Variant report

Variant	rs566545474
Chromosome Location	chr7:26438327-26438328
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:175)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:175 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POU2F2	chr7:26438143-26439095	GM12878	blood:	n/a	n/a
2	E2F6	chr7:26437596-26438809	K562	blood:	n/a	n/a
3	MYC	chr7:26437596-26439124	NB4	blood:	n/a	chr7:26437959-26437969 chr7:26437752-26437761
4	EP300	chr7:26438144-26439046	GM12878	blood:	n/a	n/a
5	GATA2	chr7:26437331-26439435	SH-SY5Y	brain:	n/a	chr7:26437759-26437767
6	MAX	chr7:26438305-26439177	MCF-7	breast:	n/a	n/a
7	MAX	chr7:26437585-26439122	K562	blood:	n/a	chr7:26437959-26437969 chr7:26437752-26437761
8	POLR2A	chr7:26438323-26438668	GM12878	blood:	n/a	n/a
9	POLR2A	chr7:26437691-26438690	HEK293	kidney:	n/a	n/a
10	TAF1	chr7:26438187-26439095	H1-neurons	neurons:	n/a	n/a
11	CHD2	chr7:26438322-26438478	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr7:26437683-26438786	A549	lung:	n/a	n/a
13	MAX	chr7:26437959-26439171	ECC-1	luminal epithelium:	n/a	chr7:26437959-26437969
14	POLR2A	chr7:26437786-26439075	K562	blood:	n/a	n/a
15	ZEB1	chr7:26437782-26439122	GM12878	blood:	n/a	n/a
16	MEF2A	chr7:26438279-26439068	GM12878	blood:	n/a	n/a
17	MAX	chr7:26437493-26439166	K562	blood:	n/a	chr7:26437959-26437969 chr7:26437752-26437761
18	ELF1	chr7:26437502-26439142	GM12878	blood:	n/a	chr7:26437841-26437853
19	POLR2A	chr7:26437950-26438706	K562	blood:	n/a	n/a
20	HA-E2F1	chr7:26438009-26438776	Hela-S3	cervix:	n/a	n/a
21	CHD2	chr7:26438112-26439032	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr7:26437709-26438758	K562	blood:	n/a	n/a
23	E2F6	chr7:26438149-26439243	A549	lung:	n/a	n/a
24	MYC	chr7:26437454-26439222	K562	blood:	n/a	chr7:26437959-26437969 chr7:26437752-26437761
25	YY1	chr7:26437634-26439040	GM12878	blood:	n/a	chr7:26438684-26438693 chr7:26437841-26437855
26	POLR2A	chr7:26438061-26438468	HCT-116	colon:	n/a	n/a
27	POLR2A	chr7:26438048-26438386	HCT-116	colon:	n/a	n/a
28	POLR2A	chr7:26437895-26438382	GM12891	blood:	n/a	n/a
29	JUND	chr7:26437865-26439107	K562	blood:	n/a	n/a
30	EBF1	chr7:26437982-26439054	GM12878	blood:	n/a	chr7:26438728-26438738 chr7:26438727-26438738
31	E2F6	chr7:26437470-26439230	H1-hESC	embryonic stem cell:	n/a	n/a
32	EGR1	chr7:26437975-26438871	K562	blood:	n/a	chr7:26438118-26438128
33	RCOR1	chr7:26437866-26439292	GM12878	blood:	n/a	n/a
34	E2F4	chr7:26438042-26438945	K562	blood:	n/a	n/a
35	POLR2A	chr7:26437709-26439218	HL-60	blood:	n/a	n/a
36	POLR2A	chr7:26437571-26439406	HUVEC	blood vessel:	n/a	n/a
37	YY1	chr7:26438052-26438500	GM12891	blood:	n/a	n/a
38	NRF1	chr7:26437955-26438691	GM12878	blood:	n/a	n/a
39	POLR2A	chr7:26437618-26439118	GM19099	blood:	n/a	n/a
40	RCOR1	chr7:26437517-26439173	K562	blood:	n/a	n/a
41	PML	chr7:26437402-26439224	GM12878	blood:	n/a	n/a
