Variant report

Variant	rs72935871
Chromosome Location	chr3:101443339-101443340
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:322)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:322 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr3:101443204-101444012	GM12892	blood:	n/a	n/a
2	POU2F2	chr3:101443157-101443821	GM12891	blood:	n/a	n/a
3	ETS1	chr3:101443064-101443972	A549	lung:	n/a	chr3:101443711-101443724 chr3:101443772-101443785 chr3:101443773-101443786 chr3:101443712-101443725 chr3:101443713-101443720
4	ELK1	chr3:101443283-101443863	K562	blood:	n/a	n/a
5	JUN	chr3:101443010-101443905	K562	blood:	n/a	chr3:101443273-101443282 chr3:101443883-101443891 chr3:101443879-101443890 chr3:101443884-101443891
6	YY1	chr3:101443204-101444009	ECC-1	luminal epithelium:	n/a	n/a
7	NR2F2	chr3:101443296-101444191	MCF-7	breast:	n/a	n/a
8	POLR2A	chr3:101443122-101444239	GM12878	blood:	n/a	n/a
9	SP1	chr3:101443135-101444002	A549	lung:	n/a	n/a
10	POLR2A	chr3:101443087-101443848	K562	blood:	n/a	n/a
11	TAF1	chr3:101443106-101443350	GM12891	blood:	n/a	n/a
12	MAX	chr3:101443140-101443990	SK-N-SH	brain:	n/a	n/a
13	PAX5	chr3:101443323-101443855	GM12878	blood:	n/a	n/a
14	POLR2A	chr3:101443321-101443680	MCF10A-Er-Src	breast:	n/a	n/a
15	ZBTB7A	chr3:101443057-101443592	ECC-1	luminal epithelium:	n/a	n/a
16	NFIC	chr3:101443288-101443911	ECC-1	luminal epithelium:	n/a	n/a
17	POLR2A	chr3:101443112-101444143	K562	blood:	n/a	n/a
18	CBX3	chr3:101443033-101444076	K562	blood:	n/a	chr3:101443144-101443155
19	TAF1	chr3:101443248-101443737	H1-neurons	neurons:	n/a	n/a
20	MAX	chr3:101443042-101444289	ECC-1	luminal epithelium:	n/a	n/a
21	CREB1	chr3:101443181-101443884	H1-hESC	embryonic stem cell:	n/a	n/a
22	PML	chr3:101443031-101444237	GM12878	blood:	n/a	chr3:101443305-101443314
23	E2F4	chr3:101443295-101444015	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr3:101443193-101443569	H1-hESC	embryonic stem cell:	n/a	n/a
25	ELF1	chr3:101443138-101443960	HepG2	liver:	n/a	chr3:101443691-101443700
26	POLR2A	chr3:101443123-101444549	K562	blood:	n/a	n/a
27	POLR2A	chr3:101443230-101443941	GM12878	blood:	n/a	n/a
28	POLR2A	chr3:101443223-101444053	GM12878	blood:	n/a	n/a
29	ETS1	chr3:101443199-101443874	GM12878	blood:	n/a	chr3:101443711-101443724 chr3:101443772-101443785 chr3:101443773-101443786 chr3:101443712-101443725 chr3:101443713-101443720
30	E2F6	chr3:101443247-101444060	A549	lung:	n/a	n/a
31	EP300	chr3:101442999-101443423	K562	blood:	n/a	chr3:101443270-101443284
32	TAF1	chr3:101443082-101444037	ECC-1	luminal epithelium:	n/a	n/a
33	YY1	chr3:101443260-101443890	K562	blood:	n/a	n/a
34	GABPA	chr3:101443236-101443729	A549	lung:	n/a	n/a
35	MAX	chr3:101443291-101443921	K562	blood:	n/a	n/a
36	MAZ	chr3:101443210-101443864	HepG2	liver:	n/a	n/a
37	SIN3AK20	chr3:101443096-101443426	A549	lung:	n/a	n/a
38	GTF2F1	chr3:101443169-101444063	K562	blood:	n/a	n/a
39	POLR2A	chr3:101443145-101444314	HCT-116	colon:	n/a	n/a
40	POLR2A	chr3:101443098-101444046	NB4	blood:	n/a	n/a
41	FOSL2	chr3:101443112-101443569	HepG2	liver:	n/a	chr3:101443273-101443282
42	YY1	chr3:101443302-101443869	GM12891	blood:	n/a	n/a
43	CUX1	chr3:101443049-101443524	K562	blood:	n/a	n/a
44	POLR2A	chr3:101443072-101443819	HUVEC	blood vessel:	n/a	n/a
