Variant report

Variant	rs973122
Chromosome Location	chr13:76126237-76126238
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	POLR2A	chr13:76126108-76126459	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr13:76124018..76125732-chr13:76125795..76127481,2	MCF-7	breast:
2	chr13:76055434..76058277-chr13:76123047..76126766,3	K562	blood:
3	chr13:76110734..76112526-chr13:76124795..76127675,2	K562	blood:

Variant related genes	Relation type
COMMD6	TF binding region
ENSG00000188243	Chromatin interaction
ENSG00000136111	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1535725	1.00[AMR][1000 genomes]
rs4632012	1.00[AMR][1000 genomes]
rs4885320	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7330411	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7987763	1.00[AMR][1000 genomes]
rs7989770	1.00[AMR][1000 genomes]
rs7997260	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7998005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8001271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9543975	0.80[AFR][1000 genomes]
rs9543982	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9543998	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9573583	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761803	chr13:75943309-76161774	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv900562	chr13:76072743-76176680	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv900563	chr13:76093935-76169347	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv900564	chr13:76100090-76156136	Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv900565	chr13:76111280-76169347	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv900566	chr13:76123678-76153748	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv900567	chr13:76123678-76156136	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv900568	chr13:76123678-76159104	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv900569	chr13:76123678-76167433	Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv900570	chr13:76123678-76176680	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv900571	chr13:76123678-76207565	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76124600-76183000	Weak transcription	Small Intestine	intestine
2	chr13:76124800-76126400	Weak transcription	HSMM	muscle
3	chr13:76124800-76126600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr13:76124800-76127400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr13:76124800-76127600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr13:76124800-76127800	Weak transcription	Fetal Muscle Leg	muscle
7	chr13:76124800-76127800	Weak transcription	Left Ventricle	heart
8	chr13:76124800-76128000	Weak transcription	Aorta	Aorta
9	chr13:76124800-76128000	Weak transcription	Ovary	ovary
10	chr13:76124800-76128400	Weak transcription	HSMMtube	muscle
11	chr13:76124800-76128600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr13:76124800-76129000	Weak transcription	Esophagus	oesophagus
13	chr13:76124800-76129200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr13:76124800-76130200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr13:76124800-76130800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr13:76124800-76135200	Weak transcription	Pancreas	Pancrea
17	chr13:76124800-76146400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr13:76124800-76146600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr13:76124800-76146600	Weak transcription	Lung	lung
20	chr13:76124800-76147600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr13:76124800-76164000	Weak transcription	Spleen	Spleen
22	chr13:76124800-76167600	Weak transcription	Gastric	stomach
23	chr13:76124800-76170600	Weak transcription	Colonic Mucosa	Colon
24	chr13:76125000-76126400	Enhancers	Primary T cells from cord blood	blood
25	chr13:76125000-76126600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr13:76125000-76126800	Enhancers	HepG2	liver
27	chr13:76125000-76127200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr13:76125000-76127400	Weak transcription	Fetal Kidney	kidney
29	chr13:76125000-76127800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr13:76125000-76127800	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr13:76125000-76128600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr13:76125000-76129200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr13:76125000-76129200	Weak transcription	Fetal Stomach	stomach
34	chr13:76125000-76132400	Weak transcription	Brain Cingulate Gyrus	brain
35	chr13:76125000-76141400	Weak transcription	Fetal Lung	lung
36	chr13:76125000-76143400	Weak transcription	Stomach Smooth Muscle	stomach
37	chr13:76125000-76147600	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr13:76125000-76156200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr13:76125000-76158000	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr13:76125000-76192800	Weak transcription	Brain Substantia Nigra	brain
41	chr13:76125000-76209600	Weak transcription	Right Ventricle	heart
42	chr13:76125200-76126400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr13:76125200-76126400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr13:76125200-76126600	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr13:76125200-76126600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr13:76125200-76126800	Genic enhancers	NHEK	skin
47	chr13:76125200-76126800	Weak transcription	NHLF	lung
48	chr13:76125200-76127400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr13:76125200-76127800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr13:76125200-76128400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links