Variant report

Variant	rs547874060
Chromosome Location	chr7:112430727-112430728
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:239)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:239 , 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	POLR2A	chr7:112429717-112431044	GM12891	blood:	n/a	n/a
2	BCLAF1	chr7:112429746-112431067	GM12878	blood:	n/a	n/a
3	MAX	chr7:112429713-112430810	A549	lung:	n/a	n/a
4	POLR2A	chr7:112429800-112430883	GM19193	blood:	n/a	n/a
5	TEAD4	chr7:112429385-112431031	K562	blood:	n/a	n/a
6	POU2F2	chr7:112430143-112430847	GM12878	blood:	n/a	chr7:112430508-112430520
7	POLR2A	chr7:112429805-112430748	HCT-116	colon:	n/a	n/a
8	FOXA2	chr7:112430223-112430832	A549	lung:	n/a	n/a
9	NFIC	chr7:112430045-112431091	GM12878	blood:	n/a	n/a
10	MTA3	chr7:112429570-112431084	GM12878	blood:	n/a	n/a
11	RELA	chr7:112429836-112430951	GM15510	blood:	n/a	n/a
12	POLR2A	chr7:112429824-112430795	ECC-1	luminal epithelium:	n/a	n/a
13	REST	chr7:112429863-112430765	A549	lung:	n/a	n/a
14	UBTF	chr7:112429803-112430873	K562	blood:	n/a	n/a
15	CBX3	chr7:112429526-112430956	K562	blood:	n/a	n/a
16	EP300	chr7:112430693-112431015	GM12878	blood:	n/a	n/a
17	POLR2A	chr7:112429529-112430874	K562	blood:	n/a	n/a
18	MAX	chr7:112429719-112430844	HepG2	liver:	n/a	n/a
19	MAX	chr7:112429708-112430875	K562	blood:	n/a	n/a
20	MAX	chr7:112429833-112430745	K562	blood:	n/a	n/a
21	POLR2A	chr7:112429746-112430941	GM12878	blood:	n/a	n/a
22	CHD1	chr7:112429717-112430944	GM12878	blood:	n/a	n/a
23	MAFK	chr7:112429766-112430944	K562	blood:	n/a	n/a
24	POU2F2	chr7:112429751-112431021	GM12878	blood:	n/a	chr7:112430508-112430520
25	POLR2A	chr7:112429667-112431051	GM12878	blood:	n/a	n/a
26	RFX5	chr7:112430236-112430912	GM12878	blood:	n/a	n/a
27	ZBTB7A	chr7:112430267-112430740	K562	blood:	n/a	chr7:112430658-112430669
28	YY1	chr7:112429579-112430893	SK-N-SH	brain:	n/a	chr7:112430420-112430442 chr7:112430420-112430430 chr7:112430422-112430431
29	TCF12	chr7:112429928-112430771	ECC-1	luminal epithelium:	n/a	n/a
30	POLR2A	chr7:112429808-112430861	GM12878	blood:	n/a	n/a
31	POLR2A	chr7:112429817-112430780	K562	blood:	n/a	n/a
32	POLR2A	chr7:112429809-112430732	H1-neurons	neurons:	n/a	n/a
33	SETDB1	chr7:112429833-112430736	K562	blood:	n/a	n/a
34	HMGN3	chr7:112429907-112430744	K562	blood:	n/a	n/a
35	HA-E2F1	chr7:112429849-112430734	Hela-S3	cervix:	n/a	chr7:112430528-112430537
36	YY1	chr7:112429853-112430782	HepG2	liver:	n/a	chr7:112430420-112430442 chr7:112430420-112430430 chr7:112430422-112430431
37	E2F6	chr7:112429956-112430739	A549	lung:	n/a	chr7:112430528-112430537
38	BACH1	chr7:112430437-112430748	H1-hESC	embryonic stem cell:	n/a	n/a
39	MAX	chr7:112429714-112430908	K562	blood:	n/a	n/a
40	POLR2A	chr7:112429650-112430795	U87	brain:	n/a	n/a
41	RELA	chr7:112429780-112430948	GM19099	blood:	n/a	n/a
42	SP1	chr7:112429799-112430797	A549	lung:	n/a	chr7:112430507-112430519 chr7:112430507-112430519 chr7:112430509-112430518 chr7:112430501-112430513 chr7:112430501-112430513
43	POLR2A	chr7:112429779-112430778	HCT-116	colon:	n/a	n/a
44	POLR2A	chr7:112429633-112432379	HepG2	liver:	n/a	n/a
45	SIN3A	chr7:112429764-112430873	H1-hESC	embryonic stem cell:	n/a	n/a
46	BCLAF1	chr7:112430025-112430983	GM12878	blood:	n/a	n/a
47	STAT5A	chr7:112429788-112430957	GM12878	blood:	n/a	chr7:112430509-112430521
48	POLR2A	chr7:112429842-112430907	GM12878	blood:	n/a	n/a
