Variant report

Variant	rs371563257
Chromosome Location	chr7:100423987-100423988
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:45)
CpG islands
(count:61)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:45 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr7:100422794-100425971	K562	blood:	n/a	chr7:100424953-100424963 chr7:100424987-100424997
2	MAX	chr7:100422691-100425951	MCF-7	breast:	n/a	chr7:100424953-100424963 chr7:100424987-100424997
3	CTCF	chr7:100423513-100424058	MCF-7	breast:	n/a	chr7:100424039-100424052
4	TEAD4	chr7:100423088-100424235	K562	blood:	n/a	n/a
5	RAD21	chr7:100422224-100424797	SK-N-SH	brain:	n/a	chr7:100423965-100423978
6	SIN3A	chr7:100423620-100425862	H1-hESC	embryonic stem cell:	n/a	chr7:100424058-100424069 chr7:100425437-100425450
7	RAD21	chr7:100423468-100424074	A549	lung:	n/a	chr7:100423965-100423978
8	RAD21	chr7:100423569-100424004	ECC-1	luminal epithelium:	n/a	chr7:100423965-100423978
9	RAD21	chr7:100423523-100423999	HepG2	liver:	n/a	chr7:100423965-100423978
10	CTCF	chr7:100423530-100424002	A549	lung:	n/a	n/a
11	JUN	chr7:100422826-100426015	K562	blood:	n/a	n/a
12	MXI1	chr7:100422162-100426238	IMR90	lung:	n/a	n/a
13	POLR2A	chr7:100423248-100424040	PFSK-1	brain:	n/a	n/a
14	CTCF	chr7:100423578-100424002	K562	blood:	n/a	n/a
15	CTCF	chr7:100423467-100424103	MCF-7	breast:	n/a	chr7:100424039-100424052
16	SIN3AK20	chr7:100423958-100424539	H1-hESC	embryonic stem cell:	n/a	n/a
17	EGR1	chr7:100423651-100424172	K562	blood:	n/a	n/a
18	POLR2A	chr7:100423933-100424166	Hela-S3	cervix:	n/a	n/a
19	CTCF	chr7:100422524-100425952	SK-N-SH	brain:	n/a	chr7:100425569-100425590 chr7:100424947-100424956 chr7:100424800-100424813 chr7:100425592-100425613 chr7:100425599-100425612 chr7:100425602-100425610 chr7:100424039-100424052 chr7:100425597-100425615
20	RAD21	chr7:100423361-100424093	HCT-116	colon:	n/a	chr7:100423965-100423978
21	CTCF	chr7:100423920-100424070	A549	lung:	n/a	chr7:100424039-100424052
22	RAD21	chr7:100423531-100424103	MCF-7	breast:	n/a	chr7:100423965-100423978
23	TCF12	chr7:100423609-100424351	A549	lung:	n/a	n/a
24	POLR2A	chr7:100422982-100423989	PANC-1	pancreas:	n/a	n/a
25	CTCF	chr7:100423592-100424098	K562	blood:	n/a	chr7:100424039-100424052
26	RAD21	chr7:100423394-100424041	MCF-7	breast:	n/a	chr7:100423965-100423978
27	MYBL2	chr7:100423543-100424014	HepG2	liver:	n/a	n/a
28	POLR2A	chr7:100423565-100425956	HUVEC	blood vessel:	n/a	n/a
29	POLR2A	chr7:100422235-100427552	HUVEC	blood vessel:	n/a	n/a
30	SIN3AK20	chr7:100422470-100426001	MCF-7	breast:	n/a	n/a
31	NR2F2	chr7:100423113-100424459	K562	blood:	n/a	n/a
32	CTCF	chr7:100423593-100423995	K562	blood:	n/a	n/a
33	SIN3AK20	chr7:100422962-100424121	K562	blood:	n/a	n/a
34	RAD21	chr7:100423542-100423988	H1-hESC	embryonic stem cell:	n/a	chr7:100423965-100423978
35	POLR2A	chr7:100423682-100427339	K562	blood:	n/a	n/a
36	CTCF	chr7:100423980-100424130	K562	blood:	n/a	chr7:100424039-100424052
37	SMC3	chr7:100422082-100425966	SK-N-SH	brain:	n/a	chr7:100425461-100425475 chr7:100425599-100425613 chr7:100423470-100423478 chr7:100423840-100423848 chr7:100423796-100423804
38	MAFK	chr7:100423737-100424041	Hela-S3	cervix:	n/a	n/a
39	CTCF	chr7:100423377-100424830	A549	lung:	n/a	chr7:100424800-100424813 chr7:100424039-100424052
40	ZBTB7A	chr7:100423662-100424254	K562	blood:	n/a	n/a
41	MXI1	chr7:100421736-100424014	SK-N-SH	brain:	n/a	n/a
42	POLR2A	chr7:100422030-100424812	SK-N-MC	brain:	n/a	n/a
43	MAZ	chr7:100422949-100425857	IMR90	lung:	n/a	chr7:100424953-100424963 chr7:100424987-100424997
44	PML	chr7:100423432-100424201	K562	blood:	n/a	n/a
45	UBTF	chr7:100423084-100425834	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:100423987-100424037	Hepatocyte	liver:	n/a
2	chr7:100423987-100424037	HepG2	liver:	n/a
3	chr7:100423987-100424037	SK-N-SH	brain:	n/a
4	chr7:100423987-100424037	PFSK-1	brain:	n/a
5	chr7:100423987-100424037	AoSMC	blood vessel:	n/a
6	chr7:100423987-100424037	HNPCEpiC	eye:	n/a
7	chr7:100423987-100424037	K562	blood:	n/a
8	chr7:100423987-100424037	HCT-116	colon:	n/a
9	chr7:100423987-100424037	NHBE	bronchial:	n/a
10	chr7:100423987-100424037	BE2_C	brain:	n/a
11	chr7:100423987-100424037	NB4	blood:	n/a
12	chr7:100423987-100424037	NH-A	brain:	n/a
13	chr7:100423987-100424037	LNCaP	prostate:	n/a
14	chr7:100423987-100424037	HEK293	kidney:	embryo
15	chr7:100423987-100424037	SK-N-MC	brain:	n/a
16	chr7:100423987-100424037	HCPEpiC	choroid plexus:	n/a
17	chr7:100423987-100424037	AG09309	skin:	n/a
