Variant report

Variant	rs693758
Chromosome Location	chr6:13287400-13287401
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:13286577-13289782	GM12878	blood:	n/a	n/a
2	POLR2A	chr6:13284901-13290945	K562	blood:	n/a	n/a
3	CBX3	chr6:13287335-13287723	K562	blood:	n/a	n/a
4	POLR2A	chr6:13287126-13290476	GM12892	blood:	n/a	n/a
5	POLR2A	chr6:13287396-13289874	GM12878	blood:	n/a	n/a
6	POLR2A	chr6:13287114-13287416	HUVEC	blood vessel:	n/a	n/a
7	KAP1	chr6:13287259-13288033	K562	blood:	n/a	n/a
8	CBX3	chr6:13287290-13287974	K562	blood:	n/a	n/a
9	POLR2A	chr6:13284889-13290972	GM12891	blood:	n/a	n/a
10	POLR2A	chr6:13286946-13289896	GM12892	blood:	n/a	n/a
11	POLR2A	chr6:13286607-13288340	A549	lung:	n/a	n/a
12	SETDB1	chr6:13287368-13287787	K562	blood:	n/a	n/a
13	POLR2A	chr6:13284835-13292200	GM12878	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:13281485..13284268-chr6:13286198..13288024,2	K562	blood:
2	chr6:13272685..13275870-chr6:13286064..13289898,4	K562	blood:
3	chr1:1508619..1510738-chr6:13285485..13287927,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000215022	TF binding region
ENSG00000160075	Chromatin interaction
ENSG00000215022	Chromatin interaction
ENSG00000215014	Chromatin interaction
ENSG00000112137	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs366332	0.86[ASN][1000 genomes]
rs368590	0.86[ASN][1000 genomes]
rs408284	0.81[ASN][1000 genomes]
rs416831	0.86[ASN][1000 genomes]
rs435466	0.85[CHD][hapmap];0.91[JPT][hapmap];0.89[MKK][hapmap];0.92[YRI][hapmap];0.86[ASN][1000 genomes]
rs449321	0.81[CHD][hapmap];0.83[JPT][hapmap];0.91[YRI][hapmap];0.80[ASN][1000 genomes]
rs450025	0.86[ASN][1000 genomes]
rs452021	0.86[ASN][1000 genomes]
rs45450	0.86[ASN][1000 genomes]
rs530507	0.88[EUR][1000 genomes]
rs542618	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs546017	0.85[ASN][1000 genomes]
rs578290	0.89[ASW][hapmap];1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7769621	1.00[CEU][hapmap]
rs7770755	1.00[CEU][hapmap]
rs9367406	1.00[CEU][hapmap];0.88[EUR][1000 genomes]

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	nsv532021	chr6:13232627-13805381	Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1028533	chr6:13239059-13484814	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers 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	23 gene(s)	inside rSNPs	diseases
3	nsv538136	chr6:13239059-13484814	Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1034016	chr6:13248122-13418225	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats 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	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13270200-13291600	Weak transcription	HSMM	muscle
2	chr6:13273800-13291400	Weak transcription	Psoas Muscle	Psoas
3	chr6:13274400-13289200	Weak transcription	HSMMtube	muscle
4	chr6:13274600-13302000	Weak transcription	Small Intestine	intestine
5	chr6:13274800-13292800	Weak transcription	Colon Smooth Muscle	Colon
6	chr6:13275600-13291600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr6:13276000-13287400	Genic enhancers	Primary B cells from peripheral blood	blood
8	chr6:13279400-13287800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr6:13280000-13288000	Strong transcription	Brain Anterior Caudate	brain
10	chr6:13280000-13289000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr6:13280000-13292600	Weak transcription	NHLF	lung
12	chr6:13280200-13292400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:13280800-13287600	Weak transcription	NHDF-Ad	bronchial
14	chr6:13282800-13289400	Strong transcription	Right Ventricle	heart
15	chr6:13282800-13291600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr6:13283400-13287800	Strong transcription	Brain Hippocampus Middle	brain
17	chr6:13283600-13287400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr6:13283600-13287400	Strong transcription	Pancreas	Pancrea
19	chr6:13283600-13288600	Strong transcription	Aorta	Aorta
20	chr6:13283600-13289600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr6:13284000-13293000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr6:13284000-13294200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr6:13285000-13289600	ZNF genes & repeats	Fetal Intestine Small	intestine
24	chr6:13285400-13302400	Weak transcription	HUVEC	blood vessel
25	chr6:13285800-13288600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr6:13285800-13288800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
27	chr6:13285800-13289800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr6:13285800-13293000	Weak transcription	Brain Angular Gyrus	brain
29	chr6:13285800-13293000	Weak transcription	Brain Substantia Nigra	brain
30	chr6:13286000-13288800	ZNF genes & repeats	Fetal Stomach	stomach
31	chr6:13286200-13288200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
32	chr6:13286200-13288200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
33	chr6:13286200-13288400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
34	chr6:13286400-13288800	ZNF genes & repeats	HepG2	liver
35	chr6:13286400-13289000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr6:13286600-13287400	Genic enhancers	Monocytes-CD14+_RO01746	blood
37	chr6:13286600-13288200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
38	chr6:13286600-13288400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr6:13286600-13288600	ZNF genes & repeats	Fetal Muscle Leg	muscle
40	chr6:13286600-13288600	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
41	chr6:13286600-13288600	ZNF genes & repeats	K562	blood
42	chr6:13286600-13288800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
43	chr6:13286600-13289000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
44	chr6:13286600-13291600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr6:13286600-13292800	Weak transcription	Colonic Mucosa	Colon
46	chr6:13286800-13287400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
47	chr6:13286800-13287400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr6:13286800-13287600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr6:13286800-13288200	ZNF genes & repeats	Liver	Liver
50	chr6:13286800-13288200	ZNF genes & repeats	Fetal Heart	heart

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