49	MAX	chr7:112429714-112431012	ECC-1	luminal epithelium:	n/a	n/a
50	POLR2A	chr7:112428826-112431111	MCF10A-Er-Src	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:112430707-112430757	BE2_C	brain:	n/a
2	chr7:112430707-112430757	RPTEC	kidney:	n/a
3	chr7:112430707-112430757	A549	lung:	n/a
4	chr7:112430707-112430757	AG10803	skin:	n/a
5	chr7:112430707-112430757	AG09319	gingival:	n/a
6	chr7:112430707-112430757	K562	blood:	n/a
7	chr7:112430707-112430757	HIPEpiC	eye:	n/a
8	chr7:112430707-112430757	AG09309	skin:	n/a
9	chr7:112430707-112430757	HCPEpiC	choroid plexus:	n/a
10	chr7:112430707-112430757	NB4	blood:	n/a
11	chr7:112430707-112430757	SAEC	small airway:	n/a
12	chr7:112430707-112430757	Caco-2	colon:	n/a
13	chr7:112430707-112430757	Jurkat	blood:	n/a
14	chr7:112430707-112430757	IMR90	lung:	fetal
15	chr7:112430707-112430757	CMK	blood:	n/a
16	chr7:112430707-112430757	NT2-D1	testis:	n/a
17	chr7:112430707-112430757	HRCEpiC	kidney:	n/a
18	chr7:112430707-112430757	Hela-S3	cervix:	n/a
19	chr7:112430707-112430757	PFSK-1	brain:	n/a
20	chr7:112430707-112430757	HMEC	breast:	n/a
21	chr7:112430707-112430757	ProgFib	skin:	n/a
22	chr7:112430707-112430757	NHBE	bronchial:	n/a
23	chr7:112430707-112430757	ovcar-3	ovarian:	n/a
24	chr7:112430707-112430757	U87	brain:	n/a
25	chr7:112430707-112430757	HRPEpiC	eye:	n/a
26	chr7:112430707-112430757	AoSMC	blood vessel:	n/a
27	chr7:112430707-112430757	BJ	skin:	n/a
28	chr7:112430707-112430757	H1-hESC	embryonic stem cell:	embryo
29	chr7:112430707-112430757	GM12878	blood:	n/a
30	chr7:112430707-112430757	PrEC	prostate:	n/a
31	chr7:112430707-112430757	NHDF-neo	bronchial:	n/a
32	chr7:112430707-112430757	GM06990	blood:	n/a
33	chr7:112430707-112430757	SK-N-SH_RA	brain:	n/a
34	chr7:112430707-112430757	GM12892	blood:	n/a
35	chr7:112430707-112430757	HPAEpiC	pulmonary alveolar:	n/a
36	chr7:112430707-112430757	GM19239	blood:	n/a
37	chr7:112430707-112430757	HCT-116	colon:	n/a
38	chr7:112430707-112430757	HUVEC	blood vessel:	n/a
39	chr7:112430707-112430757	HepG2	liver:	n/a
40	chr7:112430707-112430757	HAEpiC	amniotic membrane:	n/a
41	chr7:112430707-112430757	AG04450	lung:	fetal
42	chr7:112430707-112430757	SKMC	muscle:	n/a
43	chr7:112430707-112430757	MCF10A-Er-Src	breast:	n/a
44	chr7:112430707-112430757	SK-N-SH	brain:	n/a
45	chr7:112430707-112430757	ECC-1	luminal epithelium:	n/a
46	chr7:112430707-112430757	LNCaP	prostate:	n/a
47	chr7:112430707-112430757	Hepatocyte	liver:	n/a
48	chr7:112430707-112430757	HCM	heart:	n/a
49	chr7:112430707-112430757	PANC-1	pancreas:	n/a
50	chr7:112430707-112430757	HNPCEpiC	eye:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:112088410..112092985-chr7:112428999..112431698,4	K562	blood:
2	chr7:112421571..112428519-chr7:112428661..112431818,11	MCF-7	breast:
3	chr7:112421681..112427261-chr7:112427948..112432124,6	MCF-7	breast:
4	chr7:112089239..112091876-chr7:112428390..112433191,6	K562	blood:

No data

Variant related genes	Relation type
TMEM168	TF binding region
TMEM168	CpG island
ENSG00000146802	Chromatin interaction
ENSG00000006652	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
2	esv2752144	chr7:112398372-112499924	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	esv1794529	chr7:112400060-112588376	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv967494	chr7:112430613-112445931	Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 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	chr7:112428600-112431200	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr7:112428800-112430800	Active TSS	Aorta	Aorta