18	chr7:100423987-100424037	MCF-7	breast:	n/a
19	chr7:100423987-100424037	H1-hESC	embryonic stem cell:	embryo
20	chr7:100423987-100424037	HAEpiC	amniotic membrane:	n/a
21	chr7:100423987-100424037	NHDF-neo	bronchial:	n/a
22	chr7:100423987-100424037	ECC-1	luminal epithelium:	n/a
23	chr7:100423987-100424037	GM19239	blood:	n/a
24	chr7:100423987-100424037	ProgFib	skin:	n/a
25	chr7:100423987-100424037	AG09319	gingival:	n/a
26	chr7:100423987-100424037	Hela-S3	cervix:	n/a
27	chr7:100423987-100424037	HEEpiC	esophagus:	n/a
28	chr7:100423987-100424037	RPTEC	kidney:	n/a
29	chr7:100423987-100424037	HL-60	blood:	n/a
30	chr7:100423987-100424037	HUVEC	blood vessel:	n/a
31	chr7:100423987-100424037	HCM	heart:	n/a
32	chr7:100423987-100424037	T-47D	breast:	n/a
33	chr7:100423987-100424037	HIPEpiC	eye:	n/a
34	chr7:100423987-100424037	HRE	kidney:	n/a
35	chr7:100423987-100424037	Caco-2	colon:	n/a
36	chr7:100423987-100424037	AG10803	skin:	n/a
37	chr7:100423987-100424037	GM12878	blood:	n/a
38	chr7:100423987-100424037	AG04450	lung:	fetal
39	chr7:100423987-100424037	SK-N-SH_RA	brain:	n/a
40	chr7:100423987-100424037	HRCEpiC	kidney:	n/a
41	chr7:100423987-100424037	HCF	heart:	n/a
42	chr7:100423987-100424037	PrEC	prostate:	n/a
43	chr7:100423987-100424037	MCF10A-Er-Src	breast:	n/a
44	chr7:100423987-100424037	SAEC	small airway:	n/a
45	chr7:100423987-100424037	BJ	skin:	n/a
46	chr7:100423987-100424037	HMEC	breast:	n/a
47	chr7:100423987-100424037	HPAEpiC	pulmonary alveolar:	n/a
48	chr7:100423987-100424037	Jurkat	blood:	n/a
49	chr7:100423987-100424037	GM12892	blood:	n/a
50	chr7:100423987-100424037	SKMC	muscle:	n/a

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:100397045..100397664-chr7:100423201..100424033,3	MCF-7	breast:
2	chr7:100422826..100425783-chr7:100447402..100452140,5	K562	blood:
3	chr7:100026299..100028984-chr7:100423719..100425446,2	MCF-7	breast:
4	chr7:100303807..100306073-chr7:100423703..100425515,2	MCF-7	breast:
5	chr7:100423752..100426266-chr7:100463292..100466439,3	MCF-7	breast:
6	chr7:100302193..100303928-chr7:100423782..100426431,2	K562	blood:
7	chr7:100422507..100426422-chr7:100448675..100454510,8	MCF-7	breast:
8	chr7:100421802..100424702-chr7:100482689..100484467,2	MCF-7	breast:
9	chr7:100423550..100425060-chr7:100485976..100488045,2	K562	blood:
10	chr7:100422507..100425208-chr7:100700393..100702455,2	MCF-7	breast:
11	chr7:100317495..100321039-chr7:100423744..100425687,3	MCF-7	breast:
12	chr7:100026028..100027729-chr7:100422435..100425262,2	MCF-7	breast:
13	chr7:100422126..100425537-chr7:100471170..100475559,4	MCF-7	breast:
14	chr7:100317734..100318502-chr7:100423320..100424248,2	MCF-7	breast:
15	chr7:100223251..100225945-chr7:100423491..100425881,2	MCF-7	breast:
16	chr7:100410343..100413835-chr7:100422249..100426210,7	MCF-7	breast:
17	chr7:100423424..100426106-chr7:100484562..100490364,9	MCF-7	breast:
18	chr7:100396723..100397558-chr7:100423449..100424411,5	MCF-7	breast:
19	chr7:100208147..100211165-chr7:100422696..100426389,3	MCF-7	breast:
20	chr7:100301669..100305063-chr7:100423516..100428632,6	MCF-7	breast:
21	chr7:100423433..100426983-chr7:100448013..100452140,5	K562	blood:

No data

Variant related genes	Relation type
SLC12A9	TF binding region
EPHB4	TF binding region
SLC12A9	CpG island
EPHB4	CpG island
ENSG00000146828	Chromatin interaction
ENSG00000106327	Chromatin interaction
ENSG00000106330	Chromatin interaction
ENSG00000236305	Chromatin interaction
ENSG00000196411	Chromatin interaction
ENSG00000087077	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000087087	Chromatin interaction
ENSG00000130427	Chromatin interaction
ENSG00000172336	Chromatin interaction
ENSG00000222636	Chromatin interaction
ENSG00000176125	Chromatin interaction
ENSG00000078487	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
2	nsv470381	chr7:100240191-100431980	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv1020837	chr7:100313122-100508635	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
4	esv1832517	chr7:100355490-100749246	Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
5	esv2758125	chr7:100355490-100749246	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
6	esv2759547	chr7:100355490-100749246	Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
7	nsv464647	chr7:100374087-100497131	Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
8	nsv607965	chr7:100374087-100497131	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
