Variant report

Variant	rs12533982
Chromosome Location	chr7:98030513-98030514
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:241)
CpG islands
(count:122)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:241 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr7:98030376-98030864	H1-hESC	embryonic stem cell:	n/a	n/a
2	ZEB1	chr7:98029847-98030881	GM12878	blood:	n/a	n/a
3	POLR2A	chr7:98030251-98030516	HepG2	liver:	n/a	n/a
4	E2F6	chr7:98029867-98030532	H1-hESC	embryonic stem cell:	n/a	chr7:98030187-98030198
5	RUNX3	chr7:98030455-98030813	GM12878	blood:	n/a	n/a
6	POLR2A	chr7:98030010-98030544	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr7:98030075-98030543	MCF-7	breast:	n/a	n/a
8	ZNF143	chr7:98030469-98030809	K562	blood:	n/a	n/a
9	CHD2	chr7:98029512-98030870	Hela-S3	cervix:	n/a	n/a
10	ZNF143	chr7:98030253-98030810	Hela-S3	cervix:	n/a	n/a
11	CTCF	chr7:98030294-98031064	HCT-116	colon:	n/a	chr7:98030639-98030655 chr7:98030640-98030653 chr7:98030638-98030656
12	RAD21	chr7:98030300-98030988	MCF-7	breast:	n/a	n/a
13	MAZ	chr7:98029672-98030959	IMR90	lung:	n/a	n/a
14	E2F6	chr7:98029681-98030713	K562	blood:	n/a	chr7:98030187-98030198
15	RAD21	chr7:98030492-98030837	HepG2	liver:	n/a	n/a
16	ZNF143	chr7:98029844-98030842	GM12878	blood:	n/a	n/a
17	RAD21	chr7:98030281-98030835	IMR90	lung:	n/a	n/a
18	POLR2A	chr7:98029883-98030705	H1-hESC	embryonic stem cell:	n/a	n/a
19	MYC	chr7:98030029-98030813	K562	blood:	n/a	n/a
20	HDAC2	chr7:98029885-98030960	MCF-7	breast:	n/a	n/a
21	CTCFL	chr7:98030319-98030799	K562	blood:	n/a	n/a
22	RAD21	chr7:98030493-98030870	ECC-1	luminal epithelium:	n/a	n/a
23	BACH1	chr7:98030491-98030880	H1-hESC	embryonic stem cell:	n/a	n/a
24	ZEB1	chr7:98029952-98030718	GM12878	blood:	n/a	n/a
25	POLR2A	chr7:98029733-98030724	Hela-S3	cervix:	n/a	n/a
26	EGR1	chr7:98030327-98030703	GM12878	blood:	n/a	chr7:98030531-98030545
27	YY1	chr7:98029974-98030753	GM12891	blood:	n/a	chr7:98030411-98030425
28	E2F4	chr7:98030257-98030758	MCF10A-Er-Src	breast:	n/a	n/a
29	ZBTB7A	chr7:98030214-98030735	HepG2	liver:	n/a	chr7:98030579-98030587 chr7:98030639-98030648
30	TEAD4	chr7:98030066-98030858	SK-N-SH	brain:	n/a	n/a
31	MAZ	chr7:98029057-98030904	K562	blood:	n/a	n/a
32	CHD2	chr7:98029855-98030718	GM12878	blood:	n/a	n/a
33	POLR2A	chr7:98029691-98030575	K562	blood:	n/a	n/a
34	MXI1	chr7:98029874-98031023	IMR90	lung:	n/a	n/a
35	CTCF	chr7:98030505-98030800	T-47D	breast:	n/a	chr7:98030639-98030655 chr7:98030640-98030653 chr7:98030638-98030656
36	MAX	chr7:98030023-98030771	K562	blood:	n/a	n/a
37	RAD21	chr7:98029888-98031369	SK-N-SH	brain:	n/a	n/a
38	TCF12	chr7:98030449-98030786	H1-hESC	embryonic stem cell:	n/a	n/a
39	RAD21	chr7:98030471-98030896	HepG2	liver:	n/a	n/a
40	RAD21	chr7:98030321-98030826	Hela-S3	cervix:	n/a	n/a
41	MAX	chr7:98029894-98030825	K562	blood:	n/a	n/a
42	EGR1	chr7:98029886-98030772	K562	blood:	n/a	chr7:98029972-98029986 chr7:98030531-98030545 chr7:98030003-98030017