42	MAX	chr7:26438126-26439157	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr7:26438019-26438717	K562	blood:	n/a	n/a
44	POLR2A	chr7:26437571-26438893	GM12878	blood:	n/a	n/a
45	PAX5	chr7:26438047-26438794	GM12892	blood:	n/a	n/a
46	MAZ	chr7:26438211-26439120	Hela-S3	cervix:	n/a	n/a
47	JUND	chr7:26438221-26439004	H1-hESC	embryonic stem cell:	n/a	n/a
48	TCF3	chr7:26438324-26439109	GM12878	blood:	n/a	chr7:26438652-26438661
49	TAF1	chr7:26438004-26439158	H1-neurons	neurons:	n/a	n/a
50	POLR2A	chr7:26437588-26438986	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:26438304-26438354	AG04450	lung:	fetal
2	chr7:26438304-26438354	H1-hESC	embryonic stem cell:	embryo
3	chr7:26438304-26438354	HRE	kidney:	n/a
4	chr7:26438304-26438354	HEEpiC	esophagus:	n/a
5	chr7:26438304-26438354	ECC-1	luminal epithelium:	n/a
6	chr7:26438304-26438354	HCT-116	colon:	n/a
7	chr7:26438304-26438354	ProgFib	skin:	n/a
8	chr7:26438304-26438354	SKMC	muscle:	n/a
9	chr7:26438304-26438354	HepG2	liver:	n/a
10	chr7:26438304-26438354	T-47D	breast:	n/a
11	chr7:26438304-26438354	AG09319	gingival:	n/a
12	chr7:26438304-26438354	Caco-2	colon:	n/a
13	chr7:26438304-26438354	HRPEpiC	eye:	n/a
14	chr7:26438304-26438354	HCF	heart:	n/a
15	chr7:26438304-26438354	SK-N-SH_RA	brain:	n/a
16	chr7:26438304-26438354	AG09309	skin:	n/a
17	chr7:26438304-26438354	LNCaP	prostate:	n/a
18	chr7:26438304-26438354	MCF-7	breast:	n/a
19	chr7:26438304-26438354	NH-A	brain:	n/a
20	chr7:26438304-26438354	GM12892	blood:	n/a
21	chr7:26438304-26438354	NB4	blood:	n/a
22	chr7:26438304-26438354	HAEpiC	amniotic membrane:	n/a
23	chr7:26438304-26438354	AG04449	skin:	fetal
24	chr7:26438304-26438354	NT2-D1	testis:	n/a
25	chr7:26438304-26438354	GM12891	blood:	n/a
26	chr7:26438304-26438354	CMK	blood:	n/a
27	chr7:26438304-26438354	HIPEpiC	eye:	n/a
28	chr7:26438304-26438354	BJ	skin:	n/a
29	chr7:26438304-26438354	PrEC	prostate:	n/a
30	chr7:26438304-26438354	SAEC	small airway:	n/a
31	chr7:26438304-26438354	SK-N-SH	brain:	n/a
32	chr7:26438304-26438354	Hela-S3	cervix:	n/a
33	chr7:26438304-26438354	Hepatocyte	liver:	n/a
34	chr7:26438304-26438354	AG10803	skin:	n/a
35	chr7:26438304-26438354	HMEC	breast:	n/a
36	chr7:26438304-26438354	NHDF-neo	bronchial:	n/a
37	chr7:26438304-26438354	SK-N-MC	brain:	n/a
38	chr7:26438304-26438354	RPTEC	kidney:	n/a
39	chr7:26438304-26438354	IMR90	lung:	fetal
40	chr7:26438304-26438354	NHBE	bronchial:	n/a
41	chr7:26438304-26438354	GM19239	blood:	n/a
42	chr7:26438304-26438354	PANC-1	pancreas:	n/a
43	chr7:26438304-26438354	HPAEpiC	pulmonary alveolar:	n/a
44	chr7:26438304-26438354	HRCEpiC	kidney:	n/a
45	chr7:26438304-26438354	K562	blood:	n/a
46	chr7:26438304-26438354	HL-60	blood:	n/a
47	chr7:26438304-26438354	A549	lung:	n/a
48	chr7:26438304-26438354	ovcar-3	ovarian:	n/a
49	chr7:26438304-26438354	PFSK-1	brain:	n/a
50	chr7:26438304-26438354	MCF10A-Er-Src	breast:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SNX10-2	chr7:26438272-26438358	ENSG00000214870