45	NFIC	chr3:101442973-101443653	GM12878	blood:	n/a	n/a
46	TBP	chr3:101443096-101443957	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr3:101443241-101443617	A549	lung:	n/a	n/a
48	YY1	chr3:101443241-101443969	A549	lung:	n/a	n/a
49	ELF1	chr3:101443249-101444009	GM12878	blood:	n/a	chr3:101443691-101443700
50	BCL3	chr3:101443024-101444065	A549	lung:	n/a	chr3:101443275-101443284

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:101443325-101443375	PFSK-1	brain:	n/a
2	chr3:101443325-101443375	HNPCEpiC	eye:	n/a
3	chr3:101443325-101443375	SKMC	muscle:	n/a
4	chr3:101443325-101443375	MCF-7	breast:	n/a
5	chr3:101443325-101443375	RPTEC	kidney:	n/a
6	chr3:101443325-101443375	HRPEpiC	eye:	n/a
7	chr3:101443325-101443375	GM12891	blood:	n/a
8	chr3:101443325-101443375	PANC-1	pancreas:	n/a
9	chr3:101443325-101443375	HL-60	blood:	n/a
10	chr3:101443325-101443375	GM12878	blood:	n/a
11	chr3:101443325-101443375	K562	blood:	n/a
12	chr3:101443325-101443375	GM12892	blood:	n/a
13	chr3:101443325-101443375	HepG2	liver:	n/a
14	chr3:101443325-101443375	NHDF-neo	bronchial:	n/a
15	chr3:101443325-101443375	SK-N-MC	brain:	n/a
16	chr3:101443325-101443375	HCPEpiC	choroid plexus:	n/a
17	chr3:101443325-101443375	BE2_C	brain:	n/a
18	chr3:101443325-101443375	AG09319	gingival:	n/a
19	chr3:101443325-101443375	HCF	heart:	n/a
20	chr3:101443325-101443375	GM19239	blood:	n/a
21	chr3:101443325-101443375	IMR90	lung:	fetal
22	chr3:101443325-101443375	HCM	heart:	n/a
23	chr3:101443325-101443375	Jurkat	blood:	n/a
24	chr3:101443325-101443375	HEK293	kidney:	embryo
25	chr3:101443325-101443375	MCF10A-Er-Src	breast:	n/a
26	chr3:101443325-101443375	NHBE	bronchial:	n/a
27	chr3:101443325-101443375	T-47D	breast:	n/a
28	chr3:101443325-101443375	ECC-1	luminal epithelium:	n/a
29	chr3:101443325-101443375	U87	brain:	n/a
30	chr3:101443325-101443375	AG10803	skin:	n/a
31	chr3:101443325-101443375	Hepatocyte	liver:	n/a
32	chr3:101443325-101443375	AoSMC	blood vessel:	n/a
33	chr3:101443325-101443375	SAEC	small airway:	n/a
34	chr3:101443325-101443375	AG04450	lung:	fetal
35	chr3:101443325-101443375	LNCaP	prostate:	n/a
36	chr3:101443325-101443375	BJ	skin:	n/a
37	chr3:101443325-101443375	ovcar-3	ovarian:	n/a
38	chr3:101443325-101443375	HPAEpiC	pulmonary alveolar:	n/a
39	chr3:101443325-101443375	HRCEpiC	kidney:	n/a
40	chr3:101443325-101443375	PrEC	prostate:	n/a
41	chr3:101443325-101443375	HEEpiC	esophagus:	n/a
42	chr3:101443325-101443375	HIPEpiC	eye:	n/a
43	chr3:101443325-101443375	Hela-S3	cervix:	n/a
44	chr3:101443325-101443375	GM06990	blood:	n/a
45	chr3:101443325-101443375	AG04449	skin:	fetal
46	chr3:101443325-101443375	AG09309	skin:	n/a
47	chr3:101443325-101443375	HMEC	breast:	n/a
48	chr3:101443325-101443375	CMK	blood:	n/a
49	chr3:101443325-101443375	HCT-116	colon:	n/a
50	chr3:101443325-101443375	HAEpiC	amniotic membrane:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:101442986..101444875-chr3:101449623..101452459,2	K562	blood:
2	chr3:101402329..101408159-chr3:101436960..101445251,11	K562	blood:
3	chr3:101279212..101281211-chr3:101443101..101445753,2	MCF-7	breast:
4	chr3:101404015..101406572-chr3:101442820..101444519,2	MCF-7	breast:
5	chr3:101443306..101445609-chr3:101566965..101569290,3	K562	blood:

