a	n/a
47	POLR2A	chr1:120189343-120191499	HUVEC	blood vessel:	n/a	n/a
48	ZMIZ1	chr1:120189809-120191816	K562	blood:	n/a	n/a
49	MAX	chr1:120190142-120191252	H1-hESC	embryonic stem cell:	n/a	chr1:120190213-120190223 chr1:120191103-120191112
50	CTCF	chr1:120190177-120191430	IMR90	lung:	n/a	chr1:120191378-120191391 chr1:120190990-120191003

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:120190451-120190501	HEK293	kidney:	embryo
2	chr1:120190451-120190501	HCF	heart:	n/a
3	chr1:120190451-120190501	SK-N-SH_RA	brain:	n/a
4	chr1:120190451-120190501	SKMC	muscle:	n/a
5	chr1:120190451-120190501	HUVEC	blood vessel:	n/a
6	chr1:120190451-120190501	PrEC	prostate:	n/a
7	chr1:120190451-120190501	HNPCEpiC	eye:	n/a
8	chr1:120190451-120190501	AG04450	lung:	fetal
9	chr1:120190451-120190501	MCF-7	breast:	n/a
10	chr1:120190451-120190501	Hepatocyte	liver:	n/a
11	chr1:120190451-120190501	HL-60	blood:	n/a
12	chr1:120190451-120190501	HMEC	breast:	n/a
13	chr1:120190451-120190501	T-47D	breast:	n/a
14	chr1:120190451-120190501	SAEC	small airway:	n/a
15	chr1:120190451-120190501	GM06990	blood:	n/a
16	chr1:120190451-120190501	RPTEC	kidney:	n/a
17	chr1:120190451-120190501	HRCEpiC	kidney:	n/a
18	chr1:120190451-120190501	PFSK-1	brain:	n/a
19	chr1:120190451-120190501	AoSMC	blood vessel:	n/a
20	chr1:120190451-120190501	NHDF-neo	bronchial:	n/a
21	chr1:120190451-120190501	HIPEpiC	eye:	n/a
22	chr1:120190451-120190501	AG09319	gingival:	n/a
23	chr1:120190451-120190501	U87	brain:	n/a
24	chr1:120190451-120190501	NT2-D1	testis:	n/a
25	chr1:120190451-120190501	CMK	blood:	n/a
26	chr1:120190451-120190501	BJ	skin:	n/a
27	chr1:120190451-120190501	ovcar-3	ovarian:	n/a
28	chr1:120190451-120190501	GM12878	blood:	n/a
29	chr1:120190451-120190501	GM12891	blood:	n/a
30	chr1:120190451-120190501	SK-N-SH	brain:	n/a
31	chr1:120190451-120190501	HEEpiC	esophagus:	n/a
32	chr1:120190451-120190501	PANC-1	pancreas:	n/a
33	chr1:120190451-120190501	HCPEpiC	choroid plexus:	n/a
34	chr1:120190451-120190501	GM19239	blood:	n/a
35	chr1:120190451-120190501	LNCaP	prostate:	n/a
36	chr1:120190451-120190501	HRE	kidney:	n/a
37	chr1:120190451-120190501	A549	lung:	n/a
38	chr1:120190451-120190501	AG09309	skin:	n/a
39	chr1:120190451-120190501	NB4	blood:	n/a
40	chr1:120190451-120190501	Caco-2	colon:	n/a
41	chr1:120190451-120190501	HCM	heart:	n/a
42	chr1:120190451-120190501	HRPEpiC	eye:	n/a
43	chr1:120190451-120190501	BE2_C	brain:	n/a
44	chr1:120190451-120190501	HCT-116	colon:	n/a
45	chr1:120190451-120190501	ProgFib	skin:	n/a
46	chr1:120190451-120190501	AG04449	skin:	fetal
47	chr1:120190451-120190501	IMR90	lung:	fetal
48	chr1:120190451-120190501	SK-N-MC	brain:	n/a
49	chr1:120190451-120190501	HAEpiC	amniotic membrane:	n/a
50	chr1:120190451-120190501	MCF10A-Er-Src	breast:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:120188760..120191651-chr1:120254416..120257641,3	K562	blood:
2	chr1:120188687..120197065-chr1:120197482..120205927,19	MCF-7	breast:
3	chr1:120188673..120191126-chr1:120281749..120284526,2	K562	blood:
4	chr1:120188763..120191080-chr1:120201790..120203315,2	K562	blood:
5	chr1:120187998..120191080-chr1:120201790..120203947,3	K562	blood:

Variant related genes	Relation type
ZNF697	TF binding region
ZNF697	CpG island
ENSG00000092621	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932014	chr1:119476480-120471049	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS 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	86 gene(s)	inside rSNPs	diseases
2	nsv1000391	chr1:119837978-120287056	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv535077	chr1:119837978-120287056	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv1000939	chr1:119983342-120471049	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised 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	38 gene(s)	inside rSNPs	diseases