43	SP1	chr7:98030123-98030860	A549	lung:	n/a	chr7:98030592-98030601 chr7:98030590-98030602 chr7:98030590-98030601 chr7:98030590-98030602 chr7:98030591-98030601 chr7:98030534-98030545 chr7:98030591-98030600 chr7:98030592-98030601 chr7:98030558-98030568 chr7:98030558-98030568 chr7:98030591-98030601
44	YY1	chr7:98030171-98030792	HCT-116	colon:	n/a	chr7:98030411-98030425
45	TCF3	chr7:98030293-98030747	GM12878	blood:	n/a	n/a
46	CTCF	chr7:98030247-98030821	MCF-7	breast:	n/a	chr7:98030639-98030655 chr7:98030640-98030653 chr7:98030638-98030656
47	E2F6	chr7:98029924-98030550	K562	blood:	n/a	chr7:98030187-98030198
48	MYC	chr7:98030416-98030740	MCF-7	breast:	n/a	n/a
49	IRF4	chr7:98030494-98030865	GM12878	blood:	n/a	n/a
50	POLR2A	chr7:98029805-98030574	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:98030477-98030527	SK-N-MC	brain:	n/a
2	chr7:98030482-98030532	HEEpiC	esophagus:	n/a
3	chr7:98030482-98030532	NT2-D1	testis:	n/a
4	chr7:98030482-98030532	BE2_C	brain:	n/a
5	chr7:98030482-98030532	SAEC	small airway:	n/a
6	chr7:98030477-98030527	AoSMC	blood vessel:	n/a
7	chr7:98030477-98030527	SAEC	small airway:	n/a
8	chr7:98030477-98030527	SKMC	muscle:	n/a
9	chr7:98030482-98030532	PrEC	prostate:	n/a
10	chr7:98030482-98030532	AG09319	gingival:	n/a
11	chr7:98030477-98030527	HIPEpiC	eye:	n/a
12	chr7:98030482-98030532	HCF	heart:	n/a
13	chr7:98030477-98030527	HEK293	kidney:	embryo
14	chr7:98030477-98030527	AG09309	skin:	n/a
15	chr7:98030477-98030527	ovcar-3	ovarian:	n/a
16	chr7:98030477-98030527	GM19239	blood:	n/a
17	chr7:98030477-98030527	K562	blood:	n/a
18	chr7:98030477-98030527	SK-N-SH_RA	brain:	n/a
19	chr7:98030477-98030527	HRPEpiC	eye:	n/a
20	chr7:98030477-98030527	HPAEpiC	pulmonary alveolar:	n/a
21	chr7:98030477-98030527	NHDF-neo	bronchial:	n/a
22	chr7:98030482-98030532	HepG2	liver:	n/a
23	chr7:98030482-98030532	NHBE	bronchial:	n/a
24	chr7:98030477-98030527	T-47D	breast:	n/a
25	chr7:98030482-98030532	ECC-1	luminal epithelium:	n/a
26	chr7:98030477-98030527	HNPCEpiC	eye:	n/a
27	chr7:98030477-98030527	U87	brain:	n/a
28	chr7:98030477-98030527	HRE	kidney:	n/a
29	chr7:98030482-98030532	AG10803	skin:	n/a
30	chr7:98030477-98030527	HL-60	blood:	n/a
31	chr7:98030477-98030527	BE2_C	brain:	n/a
32	chr7:98030477-98030527	NHBE	bronchial:	n/a
33	chr7:98030482-98030532	HCM	heart:	n/a
34	chr7:98030477-98030527	PANC-1	pancreas:	n/a
35	chr7:98030482-98030532	A549	lung:	n/a
36	chr7:98030477-98030527	LNCaP	prostate:	n/a
37	chr7:98030477-98030527	H1-hESC	embryonic stem cell:	embryo
38	chr7:98030482-98030532	MCF-7	breast:	n/a
39	chr7:98030477-98030527	BJ	skin:	n/a
40	chr7:98030482-98030532	T-47D	breast:	n/a
41	chr7:98030482-98030532	NHDF-neo	bronchial:	n/a
42	chr7:98030477-98030527	MCF10A-Er-Src	breast:	n/a
43	chr7:98030477-98030527	HUVEC	blood vessel:	n/a
44	chr7:98030477-98030527	A549	lung:	n/a
45	chr7:98030482-98030532	HEK293	kidney:	embryo
46	chr7:98030482-98030532	HL-60	blood:	n/a
47	chr7:98030482-98030532	HMEC	breast:	n/a
48	chr7:98030482-98030532	Caco-2	colon:	n/a
49	chr7:98030477-98030527	GM12878	blood:	n/a
50	chr7:98030482-98030532	HUVEC	blood vessel:	n/a

