Variant report

Variant	rs73404547
Chromosome Location	chr7:96655579-96655580
allele	A/G
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	POLR2A	chr7:96655189-96656411	H1-neurons	neurons:	n/a	n/a
2	RUNX3	chr7:96655562-96655787	GM12878	blood:	n/a	chr7:96655747-96655756 chr7:96655747-96655756
3	POLR2A	chr7:96655396-96656178	H1-neurons	neurons:	n/a	n/a
4	RAD21	chr7:96655299-96657631	SK-N-SH	brain:	n/a	chr7:96655925-96655938 chr7:96657146-96657165
5	SUZ12	chr7:96655000-96657260	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTBP2	chr7:96655258-96656079	H1-hESC	embryonic stem cell:	n/a	n/a
7	REST	chr7:96624507-96656402	H1-neurons	neurons:	n/a	chr7:96626900-96626913 chr7:96628274-96628287 chr7:96653242-96653252 chr7:96638441-96638449 chr7:96644780-96644790 chr7:96627625-96627635 chr7:96628223-96628236 chr7:96655951-96655958 chr7:96625513-96625526 chr7:96635204-96635222 chr7:96634677-96634690 chr7:96628302-96628315 chr7:96652071-96652084 chr7:96650634-96650647 chr7:96628298-96628318 chr7:96628298-96628318
8	POLR2A	chr7:96655282-96655929	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:96655566-96655616	IMR90	lung:	fetal
2	chr7:96655566-96655616	HEEpiC	esophagus:	n/a
3	chr7:96655566-96655616	HRCEpiC	kidney:	n/a
4	chr7:96655566-96655616	GM12891	blood:	n/a
5	chr7:96655566-96655616	ovcar-3	ovarian:	n/a
6	chr7:96655566-96655616	PrEC	prostate:	n/a
7	chr7:96655566-96655616	HRE	kidney:	n/a
8	chr7:96655566-96655616	A549	lung:	n/a
9	chr7:96655566-96655616	HCM	heart:	n/a
10	chr7:96655566-96655616	SK-N-MC	brain:	n/a
11	chr7:96655566-96655616	NB4	blood:	n/a
12	chr7:96655566-96655616	LNCaP	prostate:	n/a
13	chr7:96655566-96655616	GM12892	blood:	n/a
14	chr7:96655566-96655616	HepG2	liver:	n/a
15	chr7:96655566-96655616	K562	blood:	n/a
16	chr7:96655566-96655616	Hepatocyte	liver:	n/a
17	chr7:96655566-96655616	Jurkat	blood:	n/a
18	chr7:96655566-96655616	HCF	heart:	n/a
19	chr7:96655566-96655616	GM12878	blood:	n/a
20	chr7:96655566-96655616	U87	brain:	n/a
21	chr7:96655566-96655616	HCPEpiC	choroid plexus:	n/a
22	chr7:96655566-96655616	AG04449	skin:	fetal
23	chr7:96655566-96655616	SK-N-SH_RA	brain:	n/a
24	chr7:96655566-96655616	NHDF-neo	bronchial:	n/a
25	chr7:96655566-96655616	RPTEC	kidney:	n/a
26	chr7:96655566-96655616	SKMC	muscle:	n/a
27	chr7:96655566-96655616	HRPEpiC	eye:	n/a
28	chr7:96655566-96655616	ProgFib	skin:	n/a
29	chr7:96655566-96655616	HCT-116	colon:	n/a
30	chr7:96655566-96655616	HMEC	breast:	n/a
31	chr7:96655566-96655616	T-47D	breast:	n/a
32	chr7:96655566-96655616	MCF-7	breast:	n/a
33	chr7:96655566-96655616	PANC-1	pancreas:	n/a
34	chr7:96655566-96655616	AG10803	skin:	n/a
35	chr7:96655566-96655616	MCF10A-Er-Src	breast:	n/a
36	chr7:96655566-96655616	AG04450	lung:	fetal
37	chr7:96655566-96655616	NT2-D1	testis:	n/a
38	chr7:96655566-96655616	AoSMC	blood vessel:	n/a
39	chr7:96655566-96655616	HIPEpiC	eye:	n/a
40	chr7:96655566-96655616	PFSK-1	brain:	n/a
41	chr7:96655566-96655616	HPAEpiC	pulmonary alveolar:	n/a
42	chr7:96655566-96655616	HUVEC	blood vessel:	n/a
43	chr7:96655566-96655616	HEK293	kidney:	embryo
44	chr7:96655566-96655616	AG09319	gingival:	n/a
45	chr7:96655566-96655616	NH-A	brain:	n/a
46	chr7:96655566-96655616	Hela-S3	cervix:	n/a
47	chr7:96655566-96655616	H1-hESC	embryonic stem cell:	embryo
48	chr7:96655566-96655616	HL-60	blood:	n/a
49	chr7:96655566-96655616	Caco-2	colon:	n/a
50	chr7:96655566-96655616	HNPCEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:95543308..95544949-chr7:96654875..96656626,2	MCF-7	breast:

