Variant report

Variant	rs78581407
Chromosome Location	chr7:65669763-65669764
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr7:65669662-65670554	HepG2	liver:	n/a	chr7:65669993-65670002 chr7:65670034-65670049 chr7:65670032-65670047
2	RAD21	chr7:65669681-65670886	H1-hESC	embryonic stem cell:	n/a	chr7:65670747-65670759 chr7:65670059-65670073
3	MAX	chr7:65669722-65670567	A549	lung:	n/a	chr7:65670022-65670031
4	RUNX3	chr7:65669647-65670625	GM12878	blood:	n/a	n/a
5	SIN3A	chr7:65669573-65671475	H1-hESC	embryonic stem cell:	n/a	n/a
6	SP1	chr7:65669540-65670711	HCT-116	colon:	n/a	chr7:65670635-65670644 chr7:65670691-65670705 chr7:65670136-65670148 chr7:65670137-65670146 chr7:65670635-65670645 chr7:65670136-65670148 chr7:65670685-65670695 chr7:65670138-65670147 chr7:65670635-65670645 chr7:65670634-65670646 chr7:65669970-65669979 chr7:65670137-65670151 chr7:65670677-65670691 chr7:65670634-65670646 chr7:65670636-65670645 chr7:65669970-65669980 chr7:65670635-65670644 chr7:65669966-65669980
7	EBF1	chr7:65669722-65670215	GM12878	blood:	n/a	n/a
8	MXI1	chr7:65669396-65672418	IMR90	lung:	n/a	chr7:65669993-65670002 chr7:65670034-65670049 chr7:65670032-65670047
9	POU2F2	chr7:65669628-65670524	GM12878	blood:	n/a	chr7:65669807-65669819 chr7:65669970-65669982 chr7:65669810-65669817 chr7:65669808-65669818 chr7:65669808-65669818 chr7:65669809-65669818 chr7:65669807-65669821
10	HCFC1	chr7:65669474-65670617	Hela-S3	cervix:	n/a	n/a
11	TBP	chr7:65669423-65669788	GM12878	blood:	n/a	n/a
12	MAX	chr7:65669660-65670409	A549	lung:	n/a	chr7:65670022-65670031
13	CHD2	chr7:65669718-65670476	HepG2	liver:	n/a	n/a
14	MAZ	chr7:65669534-65671286	IMR90	lung:	n/a	chr7:65670022-65670031 chr7:65670851-65670860
15	CHD2	chr7:65669612-65670934	GM12878	blood:	n/a	n/a
16	RFX5	chr7:65669642-65670449	GM12878	blood:	n/a	chr7:65670033-65670048 chr7:65670030-65670045 chr7:65670031-65670045 chr7:65670034-65670043 chr7:65670032-65670049 chr7:65670033-65670048 chr7:65670033-65670048
17	ZBTB7A	chr7:65669754-65671001	ECC-1	luminal epithelium:	n/a	chr7:65670108-65670117 chr7:65670689-65670696
18	MAX	chr7:65669690-65670540	SK-N-SH	brain:	n/a	chr7:65670022-65670031
19	SMC3	chr7:65669507-65669994	HepG2	liver:	n/a	n/a
20	SIN3AK20	chr7:65669726-65670496	H1-hESC	embryonic stem cell:	n/a	n/a
21	CREB1	chr7:65669618-65671079	HepG2	liver:	n/a	n/a
22	REST	chr7:65669286-65671224	H1-neurons	neurons:	n/a	chr7:65670936-65670949
23	MAX	chr7:65669730-65670798	MCF-7	breast:	n/a	chr7:65670022-65670031
24	USF2	chr7:65669759-65669887	Hela-S3	cervix:	n/a	n/a
25	REST	chr7:65669495-65671020	H1-neurons	neurons:	n/a	chr7:65670936-65670949
26	FOXA2	chr7:65669661-65669969	HepG2	liver:	n/a	n/a
27	HDAC2	chr7:65669633-65670456	HepG2	liver:	n/a	chr7:65669684-65669698 chr7:65669708-65669722
28	RFX5	chr7:65669096-65673639	SK-N-SH	brain:	n/a	chr7:65670033-65670048 chr7:65670030-65670045 chr7:65670031-65670045 chr7:65670034-65670043 chr7:65670032-65670049 chr7:65670033-65670048 chr7:65670033-65670048
29	BHLHE40	chr7:65669624-65670476	GM12878	blood:	n/a	n/a
30	RELA	chr7:65669656-65670519	GM12891	blood:	n/a	n/a
31	CHD1	chr7:65669733-65672187	IMR90	lung:	n/a	n/a
32	RFX5	chr7:65669597-65670537	Hela-S3	cervix:	n/a	chr7:65670033-65670048 chr7:65670030-65670045 chr7:65670031-65670045 chr7:65670034-65670043 chr7:65670032-65670049 chr7:65670033-65670048 chr7:65670033-65670048
33	SIN3AK20	chr7:65669696-65670961	SK-N-SH	brain:	n/a	n/a
34	MTA3	chr7:65669431-65670027	GM12878	blood:	n/a	n/a
35	RUNX3	chr7:65669507-65670593	GM12878	blood:	n/a	n/a
36	USF2	chr7:65669724-65670420	GM12878	blood:	n/a	n/a
