Variant report

Variant	rs41292697
Chromosome Location	chr1:95538583-95538584
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:367)
CpG islands
(count:122)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:367 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr1:95538085-95538776	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr1:95537700-95538885	HepG2	liver:	n/a	n/a
3	NR2F2	chr1:95537902-95539266	K562	blood:	n/a	chr1:95538494-95538509
4	MAX	chr1:95538108-95538636	K562	blood:	n/a	n/a
5	MTA3	chr1:95538079-95539206	GM12878	blood:	n/a	n/a
6	ELF1	chr1:95537934-95538742	HepG2	liver:	n/a	chr1:95538479-95538488 chr1:95538478-95538489
7	POLR2A	chr1:95538086-95538880	A549	lung:	n/a	n/a
8	POLR2A	chr1:95537332-95538856	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr1:95537954-95539075	GM12878	blood:	n/a	n/a
10	POLR2A	chr1:95538309-95538654	A549	lung:	n/a	n/a
11	NRF1	chr1:95538200-95539002	GM12878	blood:	n/a	chr1:95538465-95538474 chr1:95538792-95538803 chr1:95538465-95538476
12	MAX	chr1:95537991-95538995	ECC-1	luminal epithelium:	n/a	n/a
13	TAF1	chr1:95538213-95538698	K562	blood:	n/a	n/a
14	YY1	chr1:95538374-95538641	A549	lung:	n/a	n/a
15	E2F6	chr1:95538238-95538789	A549	lung:	n/a	chr1:95538466-95538475
16	POLR2A	chr1:95538078-95538761	K562	blood:	n/a	n/a
17	HEY1	chr1:95538301-95538979	K562	blood:	n/a	n/a
18	ZNF263	chr1:95538268-95538982	HEK293-T-REx	kidney:	n/a	n/a
19	POLR2A	chr1:95538087-95538976	MCF-7	breast:	n/a	n/a
20	SIN3AK20	chr1:95538080-95538680	H1-hESC	embryonic stem cell:	n/a	n/a
21	RCOR1	chr1:95538033-95538974	GM12878	blood:	n/a	n/a
22	TBL1XR1	chr1:95537860-95539164	GM12878	blood:	n/a	n/a
23	HEY1	chr1:95538322-95538741	K562	blood:	n/a	n/a
24	MAZ	chr1:95537952-95538747	Hela-S3	cervix:	n/a	n/a
25	SIN3AK20	chr1:95538077-95538670	K562	blood:	n/a	n/a
26	REST	chr1:95538341-95538692	SK-N-SH	brain:	n/a	n/a
27	POLR2A	chr1:95537770-95539033	HepG2	liver:	n/a	n/a
28	POLR2A	chr1:95537944-95539004	H1-neurons	neurons:	n/a	n/a
29	FOXM1	chr1:95538111-95538731	GM12878	blood:	n/a	n/a
30	POLR2A	chr1:95538066-95538879	HepG2	liver:	n/a	n/a
31	ELF1	chr1:95537917-95538886	SK-N-SH	brain:	n/a	chr1:95538479-95538488 chr1:95538478-95538489
32	EGR1	chr1:95538326-95539025	K562	blood:	n/a	chr1:95538466-95538475
33	PAX5	chr1:95538358-95538639	GM12878	blood:	n/a	n/a
34	ELF1	chr1:95537979-95538917	SK-N-SH	brain:	n/a	chr1:95538479-95538488 chr1:95538478-95538489
35	PAX5	chr1:95538402-95538665	GM12878	blood:	n/a	n/a
36	MAFK	chr1:95538014-95538635	HepG2	liver:	n/a	chr1:95538136-95538152
37	POLR2A	chr1:95538032-95539018	HL-60	blood:	n/a	n/a
38	REST	chr1:95538147-95538803	A549	lung:	n/a	n/a
39	CEBPB	chr1:95538145-95538891	ECC-1	luminal epithelium:	n/a	n/a
40	ZBTB33	chr1:95538320-95538662	A549	lung:	n/a	n/a
41	ARID3A	chr1:95537686-95538981	HepG2	liver:	n/a	n/a
42	MAX	chr1:95537919-95538962	Hela-S3	cervix:	n/a	n/a
43	FOXP2	chr1:95538131-95538605	PFSK-1	brain:	n/a	n/a
44	CCNT2	chr1:95538373-95538724	K562	blood:	n/a	n/a
45	MAZ	chr1:95538055-95538867	GM12878	blood:	n/a	n/a
46	MBD4	chr1:95538079-95538872	HepG2	liver:	n/a	n/a
47	EGR1	chr1:95538393-95538631	GM12878	blood:	n/a	chr1:95538466-95538475
48	YY1	chr1:95538036-95538633	HepG2	liver:	n/a	n/a
49	MYC	chr1:95537993-95539193	K562	blood:	n/a	n/a
50	ZNF143	chr1:95537983-95538794	H1-hESC	embryonic stem cell:	n/a	chr1:95538197-95538206 chr1:95538261-95538279 chr1:95538197-95538215

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:95538546-95538596	BJ	skin:	n/a
2	chr1:95538546-95538596	SK-N-SH	brain:	n/a
3	chr1:95538550-95538600	Hepatocyte	liver:	n/a
4	chr1:95538546-95538596	HNPCEpiC	eye:	n/a
5	chr1:95538546-95538596	HUVEC	blood vessel:	n/a
6	chr1:95538550-95538600	HPAEpiC	pulmonary alveolar:	n/a
7	chr1:95538546-95538596	MCF10A-Er-Src	breast:	n/a
8	chr1:95538550-95538600	NHDF-neo	bronchial:	n/a
9	chr1:95538546-95538596	NB4	blood:	n/a
10	chr1:95538550-95538600	BE2_C	brain:	n/a
11	chr1:95538550-95538600	NB4	blood:	n/a
12	chr1:95538546-95538596	AG04450	lung:	fetal
13	chr1:95538546-95538596	IMR90	lung:	fetal
14	chr1:95538550-95538600	GM12892	blood:	n/a
15	chr1:95538550-95538600	LNCaP	prostate:	n/a
