Variant report

Variant	rs529740972
Chromosome Location	chr1:9750084-9750085
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:48)
CpG islands
(count:61)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:48 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HMGN3	chr1:9749062-9750237	K562	blood:	n/a	n/a
2	MAX	chr1:9749952-9750459	A549	lung:	n/a	n/a
3	FOXA1	chr1:9750008-9750262	HepG2	liver:	n/a	n/a
4	POLR2A	chr1:9750021-9750256	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr1:9749927-9750337	H1-hESC	embryonic stem cell:	n/a	chr1:9749944-9749954
6	SIN3A	chr1:9748978-9750817	H1-hESC	embryonic stem cell:	n/a	chr1:9750298-9750311 chr1:9750560-9750574
7	UBTF	chr1:9750066-9750353	K562	blood:	n/a	n/a
8	E2F6	chr1:9749936-9750228	K562	blood:	n/a	n/a
9	MAX	chr1:9749876-9750514	ECC-1	luminal epithelium:	n/a	chr1:9749944-9749954
10	CHD2	chr1:9750018-9750511	H1-hESC	embryonic stem cell:	n/a	n/a
11	FOXA2	chr1:9749832-9750452	A549	lung:	n/a	n/a
12	ZBTB7A	chr1:9748993-9750468	ECC-1	luminal epithelium:	n/a	chr1:9749244-9749253
13	POLR2A	chr1:9749122-9750384	H1-hESC	embryonic stem cell:	n/a	n/a
14	FOXA2	chr1:9749995-9750400	A549	lung:	n/a	n/a
15	MAX	chr1:9749990-9750357	K562	blood:	n/a	n/a
16	ZBTB7A	chr1:9749097-9750357	K562	blood:	n/a	chr1:9749244-9749253
17	E2F6	chr1:9749924-9750162	K562	blood:	n/a	n/a
18	MAX	chr1:9750035-9750249	A549	lung:	n/a	n/a
19	CHD2	chr1:9750034-9750275	K562	blood:	n/a	n/a
20	MAX	chr1:9749951-9750279	K562	blood:	n/a	n/a
21	MXI1	chr1:9749957-9751852	IMR90	lung:	n/a	n/a
22	POLR2A	chr1:9749994-9750286	H1-hESC	embryonic stem cell:	n/a	n/a
23	MAX	chr1:9749823-9750419	K562	blood:	n/a	chr1:9749944-9749954
24	MAX	chr1:9749947-9750555	A549	lung:	n/a	n/a
25	POLR2A	chr1:9749980-9750341	H1-neurons	neurons:	n/a	n/a
26	MAX	chr1:9749979-9750220	HepG2	liver:	n/a	n/a
27	BHLHE40	chr1:9749997-9750277	K562	blood:	n/a	n/a
28	E2F6	chr1:9749944-9750447	A549	lung:	n/a	n/a
29	FOXP2	chr1:9750024-9750250	PFSK-1	brain:	n/a	n/a
30	REST	chr1:9749817-9750595	H1-neurons	neurons:	n/a	chr1:9750561-9750575
31	ZBTB7A	chr1:9749823-9750380	ECC-1	luminal epithelium:	n/a	n/a
32	ZBTB7A	chr1:9749929-9750335	K562	blood:	n/a	n/a
33	MAX	chr1:9749921-9750334	H1-hESC	embryonic stem cell:	n/a	chr1:9749944-9749954
34	E2F6	chr1:9749169-9750301	K562	blood:	n/a	chr1:9749756-9749765
35	MAZ	chr1:9749031-9750486	K562	blood:	n/a	chr1:9749944-9749954
36	RCOR1	chr1:9750049-9750196	K562	blood:	n/a	n/a
37	MXI1	chr1:9749199-9750294	HepG2	liver:	n/a	chr1:9749721-9749736
38	MYC	chr1:9750015-9750438	K562	blood:	n/a	n/a
39	ELF1	chr1:9749891-9750379	GM12878	blood:	n/a	chr1:9750061-9750070
40	TBP	chr1:9750030-9750331	H1-hESC	embryonic stem cell:	n/a	n/a
41	SIN3AK20	chr1:9749945-9750210	H1-hESC	embryonic stem cell:	n/a	n/a
42	FOXA1	chr1:9750012-9750228	T-47D	breast:	n/a	n/a
43	MXI1	chr1:9749554-9750137	H1-hESC	embryonic stem cell:	n/a	chr1:9749721-9749736
44	MAZ	chr1:9746682-9751668	IMR90	lung:	n/a	chr1:9747639-9747648 chr1:9749944-9749954 chr1:9747642-9747652
45	TEAD4	chr1:9750052-9750436	K562	blood:	n/a	n/a
46	CTCF	chr1:9750040-9750190	AG04450	lung:	n/a	n/a
47	FOXA1	chr1:9749952-9750282	HepG2	liver:	n/a	n/a
48	MAX	chr1:9749886-9750413	ECC-1	luminal epithelium:	n/a	chr1:9749944-9749954

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:9750061-9750111	IMR90	lung:	fetal
2	chr1:9750061-9750111	MCF-7	breast:	n/a
3	chr1:9750061-9750111	ProgFib	skin:	n/a
4	chr1:9750061-9750111	H1-hESC	embryonic stem cell:	embryo
5	chr1:9750061-9750111	HMEC	breast:	n/a
