Variant report

Variant	rs11968757
Chromosome Location	chr6:35707354-35707355
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:4)
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	ATF2	chr6:35707340-35707747	H1-hESC	embryonic stem cell:	n/a	n/a
2	MYBL2	chr6:35707343-35708072	HepG2	liver:	n/a	n/a
3	ELF1	chr6:35707353-35708073	HepG2	liver:	n/a	n/a
4	SP1	chr6:35707192-35707854	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr6:35707338-35708182	H1-hESC	embryonic stem cell:	n/a	n/a
6	NANOG	chr6:35707224-35707713	H1-hESC	embryonic stem cell:	n/a	n/a
7	EP300	chr6:35707211-35707626	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr6:35707165-35708241	H1-hESC	embryonic stem cell:	n/a	n/a
9	JUND	chr6:35707320-35707894	H1-hESC	embryonic stem cell:	n/a	n/a
10	TEAD4	chr6:35707220-35707728	H1-hESC	embryonic stem cell:	n/a	n/a
11	SP1	chr6:35707216-35707782	H1-hESC	embryonic stem cell:	n/a	n/a
12	TAF1	chr6:35707319-35707845	H1-hESC	embryonic stem cell:	n/a	n/a
13	TEAD4	chr6:35707192-35708028	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:35635609..35637648-chr6:35705091..35708363,3	K562	blood:
2	chr6:35705625..35707996-chr6:35708149..35710885,2	K562	blood:
3	chr6:35484947..35487369-chr6:35706510..35709291,2	K562	blood:
4	chr6:35654156..35657013-chr6:35704693..35707749,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000232909	TF binding region
ENSG00000096060	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs9470086	0.87[AFR][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	esv2758048	chr6:35463741-35806504	Genic enhancers Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv2759420	chr6:35463741-35806504	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv602924	chr6:35505311-35750299	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	esv3430300	chr6:35549151-35959004	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv821646	chr6:35604428-35802594	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv885802	chr6:35621781-35787417	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
7	nsv885803	chr6:35621781-35805133	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
8	nsv885804	chr6:35621781-35809776	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
9	nsv428143	chr6:35637083-35806504	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
10	nsv1028947	chr6:35670521-35714541	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
11	nsv885805	chr6:35685955-35779879	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35700600-35708000	Weak transcription	Fetal Brain Female	brain
2	chr6:35700800-35707400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:35700800-35710400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr6:35701800-35707600	Weak transcription	Duodenum Mucosa	Duodenum
5	chr6:35702000-35707400	Weak transcription	Liver	Liver
6	chr6:35703000-35707800	Weak transcription	Stomach Mucosa	stomach
7	chr6:35703800-35707400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr6:35704200-35707600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr6:35704200-35707600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr6:35704400-35707600	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr6:35704400-35707600	Weak transcription	Fetal Stomach	stomach
12	chr6:35705000-35708000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:35705000-35709000	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr6:35705400-35707400	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr6:35705400-35707400	Enhancers	HepG2	liver
16	chr6:35705400-35707600	Weak transcription	Fetal Muscle Leg	muscle
17	chr6:35705400-35707600	Weak transcription	HUVEC	blood vessel
18	chr6:35705400-35710400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr6:35705600-35707600	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr6:35705600-35707800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr6:35705800-35707400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr6:35705800-35707400	Weak transcription	Fetal Kidney	kidney
23	chr6:35705800-35707600	Weak transcription	Adipose Nuclei	Adipose
24	chr6:35705800-35707600	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr6:35705800-35707800	Weak transcription	Ovary	ovary
26	chr6:35705800-35708200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr6:35705800-35724600	Weak transcription	Fetal Brain Male	brain
28	chr6:35706000-35707600	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr6:35706000-35707600	Weak transcription	Spleen	Spleen
30	chr6:35706000-35707600	Weak transcription	K562	blood
31	chr6:35706000-35707800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr6:35706200-35707600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr6:35706200-35708600	Enhancers	H9 Cell Line	embryonic stem cell
34	chr6:35706400-35707600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr6:35706400-35707600	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr6:35706400-35710400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr6:35706600-35709000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr6:35706600-35709200	Enhancers	H1 Cell Line	embryonic stem cell
39	chr6:35706800-35707600	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr6:35707000-35707400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr6:35707000-35707400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr6:35707000-35708000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr6:35707200-35707600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr6:35707200-35708400	Enhancers	Fetal Intestine Small	intestine
45	chr6:35707200-35708600	Enhancers	Fetal Intestine Large	intestine

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