16	chr1:95538550-95538600	Jurkat	blood:	n/a
17	chr1:95538550-95538600	SK-N-SH_RA	brain:	n/a
18	chr1:95538550-95538600	NT2-D1	testis:	n/a
19	chr1:95538550-95538600	K562	blood:	n/a
20	chr1:95538550-95538600	SKMC	muscle:	n/a
21	chr1:95538546-95538596	NH-A	brain:	n/a
22	chr1:95538550-95538600	HIPEpiC	eye:	n/a
23	chr1:95538546-95538596	T-47D	breast:	n/a
24	chr1:95538546-95538596	NT2-D1	testis:	n/a
25	chr1:95538550-95538600	ovcar-3	ovarian:	n/a
26	chr1:95538550-95538600	CMK	blood:	n/a
27	chr1:95538546-95538596	HRCEpiC	kidney:	n/a
28	chr1:95538546-95538596	U87	brain:	n/a
29	chr1:95538546-95538596	PFSK-1	brain:	n/a
30	chr1:95538550-95538600	PFSK-1	brain:	n/a
31	chr1:95538546-95538596	K562	blood:	n/a
32	chr1:95538546-95538596	NHDF-neo	bronchial:	n/a
33	chr1:95538546-95538596	RPTEC	kidney:	n/a
34	chr1:95538546-95538596	MCF-7	breast:	n/a
35	chr1:95538546-95538596	GM12878	blood:	n/a
36	chr1:95538546-95538596	ovcar-3	ovarian:	n/a
37	chr1:95538550-95538600	MCF10A-Er-Src	breast:	n/a
38	chr1:95538550-95538600	HRPEpiC	eye:	n/a
39	chr1:95538550-95538600	HRE	kidney:	n/a
40	chr1:95538546-95538596	SAEC	small airway:	n/a
41	chr1:95538546-95538596	AG09309	skin:	n/a
42	chr1:95538546-95538596	HCF	heart:	n/a
43	chr1:95538546-95538596	HMEC	breast:	n/a
44	chr1:95538550-95538600	HCT-116	colon:	n/a
45	chr1:95538550-95538600	AoSMC	blood vessel:	n/a
46	chr1:95538550-95538600	AG09309	skin:	n/a
47	chr1:95538546-95538596	HPAEpiC	pulmonary alveolar:	n/a
48	chr1:95538550-95538600	AG04449	skin:	fetal
49	chr1:95538550-95538600	ProgFib	skin:	n/a
50	chr1:95538546-95538596	PrEC	prostate:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:95537299..95540042-chr1:95699496..95701047,2	K562	blood:
2	chr1:95537109..95538703-chr1:95581704..95583330,2	MCF-7	breast:
3	chr1:95536810..95539827-chr1:95698878..95701315,3	K562	blood:

No data

Variant related genes	Relation type
ALG14	TF binding region
ALG14	CpG island
ENSG00000152078	Chromatin interaction
ENSG00000226026	Chromatin interaction
ENSG00000122481	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs56032536	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56204307	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs57040913	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57093304	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57122039	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57213707	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57950891	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59130528	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59338711	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs59569067	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs60405904	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60491236	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60549805	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60555923	0.94[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs60757816	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61488063	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61772226	1.00[AFR][1000 genomes]
rs61774271	1.00[AFR][1000 genomes]
rs74101957	0.81[EUR][1000 genomes]
rs74101958	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs74101961	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs74101968	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs74101972	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs74101979	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101983	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101989	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101991	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101993	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101995	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101996	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101998	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101999	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74102002	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74103604	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74103606	