5	esv2757749	chr1:120016696-120214577	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	esv2758964	chr1:120016696-120214577	Enhancers ZNF genes & repeats Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	esv3324852	chr1:120189654-120192402	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120188600-120191600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr1:120188600-120191600	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr1:120188800-120191400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:120188800-120191600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:120188800-120191600	Active TSS	HSMMtube	muscle
6	chr1:120189200-120191600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:120189200-120191800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr1:120189200-120191800	Active TSS	Rectal Smooth Muscle	rectum
9	chr1:120189400-120191400	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr1:120189400-120191400	Active TSS	NH-A	brain
11	chr1:120189400-120191600	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr1:120189400-120191600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:120189400-120191600	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr1:120189400-120191800	Active TSS	Right Atrium	heart
15	chr1:120189400-120192000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:120189600-120191000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:120189600-120191400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:120189600-120191400	Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr1:120189600-120191400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:120189600-120191400	Active TSS	Fetal Heart	heart
21	chr1:120189600-120191400	Active TSS	Fetal Lung	lung
22	chr1:120189600-120191400	Active TSS	NHEK	skin
23	chr1:120189600-120191400	Active TSS	Osteobl	bone
24	chr1:120189600-120191600	Active TSS	H1 Cell Line	embryonic stem cell
25	chr1:120189600-120191600	Active TSS	H9 Cell Line	embryonic stem cell
26	chr1:120189600-120191600	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr1:120189600-120191600	Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr1:120189600-120191600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:120189600-120191600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr1:120189600-120191600	Active TSS	Fetal Intestine Small	intestine
31	chr1:120189600-120191600	Active TSS	Fetal Kidney	kidney
32	chr1:120189600-120191600	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr1:120189600-120191600	Active TSS	Fetal Stomach	stomach
34	chr1:120189600-120191600	Active TSS	Right Ventricle	heart
35	chr1:120189600-120191600	Bivalent/Poised TSS	HepG2	liver
36	chr1:120189600-120192000	Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr1:120189600-120192000	Active TSS	NHLF	lung
38	chr1:120189800-120190600	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
39	chr1:120189800-120190600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
40	chr1:120189800-120190600	Flanking Active TSS	Adipose Nuclei	Adipose
41	chr1:120189800-120190600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
42	chr1:120189800-120190600	Flanking Active TSS	Stomach Smooth Muscle	stomach
43	chr1:120189800-120190600	Flanking Active TSS	Spleen	Spleen
44	chr1:120189800-120190800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr1:120189800-120191400	Active TSS	Brain Substantia Nigra	brain
46	chr1:120189800-120191400	Bivalent/Poised TSS	Fetal Thymus	thymus
47	chr1:120189800-120191600	Active TSS	Colon Smooth Muscle	Colon
48	chr1:120189800-120191600	Active TSS	A549	lung
49	chr1:120189800-120191800	Active TSS	Aorta	Aorta
50	chr1:120190000-120190600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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