Variant report

Variant	rs6663532
Chromosome Location	chr1:9806351-9806352
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:9799251..9800948-chr1:9805538..9808138,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12059243	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12072320	0.87[AMR][1000 genomes]
rs12083192	0.80[AFR][1000 genomes]
rs12083800	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12084163	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs12087408	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12092457	0.81[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12094930	0.87[AMR][1000 genomes]
rs12096905	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12354258	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs12354385	0.92[AFR][1000 genomes]
rs6658971	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7514164	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv832203	chr1:9726632-9860209	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS 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	15 gene(s)	inside rSNPs	diseases
5	esv3344647	chr1:9806177-9806489	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9750600-9813000	Weak transcription	Right Atrium	heart
2	chr1:9781200-9813200	Strong transcription	Stomach Smooth Muscle	stomach
3	chr1:9784000-9815400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:9784200-9807400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:9784200-9815800	Strong transcription	Fetal Intestine Small	intestine
6	chr1:9786400-9814000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr1:9786600-9807000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:9786600-9807000	Strong transcription	HepG2	liver
9	chr1:9786600-9815200	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr1:9786800-9807200	Strong transcription	Placenta	Placenta
11	chr1:9786800-9814000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:9787000-9807000	Strong transcription	H1 Cell Line	embryonic stem cell
13	chr1:9787000-9813000	Weak transcription	Fetal Heart	heart
14	chr1:9787200-9806800	Strong transcription	Duodenum Smooth Muscle	Duodenum
15	chr1:9787200-9807200	Strong transcription	Fetal Muscle Leg	muscle
16	chr1:9787400-9806400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr1:9787400-9807000	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr1:9787400-9807200	Strong transcription	Left Ventricle	heart
19	chr1:9787400-9807200	Strong transcription	Sigmoid Colon	Sigmoid Colon
20	chr1:9787400-9811800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr1:9787600-9807400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:9787600-9812000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:9787600-9813200	Strong transcription	Fetal Muscle Trunk	muscle
24	chr1:9787600-9815200	Strong transcription	Duodenum Mucosa	Duodenum
25	chr1:9788000-9807000	Strong transcription	NHEK	skin
26	chr1:9788400-9807400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr1:9788400-9811800	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr1:9789800-9815400	Strong transcription	Fetal Thymus	thymus
29	chr1:9789800-9815800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr1:9790600-9815400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr1:9791600-9814200	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr1:9791600-9816000	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr1:9792000-9815600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr1:9792600-9811000	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr1:9793000-9810000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr1:9793000-9811800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr1:9793400-9813200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:9793800-9807200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr1:9793800-9815200	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr1:9794000-9807200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:9794000-9815600	Strong transcription	Fetal Stomach	stomach
42	chr1:9794200-9807200	Strong transcription	Primary B cells from cord blood	blood
43	chr1:9794200-9807200	Strong transcription	Primary B cells from peripheral blood	blood
44	chr1:9794200-9807200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr1:9794200-9815600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr1:9794200-9815800	Strong transcription	Thymus	Thymus
47	chr1:9794800-9809600	Weak transcription	NHDF-Ad	bronchial
48	chr1:9795400-9806400	Strong transcription	HMEC	breast
49	chr1:9797600-9814400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr1:9798000-9807200	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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