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74103607	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74103608	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74103627	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74103628	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74103629	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74103634	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74103644	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74103651	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs74103654	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830636	chr1:95495849-95703126	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 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	chr1:95537200-95539000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:95537200-95539200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:95537200-95539200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:95537200-95539200	Active TSS	Colon Smooth Muscle	Colon
5	chr1:95537200-95539200	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr1:95537400-95538600	Active TSS	Hela-S3	cervix
7	chr1:95537400-95538800	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr1:95537400-95538800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:95537400-95538800	Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr1:95537400-95538800	Active TSS	NH-A	brain
11	chr1:95537400-95539000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr1:95537400-95539000	Active TSS	Primary T killer memory cells from peripheral blood	blood
13	chr1:95537400-95539000	Active TSS	Brain Germinal Matrix	brain
14	chr1:95537400-95539000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr1:95537400-95539000	Active TSS	Right Atrium	heart
16	chr1:95537400-95539000	Active TSS	Small Intestine	intestine
17	chr1:95537400-95539000	Active TSS	Stomach Mucosa	stomach
18	chr1:95537400-95539200	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr1:95537400-95539200	Active TSS	Fetal Muscle Trunk	muscle
20	chr1:95537400-95539200	Active TSS	Psoas Muscle	Psoas
21	chr1:95537400-95539400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr1:95537600-95538800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:95537600-95538800	Active TSS	Brain Anterior Caudate	brain
24	chr1:95537600-95538800	Active TSS	Fetal Stomach	stomach
25	chr1:95537600-95538800	Active TSS	HMEC	breast
26	chr1:95537600-95538800	Active TSS	HSMMtube	muscle
27	chr1:95537600-95539000	Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr1:95537600-95539000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:95537600-95539000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr1:95537600-95539000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr1:95537600-95539000	ZNF genes & repeats	Fetal Brain Male	brain
32	chr1:95537600-95539000	Active TSS	Fetal Intestine Large	intestine
33	chr1:95537600-95539000	Active TSS	Placenta	Placenta
34	chr1:95537600-95539000	Active TSS	Sigmoid Colon	Sigmoid Colon
35	chr1:95537600-95539000	Active TSS	Thymus	Thymus
36	chr1:95537600-95539000	Active TSS	HSMM	muscle
37	chr1:95537600-95539200	Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr1:95537600-95539200	Active TSS	H9 Cell Line	embryonic stem cell
39	chr1:95537600-95539200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr1:95537600-95539200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr1:95537600-95539200	Active TSS	Aorta	Aorta
42	chr1:95537600-95539200	Active TSS	Brain Substantia Nigra	brain
43	chr1:95537600-95539200	Active TSS	Colonic Mucosa	Colon
44	chr1:95537600-95539200	Active TSS	Fetal Intestine Small	intestine
45	chr1:95537600-95539200	Active TSS	Ovary	ovary
46	chr1:95537600-95539200	Active TSS	Right Ventricle	heart
47	chr1:95537600-95539400	Active TSS	H1 Cell Line	embryonic stem cell
48	chr1:95537600-95539400	Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr1:95537600-95539400	Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr1:95537800-95538800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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