Variant report

Variant	rs73404534
Chromosome Location	chr7:96639430-96639431
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	TAF1	chr7:96638891-96639438	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr7:96629453-96654775	H1-neurons	neurons:	n/a	n/a
3	TAF1	chr7:96639147-96639610	H1-neurons	neurons:	n/a	n/a
4	REST	chr7:96635837-96639884	H1-neurons	neurons:	n/a	chr7:96638441-96638449
5	TBP	chr7:96639004-96639544	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr7:96628026-96649797	H1-neurons	neurons:	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	SUZ12	chr7:96638942-96639548	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:96639411-96639461	NHDF-neo	bronchial:	n/a
2	chr7:96639411-96639461	SAEC	small airway:	n/a
3	chr7:96639411-96639461	HEEpiC	esophagus:	n/a
4	chr7:96639411-96639461	GM12878	blood:	n/a
5	chr7:96639411-96639461	SK-N-SH_RA	brain:	n/a
6	chr7:96639411-96639461	BJ	skin:	n/a
7	chr7:96639411-96639461	K562	blood:	n/a
8	chr7:96639411-96639461	HUVEC	blood vessel:	n/a
9	chr7:96639411-96639461	U87	brain:	n/a
10	chr7:96639411-96639461	AG04450	lung:	fetal
11	chr7:96639411-96639461	Hela-S3	cervix:	n/a
12	chr7:96639411-96639461	CMK	blood:	n/a
13	chr7:96639411-96639461	GM12892	blood:	n/a
14	chr7:96639411-96639461	AG09319	gingival:	n/a
15	chr7:96639411-96639461	GM06990	blood:	n/a
16	chr7:96639411-96639461	HNPCEpiC	eye:	n/a
17	chr7:96639411-96639461	HRPEpiC	eye:	n/a
18	chr7:96639411-96639461	NH-A	brain:	n/a
19	chr7:96639411-96639461	HL-60	blood:	n/a
20	chr7:96639411-96639461	AoSMC	blood vessel:	n/a
21	chr7:96639411-96639461	SKMC	muscle:	n/a
22	chr7:96639411-96639461	PANC-1	pancreas:	n/a
23	chr7:96639411-96639461	ovcar-3	ovarian:	n/a
24	chr7:96639411-96639461	BE2_C	brain:	n/a
25	chr7:96639411-96639461	HAEpiC	amniotic membrane:	n/a
26	chr7:96639411-96639461	HRE	kidney:	n/a
27	chr7:96639411-96639461	A549	lung:	n/a
28	chr7:96639411-96639461	HMEC	breast:	n/a
29	chr7:96639411-96639461	Jurkat	blood:	n/a
30	chr7:96639411-96639461	SK-N-SH	brain:	n/a
31	chr7:96639411-96639461	RPTEC	kidney:	n/a
32	chr7:96639411-96639461	HCT-116	colon:	n/a
33	chr7:96639411-96639461	HEK293	kidney:	embryo
34	chr7:96639411-96639461	HepG2	liver:	n/a
35	chr7:96639411-96639461	AG09309	skin:	n/a
36	chr7:96639411-96639461	T-47D	breast:	n/a
37	chr7:96639411-96639461	MCF-7	breast:	n/a
38	chr7:96639411-96639461	ProgFib	skin:	n/a
39	chr7:96639411-96639461	GM19239	blood:	n/a
40	chr7:96639411-96639461	HCF	heart:	n/a
41	chr7:96639411-96639461	NHBE	bronchial:	n/a
42	chr7:96639411-96639461	GM12891	blood:	n/a
43	chr7:96639411-96639461	H1-hESC	embryonic stem cell:	embryo
44	chr7:96639411-96639461	IMR90	lung:	fetal
45	chr7:96639411-96639461	SK-N-MC	brain:	n/a
46	chr7:96639411-96639461	HCPEpiC	choroid plexus:	n/a
47	chr7:96639411-96639461	HRCEpiC	kidney:	n/a
48	chr7:96639411-96639461	NT2-D1	testis:	n/a
49	chr7:96639411-96639461	LNCaP	prostate:	n/a
50	chr7:96639411-96639461	HIPEpiC	eye:	n/a

Variant related genes	Relation type
DLX6-AS2	TF binding region
DLX6-AS2	CpG island

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10499935	1.00[AMR][1000 genomes]
rs73404521	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73404532	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:96625000-96644000	Bivalent/Poised TSS	Fetal Brain Female	brain
2	chr7:96628000-96643200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
3	chr7:96636800-96641000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr7:96636800-96641400	Weak transcription	Osteobl	bone
5	chr7:96637200-96643400	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr7:96638000-96639800	Strong transcription	Placenta	Placenta
7	chr7:96638400-96639600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr7:96638800-96640000	Bivalent/Poised TSS	Cortex derived primary cultured neurospheres	brain
9	chr7:96639000-96641200	Bivalent/Poised TSS	Fetal Brain Male	brain
10	chr7:96639200-96639600	Bivalent/Poised TSS	Brain Angular Gyrus	brain
11	chr7:96639200-96640000	Bivalent/Poised TSS	Brain Anterior Caudate	brain
12	chr7:96639400-96639600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr7:96639400-96644400	Weak transcription	HepG2	liver

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