9	nsv1032673	chr7:100382250-100606794	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
10	nsv888797	chr7:100386900-100482026	Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
11	nsv888798	chr7:100406144-100472826	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
12	nsv888799	chr7:100406144-100497131	Enhancers Bivalent Enhancer Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
13	nsv888800	chr7:100411278-100436446	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
14	nsv888801	chr7:100416250-100497131	Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
15	nsv464648	chr7:100422156-100518458	Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
16	nsv607966	chr7:100422156-100518458	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
17	esv3441371	chr7:100423841-100426389	Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100421800-100424000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr7:100421800-100425000	Flanking Active TSS	Stomach Smooth Muscle	stomach
3	chr7:100422200-100424200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
4	chr7:100422200-100424600	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
5	chr7:100422200-100426400	Active TSS	Right Ventricle	heart
6	chr7:100422400-100424000	Flanking Active TSS	Colonic Mucosa	Colon
7	chr7:100422400-100424400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr7:100422400-100424400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
9	chr7:100422400-100424400	Flanking Active TSS	Fetal Muscle Leg	muscle
10	chr7:100422400-100425600	Active TSS	Lung	lung
11	chr7:100422400-100425800	Active TSS	Left Ventricle	heart
12	chr7:100422400-100426400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr7:100422400-100426400	Active TSS	Right Atrium	heart
14	chr7:100422600-100424200	Flanking Active TSS	Duodenum Mucosa	Duodenum
15	chr7:100422600-100424200	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
16	chr7:100422600-100424400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:100422600-100424400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr7:100422600-100424400	Flanking Active TSS	Brain Germinal Matrix	brain
19	chr7:100422600-100424800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
20	chr7:100422600-100426400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:100422800-100424000	Active TSS	Psoas Muscle	Psoas
22	chr7:100422800-100424000	Flanking Active TSS	NH-A	brain
23	chr7:100422800-100424200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr7:100422800-100424200	Flanking Active TSS	Colon Smooth Muscle	Colon
25	chr7:100422800-100424200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr7:100422800-100424200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
27	chr7:100422800-100424200	Transcr. at gene 5' and 3'	K562	blood
28	chr7:100422800-100424400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
29	chr7:100422800-100424400	Flanking Active TSS	Liver	Liver
30	chr7:100422800-100424600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
31	chr7:100422800-100424600	Flanking Active TSS	Fetal Muscle Trunk	muscle
32	chr7:100422800-100426400	Active TSS	Fetal Kidney	kidney
33	chr7:100422800-100427200	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr7:100423000-100424000	Bivalent/Poised TSS	Fetal Brain Male	brain
35	chr7:100423000-100424200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr7:100423000-100424200	Flanking Active TSS	A549	lung
37	chr7:100423000-100424400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr7:100423000-100424400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr7:100423000-100424400	Flanking Active TSS	Osteobl	bone
40	chr7:100423000-100424600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr7:100423000-100424600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr7:100423000-100425400	Active TSS	Small Intestine	intestine
43	chr7:100423000-100425400	Active TSS	HMEC	breast
44	chr7:100423000-100426200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr7:100423000-100426600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr7:100423200-100424000	Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr7:100423200-100424000	Flanking Active TSS	Placenta Amnion	Placenta Amnion
48	chr7:100423200-100424200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr7:100423200-100424200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr7:100423200-100424200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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