3	chr7:112428800-112430800	Active TSS	Hela-S3	cervix
4	chr7:112428800-112431000	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr7:112428800-112431000	Active TSS	H9 Cell Line	embryonic stem cell
6	chr7:112428800-112431000	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr7:112428800-112431000	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr7:112428800-112431000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr7:112428800-112431000	Active TSS	Left Ventricle	heart
10	chr7:112429000-112430800	Active TSS	A549	lung
11	chr7:112429000-112430800	Active TSS	HSMMtube	muscle
12	chr7:112429000-112431000	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr7:112429000-112431000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr7:112429000-112431000	Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr7:112429000-112431200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr7:112429200-112430800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr7:112429200-112430800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr7:112429200-112430800	Active TSS	Ovary	ovary
19	chr7:112429200-112431000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:112429200-112431000	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr7:112429200-112431000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr7:112429200-112431000	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr7:112429200-112431000	Active TSS	Colonic Mucosa	Colon
24	chr7:112429200-112431000	Active TSS	Fetal Intestine Small	intestine
25	chr7:112429200-112431000	Active TSS	Fetal Kidney	kidney
26	chr7:112429200-112431000	Active TSS	Fetal Muscle Trunk	muscle
27	chr7:112429200-112431000	Active TSS	Rectal Smooth Muscle	rectum
28	chr7:112429200-112431000	Active TSS	HMEC	breast
29	chr7:112429200-112431000	Active TSS	HSMM	muscle
30	chr7:112429200-112431000	Active TSS	NHLF	lung
31	chr7:112429400-112430800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr7:112429400-112430800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
33	chr7:112429400-112430800	Active TSS	Brain Hippocampus Middle	brain
34	chr7:112429400-112430800	Active TSS	Fetal Heart	heart
35	chr7:112429400-112430800	Active TSS	Placenta Amnion	Placenta Amnion
36	chr7:112429400-112431000	Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr7:112429400-112431000	Active TSS	Liver	Liver
38	chr7:112429400-112431000	Active TSS	Brain Angular Gyrus	brain
39	chr7:112429400-112431000	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr7:112429400-112431000	Active TSS	Placenta	Placenta
41	chr7:112429400-112431000	Active TSS	Psoas Muscle	Psoas
42	chr7:112429400-112431000	Active TSS	Right Atrium	heart
43	chr7:112429400-112431000	Active TSS	Right Ventricle	heart
44	chr7:112429400-112431400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr7:112429600-112430800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr7:112429600-112430800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:112429600-112430800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr7:112429600-112430800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr7:112429600-112430800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
50	chr7:112429600-112430800	Active TSS	Gastric	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links