37	SP1	chr7:65669740-65670596	A549	lung:	n/a	chr7:65670136-65670148 chr7:65670137-65670146 chr7:65670136-65670148 chr7:65670138-65670147 chr7:65669970-65669979 chr7:65670137-65670151 chr7:65669970-65669980 chr7:65669966-65669980
38	CTCF	chr7:65669441-65670751	A549	lung:	n/a	chr7:65669993-65670006 chr7:65670673-65670686 chr7:65669990-65670003
39	CUX1	chr7:65669706-65669883	K562	blood:	n/a	n/a
40	SIN3AK20	chr7:65669758-65670863	PANC-1	pancreas:	n/a	n/a
41	CTCF	chr7:65669740-65669890	GM12874	blood:	n/a	n/a
42	CTCF	chr7:65669680-65669830	HRE	kidney:	n/a	n/a
43	WRNIP1	chr7:65669763-65669963	GM12878	blood:	n/a	n/a
44	MXI1	chr7:65669632-65669785	K562	blood:	n/a	n/a
45	RAD21	chr7:65669713-65670968	SK-N-SH_RA	brain:	n/a	chr7:65670747-65670759 chr7:65670059-65670073
46	POLR2A	chr7:65669407-65670701	H1-neurons	neurons:	n/a	n/a
47	FOXA1	chr7:65669627-65670513	HepG2	liver:	n/a	n/a
48	TCF12	chr7:65669559-65670517	A549	lung:	n/a	n/a
49	SREBP2	chr7:65669177-65670804	GM12878	blood:	n/a	n/a
50	CREB1	chr7:65669734-65670635	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:65669728-65669778	SAEC	small airway:	n/a
2	chr7:65669728-65669778	PrEC	prostate:	n/a
3	chr7:65669728-65669778	HepG2	liver:	n/a
4	chr7:65669728-65669778	HCPEpiC	choroid plexus:	n/a
5	chr7:65669728-65669778	Hepatocyte	liver:	n/a
6	chr7:65669728-65669778	HEEpiC	esophagus:	n/a
7	chr7:65669728-65669778	HRPEpiC	eye:	n/a
8	chr7:65669728-65669778	HNPCEpiC	eye:	n/a
9	chr7:65669728-65669778	HRCEpiC	kidney:	n/a
10	chr7:65669728-65669778	MCF10A-Er-Src	breast:	n/a
11	chr7:65669728-65669778	GM06990	blood:	n/a
12	chr7:65669728-65669778	HAEpiC	amniotic membrane:	n/a
13	chr7:65669728-65669778	MCF-7	breast:	n/a
14	chr7:65669728-65669778	Caco-2	colon:	n/a
15	chr7:65669728-65669778	ovcar-3	ovarian:	n/a
16	chr7:65669728-65669778	IMR90	lung:	fetal
17	chr7:65669728-65669778	NH-A	brain:	n/a
18	chr7:65669728-65669778	SK-N-SH_RA	brain:	n/a
19	chr7:65669728-65669778	GM12891	blood:	n/a
20	chr7:65669728-65669778	CMK	blood:	n/a
21	chr7:65669728-65669778	Hela-S3	cervix:	n/a
22	chr7:65669728-65669778	K562	blood:	n/a
23	chr7:65669728-65669778	PFSK-1	brain:	n/a
24	chr7:65669728-65669778	NT2-D1	testis:	n/a
25	chr7:65669728-65669778	RPTEC	kidney:	n/a
26	chr7:65669728-65669778	AG10803	skin:	n/a
27	chr7:65669728-65669778	AG04449	skin:	fetal
28	chr7:65669728-65669778	SK-N-SH	brain:	n/a
29	chr7:65669728-65669778	ECC-1	luminal epithelium:	n/a
30	chr7:65669728-65669778	AG04450	lung:	fetal
31	chr7:65669728-65669778	HL-60	blood:	n/a
32	chr7:65669728-65669778	SKMC	muscle:	n/a
33	chr7:65669728-65669778	GM12892	blood:	n/a
34	chr7:65669728-65669778	GM12878	blood:	n/a
35	chr7:65669728-65669778	HRE	kidney:	n/a
36	chr7:65669728-65669778	NB4	blood:	n/a
37	chr7:65669728-65669778	T-47D	breast:	n/a
38	chr7:65669728-65669778	NHDF-neo	bronchial:	n/a
39	chr7:65669728-65669778	HPAEpiC	pulmonary alveolar:	n/a
40	chr7:65669728-65669778	HUVEC	blood vessel:	n/a
41	chr7:65669728-65669778	BE2_C	brain:	n/a
42	chr7:65669728-65669778	HEK293	kidney:	embryo
43	chr7:65669728-65669778	HCT-116	colon:	n/a
44	chr7:65669728-65669778	LNCaP	prostate:	n/a
45	chr7:65669728-65669778	U87	brain:	n/a
46	chr7:65669728-65669778	SK-N-MC	brain:	n/a
47	chr7:65669728-65669778	HCF	heart:	n/a
48	chr7:65669728-65669778	HIPEpiC	eye:	n/a
49	chr7:65669728-65669778	BJ	skin:	n/a
50	chr7:65669728-65669778	PANC-1	pancreas:	n/a

Variant related genes	Relation type
TPST1	TF binding region
TPST1	CpG island

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	esv2761079	chr7:65092426-65689733	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
3	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers 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	116 gene(s)	inside rSNPs	diseases