No data

Variant related genes	Relation type
CEP97	TF binding region
CEP97	CpG island
ENSG00000182504	Chromatin interaction
ENSG00000114391	Chromatin interaction
ENSG00000144802	Chromatin interaction
ENSG00000174173	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs16844264	1.00[AMR][1000 genomes]
rs56871732	1.00[AMR][1000 genomes]
rs57288874	1.00[AMR][1000 genomes]
rs57768297	1.00[AMR][1000 genomes]
rs58060577	1.00[AMR][1000 genomes]
rs59212280	1.00[AMR][1000 genomes]
rs59610252	1.00[AMR][1000 genomes]
rs59761426	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59790563	1.00[AMR][1000 genomes]
rs60451587	1.00[AMR][1000 genomes]
rs60491518	1.00[AMR][1000 genomes]
rs61302621	1.00[AMR][1000 genomes]
rs61468230	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61473551	1.00[AMR][1000 genomes]
rs72931705	1.00[AMR][1000 genomes]
rs72931709	1.00[AMR][1000 genomes]
rs72931710	1.00[AMR][1000 genomes]
rs72931711	1.00[AMR][1000 genomes]
rs72931715	1.00[AMR][1000 genomes]
rs72931719	1.00[AMR][1000 genomes]
rs72931774	1.00[AMR][1000 genomes]
rs72931789	1.00[AMR][1000 genomes]
rs72933808	1.00[AMR][1000 genomes]
rs72933810	1.00[AMR][1000 genomes]
rs72933821	1.00[AMR][1000 genomes]
rs72933838	1.00[AMR][1000 genomes]
rs72935816	1.00[AMR][1000 genomes]
rs72935835	1.00[AMR][1000 genomes]
rs72935839	1.00[AMR][1000 genomes]
rs72935846	1.00[AMR][1000 genomes]
rs72935852	1.00[AMR][1000 genomes]
rs72935865	1.00[AMR][1000 genomes]
rs72935875	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72935894	1.00[AMR][1000 genomes]
rs72937635	1.00[AMR][1000 genomes]
rs72937638	1.00[AMR][1000 genomes]
rs72937639	1.00[AMR][1000 genomes]
rs72937642	1.00[AMR][1000 genomes]
rs72937646	1.00[AMR][1000 genomes]
rs72937653	1.00[AMR][1000 genomes]
rs72937664	1.00[AMR][1000 genomes]
rs72937667	1.00[AMR][1000 genomes]
rs72937684	1.00[AMR][1000 genomes]
rs72937701	1.00[AMR][1000 genomes]
rs72937810	1.00[AMR][1000 genomes]
rs72937817	1.00[AMR][1000 genomes]
rs72939605	1.00[AMR][1000 genomes]
rs72939606	1.00[AMR][1000 genomes]
rs72946006	1.00[AMR][1000 genomes]
rs72946019	1.00[AMR][1000 genomes]
rs72946027	1.00[AMR][1000 genomes]
rs72946028	1.00[AMR][1000 genomes]
rs72947370	1.00[AMR][1000 genomes]
rs72947385	1.00[AMR][1000 genomes]
rs72948009	1.00[AMR][1000 genomes]
rs72948019	1.00[AMR][1000 genomes]
rs72948050	1.00[AMR][1000 genomes]
rs72948052	1.00[AMR][1000 genomes]
rs72948055	1.00[AMR][1000 genomes]
rs72948056	1.00[AMR][1000 genomes]
rs72948070	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv497784	chr3:101315009-102092989	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv997407	chr3:101384031-101611391	Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	nsv536675	chr3:101384031-101611391	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	esv3341424	chr3:101441137-101443460	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:101442600-101443400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr3:101442600-101443800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr3:101442600-101444600	Active TSS	A549	lung
4	chr3:101442600-101444800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr3:101442600-101444800	Active TSS	Duodenum Mucosa	Duodenum