No data

Variant related genes	Relation type
ENSG00000214870	TF binding region
ENSG00000214870	CpG island

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029596	chr7:26302739-26737913	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv538804	chr7:26302739-26737913	Strong transcription Weak transcription Flanking Active TSS Enhancers 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	25 gene(s)	inside rSNPs	diseases
3	esv3374116	chr7:26436952-26439800	Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26436000-26438600	Enhancers	Fetal Brain Male	brain
2	chr7:26437200-26439400	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr7:26437400-26438400	Flanking Active TSS	Primary B cells from cord blood	blood
4	chr7:26437400-26438600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:26437400-26438600	Active TSS	Osteobl	bone
6	chr7:26437400-26438800	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr7:26437400-26439000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr7:26437400-26439000	Active TSS	Psoas Muscle	Psoas
9	chr7:26437400-26439400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr7:26437400-26439600	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr7:26437600-26438400	Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr7:26437600-26438600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr7:26437600-26438600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:26437600-26438600	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr7:26437600-26438600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:26437600-26438600	Active TSS	Primary hematopoietic stem cells	blood
17	chr7:26437600-26438600	Bivalent/Poised TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr7:26437600-26438600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr7:26437600-26438600	Active TSS	Aorta	Aorta
20	chr7:26437600-26438600	Active TSS	Gastric	stomach
21	chr7:26437600-26438800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr7:26437600-26438800	Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr7:26437600-26438800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
24	chr7:26437600-26438800	Active TSS	Brain Angular Gyrus	brain
25	chr7:26437600-26438800	Active TSS	Brain Anterior Caudate	brain
26	chr7:26437600-26438800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
27	chr7:26437600-26438800	Active TSS	Brain Substantia Nigra	brain
28	chr7:26437600-26438800	Active TSS	Rectal Smooth Muscle	rectum
29	chr7:26437600-26438800	Active TSS	A549	lung
30	chr7:26437600-26438800	Active TSS	Hela-S3	cervix
31	chr7:26437600-26438800	Active TSS	HSMMtube	muscle
32	chr7:26437600-26439000	Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr7:26437600-26439000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr7:26437600-26439000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr7:26437600-26439000	Flanking Active TSS	HMEC	breast
36	chr7:26437600-26439200	Active TSS	H9 Cell Line	embryonic stem cell
37	chr7:26437600-26439200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr7:26437600-26439200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr7:26437600-26439200	Flanking Active TSS	Liver	Liver
40	chr7:26437600-26439200	Active TSS	HSMM	muscle
41	chr7:26437600-26439400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr7:26437600-26439400	Active TSS	HUES64 Cell Line	embryonic stem cell
43	chr7:26437800-26438600	Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr7:26437800-26438600	Active TSS	Primary B cells from peripheral blood	blood
45	chr7:26437800-26438600	Active TSS	Primary T cells from cord blood	blood
46	chr7:26437800-26438600	Bivalent/Poised TSS	Primary T killer naive cells fromperipheralblood	blood
47	chr7:26437800-26438600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr7:26437800-26438600	Active TSS	Brain Cingulate Gyrus	brain
49	chr7:26437800-26438600	Active TSS	Fetal Stomach	stomach
50	chr7:26437800-26438600	Active TSS	Left Ventricle	heart

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