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:97948846..97953573-chr7:98026962..98031463,6	MCF-7	breast:
2	chr7:97501305..97502999-chr7:98028998..98030520,2	K562	blood:
3	chr7:97951366..97952341-chr7:98030179..98031154,3	MCF-7	breast:
4	chr7:98030119..98030807-chr7:104652916..104653616,2	Hela-S3	cervix:
5	chr7:97951456..97952264-chr7:98030192..98031073,2	MCF-7	breast:
6	chr7:97948534..97953392-chr7:98027922..98031084,5	MCF-7	breast:
7	chr7:98015865..98017595-chr7:98028896..98031691,2	MCF-7	breast:
8	chr7:98028440..98031404-chr7:98475727..98477431,2	MCF-7	breast:
9	chr7:97851992..97854043-chr7:98027877..98030619,2	K562	blood:
10	chr7:97880638..97884180-chr7:98029742..98031678,3	MCF-7	breast:

No data

Variant related genes	Relation type
BAIAP2L1	TF binding region
BAIAP2L1	CpG island
ENSG00000205356	Chromatin interaction
ENSG00000228393	Chromatin interaction
ENSG00000272950	Chromatin interaction
ENSG00000070669	Chromatin interaction
ENSG00000164713	Chromatin interaction
ENSG00000196367	Chromatin interaction
ENSG00000214389	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1006169	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10953254	0.85[AMR][1000 genomes]
rs11768599	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11769950	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11772432	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12539761	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1541409	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1985593	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2240348	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3801258	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3944111	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4236537	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4729432	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55648546	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55946416	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56997921	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59120980	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62478160	0.84[AMR][1000 genomes]
rs62478201	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62478228	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62478235	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62479858	0.83[AMR][1000 genomes]
rs9640655	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9641236	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9641237	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031371	chr7:97312452-98070538	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1017481	chr7:97597641-98041043	Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
3	nsv539031	chr7:97597641-98041043	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer 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	32 gene(s)	inside rSNPs	diseases
4	nsv1019531	chr7:97653880-98034129	Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv539032	chr7:97653880-98034129	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv831067	chr7:97860169-98065528	Bivalent Enhancer Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv1026477	chr7:97869446-98034129	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv888766	chr7:97975542-98123880	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
9	esv1795864	chr7:98013507-98040788	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
10	nsv607919	chr7:98021211-98124854	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
11	nsv539034	chr7:98029119-98106260	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
12	esv3405212	chr7:98029241-98031789	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:98027600-98030600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr7:98027800-98030800	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr7:98027800-98031000	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr7:98028000-98031000	Active TSS	Rectal Smooth Muscle	rectum
5	chr7:98028400-98030600	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr7:98028400-98030600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr7:98028400-98030600	Active TSS	Duodenum Mucosa	Duodenum
8	chr7:98028400-98030600	Active TSS	HMEC	breast
9	chr7:98028400-98030800	Active TSS	H1 Cell Line	embryonic stem cell
10	chr7:98028400-98030800	Active TSS	Rectal Mucosa Donor 31	rectum
11	chr7:98028400-98030800	Active TSS	A549	lung
12	chr7:98028600-98030800	Active TSS	HepG2	liver
13	chr7:98028600-98030800	Active TSS	K562	blood
14	chr7:98028600-98031000	Active TSS	H9 Cell Line	embryonic stem cell
15	chr7:98028600-98031000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr7:98028600-98031000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr7:98028800-98030800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr7:98028800-98031000	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr7:98028800-98031000	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr7:98029000-98030600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr7:98029000-98030600	Active TSS	Esophagus	oesophagus
22	chr7:98029000-98030800	Active TSS	Hela-S3	cervix
23	chr7:98029000-98031000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr7:98029200-98030600	Active TSS	Right Ventricle	heart
25	chr7:98029200-98030600	Active TSS	Small Intestine	intestine
26	chr7:98029200-98030800	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr7:98029200-98031000	Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr7:98029400-98030600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr7:98029400-98030600	Active TSS	Pancreas	Pancrea
30	chr7:98029400-98030800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr7:98029400-98030800	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:98029400-98030800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr7:98029400-98030800	Active TSS	NHLF	lung
34	chr7:98029400-98031000	Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr7:98029400-98031000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr7:98029400-98031000	Enhancers	Fetal Heart	heart
37	chr7:98029600-98030600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr7:98029600-98030600	Active TSS	Muscle Satellite Cultured Cells	--
39	chr7:98029600-98030600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr7:98029600-98030600	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
41	chr7:98029600-98030600	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
42	chr7:98029600-98030600	Active TSS	Fetal Muscle Leg	muscle
43	chr7:98029600-98030600	Active TSS	Left Ventricle	heart
44	chr7:98029600-98030600	Active TSS	GM12878-XiMat	blood
45	chr7:98029600-98030800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr7:98029600-98030800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr7:98029600-98030800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr7:98029600-98030800	Active TSS	Duodenum Smooth Muscle	Duodenum
49	chr7:98029600-98030800	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
50	chr7:98029600-98030800	Active TSS	Osteobl	bone

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