Variant report

Variant	rs11165722
Chromosome Location	chr1:97261262-97261263
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:97253331..97255735-chr1:97258859..97262551,4	K562	blood:
2	chr1:97260529..97262425-chr1:97279371..97282004,2	K562	blood:
3	chr1:97242185..97244565-chr1:97259946..97261881,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12069444	1.00[AMR][1000 genomes]
rs12082415	1.00[AMR][1000 genomes]
rs12091200	1.00[AMR][1000 genomes]
rs290823	1.00[AMR][1000 genomes]
rs55890675	1.00[AMR][1000 genomes]
rs59996661	1.00[AMR][1000 genomes]
rs74104255	1.00[AMR][1000 genomes]
rs74104256	1.00[AMR][1000 genomes]
rs74104257	1.00[AMR][1000 genomes]
rs74104259	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830681	chr1:97165786-97338064	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
2	esv1797391	chr1:97188394-97293023	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
3	esv1801594	chr1:97188394-97293023	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:97200800-97282800	Weak transcription	Spleen	Spleen
2	chr1:97213800-97281400	Weak transcription	Right Ventricle	heart
3	chr1:97218800-97278800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr1:97219000-97271600	Weak transcription	Esophagus	oesophagus
5	chr1:97219000-97283200	Weak transcription	Aorta	Aorta
6	chr1:97219000-97291200	Weak transcription	Pancreas	Pancrea
7	chr1:97219600-97283600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr1:97219800-97270200	Weak transcription	NHEK	skin
9	chr1:97221600-97277000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:97228600-97277000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:97228600-97289400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:97229200-97262400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:97229200-97267200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:97229400-97264800	Strong transcription	Dnd41	blood
15	chr1:97238400-97262800	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr1:97238600-97263400	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr1:97239000-97262200	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr1:97239200-97263400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr1:97239600-97267000	Weak transcription	Fetal Intestine Small	intestine
20	chr1:97240200-97282800	Weak transcription	Brain Germinal Matrix	brain
21	chr1:97240600-97271800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:97240600-97292400	Weak transcription	Lung	lung
23	chr1:97240800-97281400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr1:97241200-97271800	Weak transcription	Fetal Heart	heart
25	chr1:97242000-97263400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr1:97243000-97263200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr1:97246400-97262600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr1:97246600-97268200	Weak transcription	Colon Smooth Muscle	Colon
29	chr1:97246600-97271800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr1:97246600-97271800	Weak transcription	A549	lung
31	chr1:97246800-97269600	Weak transcription	Rectal Smooth Muscle	rectum
32	chr1:97246800-97284000	Weak transcription	Ovary	ovary
33	chr1:97247000-97269600	Weak transcription	Brain Anterior Caudate	brain
34	chr1:97247000-97271400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr1:97247200-97271600	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr1:97247200-97278600	Weak transcription	Psoas Muscle	Psoas
37	chr1:97247400-97269200	Weak transcription	Brain Cingulate Gyrus	brain
38	chr1:97247400-97271800	Weak transcription	Stomach Smooth Muscle	stomach
39	chr1:97249200-97271400	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr1:97249600-97278200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr1:97250400-97261400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr1:97251200-97270200	Weak transcription	HSMMtube	muscle
43	chr1:97251600-97271400	Weak transcription	HMEC	breast
44	chr1:97251600-97272600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr1:97252000-97269400	Weak transcription	Brain Hippocampus Middle	brain
46	chr1:97252000-97271600	Weak transcription	K562	blood
47	chr1:97252200-97271600	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr1:97252200-97283200	Weak transcription	Fetal Brain Male	brain
49	chr1:97252600-97277200	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr1:97252600-97279000	Weak transcription	Fetal Kidney	kidney

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