Variant report

Variant	rs6836544
Chromosome Location	chr4:122726073-122726074
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:122720772..122725008-chr4:122725244..122729002,8	K562	blood:

Variant related genes	Relation type
ENSG00000123737	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1051881	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1803183	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs3217767	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[ASN][1000 genomes]
rs3749475	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs4075713	1.00[CHD][hapmap]
rs4077754	1.00[ASN][1000 genomes]
rs55685419	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55803709	1.00[ASN][1000 genomes]
rs55936221	1.00[ASN][1000 genomes]
rs56030020	1.00[ASN][1000 genomes]
rs56221685	1.00[ASN][1000 genomes]
rs56300111	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56370449	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs57779372	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58745264	1.00[ASN][1000 genomes]
rs58921436	0.90[ASN][1000 genomes]
rs59268194	1.00[ASN][1000 genomes]
rs60240575	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61180375	1.00[ASN][1000 genomes]
rs61434837	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61665948	1.00[ASN][1000 genomes]
rs6823340	1.00[ASN][1000 genomes]
rs6825926	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs6830453	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6838343	0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6854295	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs6858061	1.00[ASN][1000 genomes]
rs73844293	1.00[ASN][1000 genomes]
rs73844294	1.00[ASN][1000 genomes]
rs73844297	1.00[ASN][1000 genomes]
rs73844298	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73847203	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73847204	1.00[ASN][1000 genomes]
rs73847205	0.91[ASN][1000 genomes]
rs73847206	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7684547	0.83[ASN][1000 genomes]
rs769243	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs769245	1.00[CEU][hapmap]
rs7694815	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv817261	chr4:122085173-123020068	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv997539	chr4:122544104-123274266	Genic enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv530157	chr4:122557302-123248756	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	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	chr4:122723000-122726200	Weak transcription	Spleen	Spleen
2	chr4:122723000-122729600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:122723000-122733400	Weak transcription	Pancreas	Pancrea
4	chr4:122723000-122743600	Weak transcription	Esophagus	oesophagus
5	chr4:122723000-122743600	Weak transcription	Small Intestine	intestine
6	chr4:122723000-122744200	Weak transcription	Gastric	stomach
7	chr4:122723000-122744600	Weak transcription	Aorta	Aorta
8	chr4:122723200-122729200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr4:122723200-122731400	Weak transcription	Right Ventricle	heart
10	chr4:122723200-122737000	Weak transcription	Colonic Mucosa	Colon
11	chr4:122723200-122741800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr4:122723200-122743400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr4:122723200-122743600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr4:122723200-122743800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr4:122723400-122727200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr4:122723400-122729400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr4:122723400-122744200	Weak transcription	Stomach Mucosa	stomach
18	chr4:122723600-122727600	Weak transcription	Fetal Brain Male	brain
19	chr4:122723600-122728800	Weak transcription	HUVEC	blood vessel
20	chr4:122723600-122732400	Weak transcription	Psoas Muscle	Psoas
21	chr4:122723600-122742200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:122723600-122742400	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr4:122723600-122742800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr4:122723800-122726600	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr4:122723800-122727400	Strong transcription	Brain Germinal Matrix	brain
26	chr4:122723800-122733000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr4:122723800-122734000	Strong transcription	Left Ventricle	heart
28	chr4:122723800-122736400	Strong transcription	Fetal Muscle Leg	muscle
29	chr4:122723800-122739400	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr4:122723800-122739600	Strong transcription	Primary B cells from peripheral blood	blood
31	chr4:122723800-122739600	Strong transcription	Liver	Liver
32	chr4:122723800-122740000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr4:122723800-122740000	Strong transcription	Osteobl	bone
34	chr4:122723800-122740400	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr4:122723800-122740400	Strong transcription	Fetal Intestine Large	intestine
36	chr4:122723800-122740600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr4:122723800-122741800	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr4:122723800-122742200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr4:122723800-122742400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr4:122723800-122743000	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr4:122723800-122743000	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr4:122723800-122743000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr4:122724000-122726400	Strong transcription	H9 Cell Line	embryonic stem cell
44	chr4:122724000-122726400	Strong transcription	HSMMtube	muscle
45	chr4:122724000-122726600	Strong transcription	Primary hematopoietic stem cells	blood
46	chr4:122724000-122726600	Strong transcription	Skeletal Muscle Female	skeletal muscle
47	chr4:122724000-122727200	Strong transcription	Brain Inferior Temporal Lobe	brain
48	chr4:122724000-122727800	Strong transcription	Skeletal Muscle Male	skeletal muscle
49	chr4:122724000-122729200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr4:122724000-122730200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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