Variant related genes	Relation type
DLX5	TF binding region
DLX5	CpG island

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17168147	1.00[EUR][1000 genomes]
rs57290194	1.00[EUR][1000 genomes]
rs6963087	1.00[EUR][1000 genomes]
rs73404527	1.00[EUR][1000 genomes]
rs73404541	1.00[EUR][1000 genomes]
rs73404545	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv824221	chr7:96620279-96669211	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv970552	chr7:96654892-96655988	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:96653200-96656600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
2	chr7:96654000-96657200	Bivalent Enhancer	Fetal Brain Male	brain
3	chr7:96654200-96655600	Weak transcription	Gastric	stomach
4	chr7:96654200-96655600	Weak transcription	Pancreas	Pancrea
5	chr7:96654200-96656800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:96654400-96655600	Weak transcription	Right Ventricle	heart
7	chr7:96654400-96657200	Bivalent/Poised TSS	Fetal Brain Female	brain
8	chr7:96654600-96655600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
9	chr7:96654600-96655600	Enhancers	Ovary	ovary
10	chr7:96654600-96657000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:96654800-96655600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
12	chr7:96654800-96656400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr7:96654800-96656600	Weak transcription	Osteobl	bone
14	chr7:96655000-96655600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
15	chr7:96655000-96655800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
16	chr7:96655200-96655600	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
17	chr7:96655200-96655600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:96655200-96655600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
19	chr7:96655200-96655600	Bivalent Enhancer	Colon Smooth Muscle	Colon
20	chr7:96655200-96655800	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
21	chr7:96655200-96655800	Bivalent Enhancer	Colonic Mucosa	Colon
22	chr7:96655200-96656200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
23	chr7:96655200-96656200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
24	chr7:96655200-96656200	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
25	chr7:96655200-96656400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
26	chr7:96655200-96656800	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
27	chr7:96655200-96657200	Bivalent/Poised TSS	Brain Angular Gyrus	brain
28	chr7:96655400-96655600	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr7:96655400-96655600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
30	chr7:96655400-96655600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr7:96655400-96655600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr7:96655400-96655600	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr7:96655400-96655600	Bivalent Enhancer	Liver	Liver
34	chr7:96655400-96655600	Bivalent Enhancer	Brain Anterior Caudate	brain
35	chr7:96655400-96655600	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
36	chr7:96655400-96655600	Bivalent Enhancer	Rectal Smooth Muscle	rectum
37	chr7:96655400-96655600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
38	chr7:96655400-96655600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
39	chr7:96655400-96655800	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
40	chr7:96655400-96655800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
41	chr7:96655400-96655800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr7:96655400-96655800	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
43	chr7:96655400-96656000	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
44	chr7:96655400-96656000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
45	chr7:96655400-96656000	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
46	chr7:96655400-96656000	Flanking Bivalent TSS/Enh	Brain Substantia Nigra	brain
47	chr7:96655400-96656200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
48	chr7:96655400-96656200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
49	chr7:96655400-96656200	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
50	chr7:96655400-96656400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood

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