6	chr1:9750061-9750111	HepG2	liver:	n/a
7	chr1:9750061-9750111	HIPEpiC	eye:	n/a
8	chr1:9750061-9750111	MCF10A-Er-Src	breast:	n/a
9	chr1:9750061-9750111	Caco-2	colon:	n/a
10	chr1:9750061-9750111	HUVEC	blood vessel:	n/a
11	chr1:9750061-9750111	NT2-D1	testis:	n/a
12	chr1:9750061-9750111	NHDF-neo	bronchial:	n/a
13	chr1:9750061-9750111	BJ	skin:	n/a
14	chr1:9750061-9750111	HEEpiC	esophagus:	n/a
15	chr1:9750061-9750111	HRCEpiC	kidney:	n/a
16	chr1:9750061-9750111	SAEC	small airway:	n/a
17	chr1:9750061-9750111	AG09309	skin:	n/a
18	chr1:9750061-9750111	SK-N-SH	brain:	n/a
19	chr1:9750061-9750111	LNCaP	prostate:	n/a
20	chr1:9750061-9750111	HCT-116	colon:	n/a
21	chr1:9750061-9750111	PANC-1	pancreas:	n/a
22	chr1:9750061-9750111	AG04450	lung:	fetal
23	chr1:9750061-9750111	PFSK-1	brain:	n/a
24	chr1:9750061-9750111	SK-N-SH_RA	brain:	n/a
25	chr1:9750061-9750111	HL-60	blood:	n/a
26	chr1:9750061-9750111	AG10803	skin:	n/a
27	chr1:9750061-9750111	A549	lung:	n/a
28	chr1:9750061-9750111	BE2_C	brain:	n/a
29	chr1:9750061-9750111	RPTEC	kidney:	n/a
30	chr1:9750061-9750111	NH-A	brain:	n/a
31	chr1:9750061-9750111	PrEC	prostate:	n/a
32	chr1:9750061-9750111	HCPEpiC	choroid plexus:	n/a
33	chr1:9750061-9750111	CMK	blood:	n/a
34	chr1:9750061-9750111	Hepatocyte	liver:	n/a
35	chr1:9750061-9750111	GM19239	blood:	n/a
36	chr1:9750061-9750111	GM12878	blood:	n/a
37	chr1:9750061-9750111	HCM	heart:	n/a
38	chr1:9750061-9750111	GM12891	blood:	n/a
39	chr1:9750061-9750111	HPAEpiC	pulmonary alveolar:	n/a
40	chr1:9750061-9750111	T-47D	breast:	n/a
41	chr1:9750061-9750111	GM12892	blood:	n/a
42	chr1:9750061-9750111	HAEpiC	amniotic membrane:	n/a
43	chr1:9750061-9750111	K562	blood:	n/a
44	chr1:9750061-9750111	HRE	kidney:	n/a
45	chr1:9750061-9750111	HEK293	kidney:	embryo
46	chr1:9750061-9750111	GM06990	blood:	n/a
47	chr1:9750061-9750111	HRPEpiC	eye:	n/a
48	chr1:9750061-9750111	Jurkat	blood:	n/a
49	chr1:9750061-9750111	NHBE	bronchial:	n/a
50	chr1:9750061-9750111	AoSMC	blood vessel:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:9749593..9751802-chr1:9777886..9780307,2	K562	blood:
2	chr1:9692182..9693930-chr1:9748451..9750202,2	K562	blood:
3	chr1:9746126..9748956-chr1:9749457..9751271,2	MCF-7	breast:
4	chr1:9745914..9747829-chr1:9748443..9751067,2	K562	blood:
5	chr1:9749103..9751299-chr1:9843003..9845112,2	K562	blood:
6	chr1:9748418..9751556-chr1:9755069..9757789,4	K562	blood:
7	chr1:9746141..9751802-chr1:9775034..9783332,13	K562	blood:
8	chr1:9686883..9687545-chr1:9749890..9750740,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000231789	TF binding region
ENSG00000231789	CpG island
ENSG00000231789	Chromatin interaction
ENSG00000171608	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3385337	chr1:9105242-10082223	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	549 gene(s)	inside rSNPs	diseases
2	nsv871610	chr1:9655795-10008221	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats 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 target site	43 gene(s)	inside rSNPs	diseases
3	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv832203	chr1:9726632-9860209	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	esv3408612	chr1:9748390-9751238	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Weak transcription Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	esv3426414	chr1:9748415-9751113	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	esv3424708	chr1:9748735-9771466	Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv3338032	chr1:9749165-9750613	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	4 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	chr1:9746800-9750600	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr1:9747000-9750400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