4	esv3375675	chr7:65669142-65671690	Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65660800-65669800	Weak transcription	Spleen	Spleen
2	chr7:65669400-65669800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr7:65669400-65669800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr7:65669400-65669800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr7:65669400-65669800	Flanking Active TSS	Stomach Mucosa	stomach
6	chr7:65669400-65670000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:65669400-65670000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr7:65669400-65670000	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr7:65669400-65670000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr7:65669400-65670000	Flanking Active TSS	Liver	Liver
11	chr7:65669400-65670000	Flanking Active TSS	GM12878-XiMat	blood
12	chr7:65669400-65670000	Flanking Active TSS	Hela-S3	cervix
13	chr7:65669400-65670200	Flanking Active TSS	Primary hematopoietic stem cells	blood
14	chr7:65669400-65670600	Active TSS	Stomach Smooth Muscle	stomach
15	chr7:65669400-65670600	Bivalent/Poised TSS	Thymus	Thymus
16	chr7:65669400-65670800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr7:65669400-65671000	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr7:65669400-65671000	Active TSS	Cortex derived primary cultured neurospheres	brain
19	chr7:65669400-65671000	Active TSS	Fetal Kidney	kidney
20	chr7:65669400-65671200	Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr7:65669400-65671200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr7:65669400-65672200	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr7:65669400-65672400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:65669400-65673200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr7:65669600-65669800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
26	chr7:65669600-65669800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr7:65669600-65669800	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr7:65669600-65669800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr7:65669600-65669800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr7:65669600-65669800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
31	chr7:65669600-65669800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
32	chr7:65669600-65669800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
33	chr7:65669600-65669800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
34	chr7:65669600-65669800	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
35	chr7:65669600-65669800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
36	chr7:65669600-65669800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr7:65669600-65669800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr7:65669600-65669800	Flanking Active TSS	Brain Hippocampus Middle	brain
39	chr7:65669600-65669800	Active TSS	Colonic Mucosa	Colon
40	chr7:65669600-65669800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
41	chr7:65669600-65669800	Flanking Active TSS	Fetal Brain Male	brain
42	chr7:65669600-65669800	Flanking Active TSS	Fetal Heart	heart
43	chr7:65669600-65669800	Flanking Active TSS	Fetal Muscle Leg	muscle
44	chr7:65669600-65669800	Enhancers	Placenta	Placenta
45	chr7:65669600-65669800	Flanking Active TSS	Fetal Stomach	stomach
46	chr7:65669600-65669800	Bivalent Enhancer	Fetal Thymus	thymus
47	chr7:65669600-65669800	Active TSS	Psoas Muscle	Psoas
48	chr7:65669600-65669800	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
49	chr7:65669600-65669800	Enhancers	Small Intestine	intestine
50	chr7:65669600-65669800	Flanking Active TSS	A549	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links