Variant report

Variant	rs11808614
Chromosome Location	chr1:9951288-9951289
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:9944553..9946142-chr1:9950207..9953105,2	K562	blood:
2	chr1:9950543..9952376-chr1:9989570..9991778,2	K562	blood:
3	chr1:9949753..9951376-chr1:9968625..9970259,2	MCF-7	breast:
4	chr1:9942393..9946053-chr1:9949993..9953105,3	K562	blood:
5	chr1:9950314..9954439-chr1:9967446..9971626,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000178585	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs57237552	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61785591	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61785593	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61785598	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6541067	0.95[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6659441	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6686017	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6690524	0.93[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74054125	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74054138	0.83[AMR][1000 genomes]
rs7529783	0.83[AMR][1000 genomes]
rs7536748	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7537879	0.93[ASW][hapmap];0.91[LWK][hapmap];0.93[MKK][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7554923	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs946276	1.00[MEX][hapmap];0.81[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3385337	chr1:9105242-10082223	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	549 gene(s)	inside rSNPs	diseases
2	nsv871610	chr1:9655795-10008221	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	esv3372906	chr1:9838995-10052992	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv871146	chr1:9897001-9951288	Genic enhancers Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv545380	chr1:9918183-9987007	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv1012469	chr1:9925714-10147796	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9932600-9960200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr1:9935600-9960800	Weak transcription	Fetal Intestine Large	intestine
3	chr1:9936400-9960200	Weak transcription	Liver	Liver
4	chr1:9938600-9952800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr1:9940800-9952400	Strong transcription	Fetal Intestine Small	intestine
6	chr1:9943000-9960200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr1:9943200-9961600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr1:9943600-9960800	Weak transcription	Primary T cells from cord blood	blood
9	chr1:9947000-9952000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr1:9947000-9953600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr1:9948200-9955400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:9948600-9951400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:9948600-9951600	Enhancers	H1 Cell Line	embryonic stem cell
14	chr1:9948600-9951600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:9948600-9951600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:9948600-9951600	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr1:9948600-9951600	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr1:9948600-9951800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr1:9948600-9951800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:9948600-9952800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:9948600-9954600	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr1:9948600-9954800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:9948800-9951400	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr1:9948800-9951600	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr1:9948800-9951600	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr1:9948800-9951600	Enhancers	Placenta Amnion	Placenta Amnion
27	chr1:9948800-9951800	Enhancers	Fetal Muscle Trunk	muscle
28	chr1:9948800-9951800	Enhancers	Right Atrium	heart
29	chr1:9948800-9953400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr1:9948800-9953800	Enhancers	Placenta	Placenta
31	chr1:9948800-9954200	Enhancers	Fetal Thymus	thymus
32	chr1:9948800-9954400	Enhancers	Adipose Nuclei	Adipose
33	chr1:9948800-9954800	Enhancers	Primary hematopoietic stem cells	blood
34	chr1:9949000-9951600	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr1:9949000-9953000	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr1:9949200-9951800	Enhancers	Esophagus	oesophagus
37	chr1:9949200-9952000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr1:9949200-9952000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr1:9949200-9952000	Enhancers	NHLF	lung
40	chr1:9949400-9951600	Enhancers	Psoas Muscle	Psoas
41	chr1:9949400-9951600	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr1:9949400-9951800	Enhancers	Right Ventricle	heart
43	chr1:9949400-9952800	Enhancers	HUVEC	blood vessel
44	chr1:9949400-9967600	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr1:9949600-9951600	Enhancers	Fetal Lung	lung
46	chr1:9949600-9951600	Enhancers	Stomach Mucosa	stomach
47	chr1:9949600-9951600	Enhancers	Hela-S3	cervix
48	chr1:9949600-9951800	Enhancers	Left Ventricle	heart
49	chr1:9949600-9953200	Enhancers	Lung	lung
50	chr1:9949800-9951600	Enhancers	Fetal Stomach	stomach

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