Variant report

Variant	rs11941285
Chromosome Location	chr4:77113781-77113782
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:77108730..77110793-chr4:77112512..77115192,2	K562	blood:
2	chr4:77112114..77114114-chr4:77116048..77119897,3	K562	blood:

Variant related genes	Relation type
ENSG00000138760	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11934628	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11938219	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11944780	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17001553	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17001556	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17001644	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17001645	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17001647	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17001648	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17001649	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2228380	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28655570	1.00[EUR][1000 genomes]
rs34078946	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34647444	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34865218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35211143	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35634209	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35866970	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4129291	1.00[AMR][1000 genomes]
rs56891967	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58990415	1.00[EUR][1000 genomes]
rs59199771	1.00[EUR][1000 genomes]
rs59815580	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59876319	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60319873	1.00[EUR][1000 genomes]
rs60541751	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60744184	1.00[EUR][1000 genomes]
rs61079077	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61313750	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6832579	1.00[EUR][1000 genomes]
rs7672121	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs999358	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs999359	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461558	chr4:77033725-77115553	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv594694	chr4:77033725-77115553	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:77090200-77114800	Weak transcription	Hela-S3	cervix
2	chr4:77091000-77114200	Weak transcription	HMEC	breast
3	chr4:77094400-77113800	Weak transcription	Fetal Thymus	thymus
4	chr4:77096800-77114000	Weak transcription	Small Intestine	intestine
5	chr4:77097400-77115000	Weak transcription	NH-A	brain
6	chr4:77097600-77119600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr4:77101400-77114200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr4:77104600-77113800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr4:77105600-77115000	Weak transcription	Fetal Heart	heart
10	chr4:77107800-77114000	Weak transcription	HUVEC	blood vessel
11	chr4:77107800-77114200	Weak transcription	Right Atrium	heart
12	chr4:77107800-77114800	Weak transcription	Colonic Mucosa	Colon
13	chr4:77109600-77113800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr4:77109800-77117400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr4:77110000-77114200	Strong transcription	Fetal Muscle Trunk	muscle
16	chr4:77110200-77113800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr4:77110200-77114200	Weak transcription	Right Ventricle	heart
18	chr4:77110200-77114400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr4:77110200-77117000	Strong transcription	Primary T cells from cord blood	blood
20	chr4:77110400-77114600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr4:77110600-77116600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr4:77111000-77118000	Strong transcription	Duodenum Mucosa	Duodenum
23	chr4:77111200-77115200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr4:77111400-77114400	Strong transcription	Placenta	Placenta
25	chr4:77111400-77115000	Strong transcription	Muscle Satellite Cultured Cells	--
26	chr4:77111600-77114200	Weak transcription	Psoas Muscle	Psoas
27	chr4:77111600-77114600	Strong transcription	Osteobl	bone
28	chr4:77112000-77114600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr4:77112000-77115000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr4:77112200-77114800	Strong transcription	NHLF	lung
31	chr4:77112400-77114000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr4:77112400-77114000	Strong transcription	Brain Hippocampus Middle	brain
33	chr4:77112400-77114400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
34	chr4:77112400-77114400	ZNF genes & repeats	Brain Germinal Matrix	brain
35	chr4:77112400-77114600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr4:77112400-77114600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
37	chr4:77112400-77114600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr4:77112400-77114800	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr4:77112400-77115200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
40	chr4:77112400-77115200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr4:77112400-77115400	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr4:77112400-77117000	Genic enhancers	Brain Substantia Nigra	brain
43	chr4:77112600-77113800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr4:77112600-77114000	Strong transcription	Skeletal Muscle Male	skeletal muscle
45	chr4:77112600-77114200	Strong transcription	Ovary	ovary
46	chr4:77112600-77114400	ZNF genes & repeats	Fetal Intestine Small	intestine
47	chr4:77112600-77114600	Strong transcription	Pancreatic Islets	Pancreatic Islet
48	chr4:77112600-77114800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
49	chr4:77112600-77114800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr4:77112600-77115000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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