Variant report

Variant	rs79873712
Chromosome Location	chr7:26437042-26437043
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF1	chr7:26437019-26437225	HepG2	liver:	n/a	chr7:26437136-26437147
2	USF1	chr7:26436976-26437221	K562	blood:	n/a	chr7:26437136-26437147
3	USF1	chr7:26436938-26437220	SK-N-SH_RA	brain:	n/a	chr7:26437136-26437147
4	USF1	chr7:26436885-26437222	H1-hESC	embryonic stem cell:	n/a	chr7:26437136-26437147
5	USF2	chr7:26436961-26437223	H1-hESC	embryonic stem cell:	n/a	n/a
6	USF1	chr7:26436943-26437217	H1-hESC	embryonic stem cell:	n/a	chr7:26437136-26437147
7	USF1	chr7:26437009-26437213	SK-N-SH_RA	brain:	n/a	chr7:26437136-26437147

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:26437002-26437052	AG09309	skin:	n/a
2	chr7:26437002-26437052	GM12891	blood:	n/a
3	chr7:26437002-26437052	HIPEpiC	eye:	n/a
4	chr7:26437002-26437052	HEEpiC	esophagus:	n/a
5	chr7:26437002-26437052	A549	lung:	n/a
6	chr7:26437002-26437052	MCF10A-Er-Src	breast:	n/a
7	chr7:26437002-26437052	K562	blood:	n/a
8	chr7:26437002-26437052	HPAEpiC	pulmonary alveolar:	n/a
9	chr7:26437002-26437052	GM12878	blood:	n/a
10	chr7:26437002-26437052	SK-N-SH	brain:	n/a
11	chr7:26437002-26437052	GM19239	blood:	n/a
12	chr7:26437002-26437052	AG09319	gingival:	n/a
13	chr7:26437002-26437052	Caco-2	colon:	n/a
14	chr7:26437002-26437052	HCF	heart:	n/a
15	chr7:26437002-26437052	HepG2	liver:	n/a
16	chr7:26437002-26437052	PFSK-1	brain:	n/a
17	chr7:26437002-26437052	RPTEC	kidney:	n/a
18	chr7:26437002-26437052	H1-hESC	embryonic stem cell:	embryo
19	chr7:26437002-26437052	CMK	blood:	n/a
20	chr7:26437002-26437052	AoSMC	blood vessel:	n/a
21	chr7:26437002-26437052	SK-N-MC	brain:	n/a
22	chr7:26437002-26437052	ECC-1	luminal epithelium:	n/a
23	chr7:26437002-26437052	HCT-116	colon:	n/a
24	chr7:26437002-26437052	LNCaP	prostate:	n/a
25	chr7:26437002-26437052	T-47D	breast:	n/a
26	chr7:26437002-26437052	AG04449	skin:	fetal
27	chr7:26437002-26437052	HEK293	kidney:	embryo
28	chr7:26437002-26437052	BE2_C	brain:	n/a
29	chr7:26437002-26437052	GM06990	blood:	n/a
30	chr7:26437002-26437052	HUVEC	blood vessel:	n/a
31	chr7:26437002-26437052	GM12892	blood:	n/a
32	chr7:26437002-26437052	AG10803	skin:	n/a
33	chr7:26437002-26437052	PANC-1	pancreas:	n/a
34	chr7:26437002-26437052	SK-N-SH_RA	brain:	n/a
35	chr7:26437002-26437052	SAEC	small airway:	n/a
36	chr7:26437002-26437052	HNPCEpiC	eye:	n/a
37	chr7:26437002-26437052	PrEC	prostate:	n/a
38	chr7:26437002-26437052	ProgFib	skin:	n/a
39	chr7:26437002-26437052	IMR90	lung:	fetal
40	chr7:26437002-26437052	MCF-7	breast:	n/a
41	chr7:26437002-26437052	HRE	kidney:	n/a
42	chr7:26437002-26437052	HMEC	breast:	n/a
43	chr7:26437002-26437052	NB4	blood:	n/a
44	chr7:26437002-26437052	HRCEpiC	kidney:	n/a
45	chr7:26437002-26437052	HAEpiC	amniotic membrane:	n/a
46	chr7:26437002-26437052	NHDF-neo	bronchial:	n/a
47	chr7:26437002-26437052	Jurkat	blood:	n/a
48	chr7:26437002-26437052	Hela-S3	cervix:	n/a
49	chr7:26437002-26437052	HCPEpiC	choroid plexus:	n/a
50	chr7:26437002-26437052	HL-60	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:26435194..26437360-chr7:26480063..26481898,2	K562	blood:

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:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26428200-26437400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr7:26430200-26437200	Weak transcription	Brain Germinal Matrix	brain
3	chr7:26434000-26437600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:26435800-26437600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr7:26436000-26437400	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr7:26436000-26438600	Enhancers	Fetal Brain Male	brain
7	chr7:26436400-26437400	Enhancers	Fetal Kidney	kidney
8	chr7:26436400-26437600	Enhancers	Fetal Brain Female	brain
9	chr7:26436600-26437400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
10	chr7:26436600-26437400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
11	chr7:26436600-26437400	Enhancers	Fetal Lung	lung
12	chr7:26436600-26437400	Enhancers	Fetal Muscle Leg	muscle
13	chr7:26436600-26437400	Enhancers	Fetal Stomach	stomach
14	chr7:26436600-26437400	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr7:26436600-26437600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:26436600-26437600	Enhancers	Primary B cells from peripheral blood	blood
17	chr7:26436600-26437800	Enhancers	Spleen	Spleen
18	chr7:26436800-26437200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:26436800-26437200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
20	chr7:26436800-26437200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
21	chr7:26436800-26437400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr7:26436800-26437400	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr7:26436800-26437400	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr7:26436800-26437400	Enhancers	Adipose Nuclei	Adipose
25	chr7:26436800-26437400	Enhancers	Colon Smooth Muscle	Colon
26	chr7:26436800-26437600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr7:26437000-26437200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr7:26437000-26437400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
29	chr7:26437000-26437400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr7:26437000-26437400	Enhancers	Colonic Mucosa	Colon
31	chr7:26437000-26437400	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr7:26437000-26437400	Enhancers	Fetal Intestine Large	intestine
33	chr7:26437000-26437400	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr7:26437000-26437400	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr7:26437000-26437600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:26437000-26437600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr7:26437000-26437600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr7:26437000-26437600	Enhancers	Fetal Intestine Small	intestine
39	chr7:26437000-26437600	Enhancers	Placenta	Placenta
40	chr7:26437000-26437800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
41	chr7:26437000-26438000	Enhancers	Fetal Heart	heart

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