Variant report

Variant	rs967457
Chromosome Location	chr11:34208200-34208201
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	FOXP2	chr11:34208172-34208363	PFSK-1	brain:	n/a	n/a
2	SIN3A	chr11:34207811-34208337	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTBP2	chr11:34207727-34208577	H1-hESC	embryonic stem cell:	n/a	n/a
4	REST	chr11:34207976-34208370	PFSK-1	brain:	n/a	n/a
5	TBP	chr11:34207985-34208411	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr11:34208183-34208219	H1-hESC	embryonic stem cell:	n/a	n/a
7	REST	chr11:34207483-34208468	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:34199620..34202889-chr11:34205068..34208989,4	K562	blood:
2	chr11:34206532..34209064-chr11:34210711..34213198,2	K562	blood:

Variant related genes	Relation type
ENSG00000201867	TF binding region
ENSG00000201867	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1883962	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2473904	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2473909	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2473910	0.91[AMR][1000 genomes]
rs2473912	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs910255	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][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	nsv511473	chr11:34202953-34212883	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34196600-34210200	Weak transcription	HepG2	liver
2	chr11:34196600-34214000	Weak transcription	Stomach Mucosa	stomach
3	chr11:34199200-34209800	Weak transcription	A549	lung
4	chr11:34202400-34214600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr11:34203000-34224800	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr11:34203400-34228200	Weak transcription	Psoas Muscle	Psoas
7	chr11:34204400-34212000	Weak transcription	GM12878-XiMat	blood
8	chr11:34204800-34209000	Enhancers	Fetal Stomach	stomach
9	chr11:34205200-34209000	Enhancers	Fetal Muscle Leg	muscle
10	chr11:34205800-34208600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:34206000-34208800	Enhancers	Brain Hippocampus Middle	brain
12	chr11:34206000-34211200	Enhancers	H1 Cell Line	embryonic stem cell
13	chr11:34206200-34214000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr11:34206400-34209800	Weak transcription	Pancreas	Pancrea
15	chr11:34206400-34214200	Weak transcription	Ovary	ovary
16	chr11:34206600-34208800	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr11:34206600-34209200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:34206800-34208600	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr11:34206800-34209000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:34206800-34210200	Weak transcription	Fetal Kidney	kidney
21	chr11:34206800-34210600	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr11:34206800-34210600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr11:34207000-34208400	Enhancers	NHEK	skin
24	chr11:34207000-34208800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr11:34207000-34209000	Enhancers	Fetal Brain Male	brain
26	chr11:34207000-34210200	Weak transcription	Liver	Liver
27	chr11:34207000-34210800	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr11:34207000-34218000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr11:34207200-34208200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr11:34207200-34208400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr11:34207200-34208400	Enhancers	HMEC	breast
32	chr11:34207200-34208600	Enhancers	Stomach Smooth Muscle	stomach
33	chr11:34207200-34210800	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr11:34207200-34226000	Weak transcription	Gastric	stomach
35	chr11:34207400-34208400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr11:34207400-34208400	Enhancers	Brain Cingulate Gyrus	brain
37	chr11:34207400-34208400	Enhancers	HSMMtube	muscle
38	chr11:34207400-34208600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr11:34207400-34208600	Enhancers	Brain Anterior Caudate	brain
40	chr11:34207400-34208600	Enhancers	Placenta	Placenta
41	chr11:34207400-34208800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr11:34207400-34209000	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr11:34207400-34210800	Enhancers	Fetal Lung	lung
44	chr11:34207600-34208200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr11:34207600-34208200	Enhancers	Adipose Nuclei	Adipose
46	chr11:34207600-34208200	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr11:34207600-34208400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr11:34207600-34208400	Enhancers	Brain Angular Gyrus	brain
49	chr11:34207600-34208400	Enhancers	Left Ventricle	heart
50	chr11:34207600-34208600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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