3	chr1:9747000-9750400	Active TSS	HSMM	muscle
4	chr1:9747000-9751200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr1:9747200-9750400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
6	chr1:9747200-9750400	Active TSS	Aorta	Aorta
7	chr1:9747200-9750600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:9747400-9750200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:9747800-9750400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
10	chr1:9748600-9750600	Active TSS	Right Atrium	heart
11	chr1:9748600-9750600	Active TSS	NHLF	lung
12	chr1:9748800-9750400	Active TSS	HSMMtube	muscle
13	chr1:9748800-9750600	Active TSS	Rectal Smooth Muscle	rectum
14	chr1:9749000-9750200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:9749000-9750200	Active TSS	Ovary	ovary
16	chr1:9749000-9750400	Active TSS	Lung	lung
17	chr1:9749000-9750400	Active TSS	A549	lung
18	chr1:9749000-9750800	Active TSS	H9 Cell Line	embryonic stem cell
19	chr1:9749000-9751600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr1:9749200-9750200	Active TSS	H1 Cell Line	embryonic stem cell
21	chr1:9749200-9750200	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:9749200-9750200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:9749200-9750200	Active TSS	Primary T helper naive cells from peripheral blood	blood
24	chr1:9749200-9750200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
25	chr1:9749200-9750200	Active TSS	Primary T killer memory cells from peripheral blood	blood
26	chr1:9749200-9750200	Active TSS	Colon Smooth Muscle	Colon
27	chr1:9749200-9750200	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr1:9749200-9750200	Active TSS	Hela-S3	cervix
29	chr1:9749200-9750200	Active TSS	HepG2	liver
30	chr1:9749200-9750200	Active TSS	K562	blood
31	chr1:9749200-9750200	Active TSS	NHEK	skin
32	chr1:9749200-9750400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr1:9749200-9750400	Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr1:9749200-9750400	Active TSS	iPS-15b Cell Line	embryonic stem cell
35	chr1:9749200-9750400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr1:9749200-9750400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr1:9749200-9750600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:9749200-9750600	Enhancers	Fetal Heart	heart
39	chr1:9749200-9750800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
40	chr1:9749200-9751000	Active TSS	ES-I3 Cell Line	embryonic stem cell
41	chr1:9749200-9751000	Active TSS	Fetal Brain Female	brain
42	chr1:9749400-9750200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr1:9749400-9750200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
44	chr1:9749400-9750200	Active TSS	Muscle Satellite Cultured Cells	--
45	chr1:9749400-9750200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr1:9749400-9750200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr1:9749400-9750200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
48	chr1:9749400-9750200	Active TSS	Gastric	stomach
49	chr1:9749400-9750200	Active TSS	Psoas Muscle	Psoas
50	chr1:9749400-9750200	Active TSS	Sigmoid Colon	Sigmoid Colon

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