6	chr3:101442600-101444800	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr3:101442600-101444800	Active TSS	Rectal Mucosa Donor 31	rectum
8	chr3:101442600-101444800	Active TSS	Right Atrium	heart
9	chr3:101442600-101445000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr3:101442600-101445000	Active TSS	Colonic Mucosa	Colon
11	chr3:101442600-101445400	Active TSS	K562	blood
12	chr3:101442800-101443400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr3:101442800-101443400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr3:101442800-101443400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
15	chr3:101442800-101443400	Flanking Active TSS	Primary B cells from peripheral blood	blood
16	chr3:101442800-101443400	Flanking Active TSS	Primary T cells from cord blood	blood
17	chr3:101442800-101443400	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr3:101442800-101443400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr3:101442800-101443400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
20	chr3:101442800-101443400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
21	chr3:101442800-101443400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
22	chr3:101442800-101443400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr3:101442800-101443400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr3:101442800-101443400	Flanking Active TSS	Liver	Liver
25	chr3:101442800-101443400	Flanking Active TSS	Dnd41	blood
26	chr3:101442800-101443400	Active TSS	HepG2	liver
27	chr3:101442800-101444400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr3:101442800-101444400	Active TSS	Thymus	Thymus
29	chr3:101442800-101444400	Active TSS	HUVEC	blood vessel
30	chr3:101442800-101444600	Active TSS	Osteobl	bone
31	chr3:101442800-101444800	Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr3:101442800-101444800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
33	chr3:101442800-101444800	Active TSS	Brain Germinal Matrix	brain
34	chr3:101442800-101444800	Active TSS	Fetal Intestine Large	intestine
35	chr3:101442800-101444800	Active TSS	Fetal Kidney	kidney
36	chr3:101442800-101444800	Active TSS	Psoas Muscle	Psoas
37	chr3:101442800-101444800	Active TSS	HMEC	breast
38	chr3:101442800-101445000	Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr3:101442800-101445000	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr3:101442800-101445000	Active TSS	Fetal Stomach	stomach
41	chr3:101442800-101445200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr3:101442800-101445200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr3:101442800-101445200	Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr3:101442800-101445200	Active TSS	NHDF-Ad	bronchial
45	chr3:101442800-101445200	Active TSS	NHLF	lung
46	chr3:101442800-101445800	Active TSS	GM12878-XiMat	blood
47	chr3:101443000-101443400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
48	chr3:101443000-101443400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
49	chr3:101443000-101443400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
50	chr3:101443000-101443400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood

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