Variant report

Variant	rs41462746
Chromosome Location	chr4:122725530-122725531
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:122725289-122726771	K562	blood:	n/a	n/a

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

Variant related genes	Relation type
EXOSC9	TF binding region
ENSG00000123737	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12644087	1.00[ASW][hapmap];0.81[LWK][hapmap];1.00[AMR][1000 genomes]
rs13145213	0.83[LWK][hapmap];0.88[YRI][hapmap]
rs17005256	0.87[YRI][hapmap]
rs2271176	0.88[YRI][hapmap]
rs3217760	1.00[ASW][hapmap];1.00[AMR][1000 genomes]
rs3217782	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3805159	1.00[AMR][1000 genomes]
rs3811742	0.88[YRI][hapmap]
rs4077755	1.00[AMR][1000 genomes]
rs4256243	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.88[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57880593	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58062096	1.00[AMR][1000 genomes]
rs59323263	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59971648	1.00[AMR][1000 genomes]
rs60712265	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61097039	1.00[AMR][1000 genomes]
rs61300303	1.00[AMR][1000 genomes]
rs72919937	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	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	chr4:122723000-122725800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr4:122723000-122726200	Weak transcription	Spleen	Spleen
3	chr4:122723000-122729600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:122723000-122733400	Weak transcription	Pancreas	Pancrea
5	chr4:122723000-122743600	Weak transcription	Esophagus	oesophagus
6	chr4:122723000-122743600	Weak transcription	Small Intestine	intestine
7	chr4:122723000-122744200	Weak transcription	Gastric	stomach
8	chr4:122723000-122744600	Weak transcription	Aorta	Aorta
9	chr4:122723200-122725800	Weak transcription	Brain Substantia Nigra	brain
10	chr4:122723200-122729200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr4:122723200-122731400	Weak transcription	Right Ventricle	heart
12	chr4:122723200-122737000	Weak transcription	Colonic Mucosa	Colon
13	chr4:122723200-122741800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr4:122723200-122743400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr4:122723200-122743600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr4:122723200-122743800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr4:122723400-122727200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr4:122723400-122729400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr4:122723400-122744200	Weak transcription	Stomach Mucosa	stomach
20	chr4:122723600-122725600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr4:122723600-122725800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr4:122723600-122725800	Weak transcription	Brain Hippocampus Middle	brain
23	chr4:122723600-122725800	Weak transcription	Fetal Brain Female	brain
24	chr4:122723600-122725800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr4:122723600-122725800	Weak transcription	A549	lung
26	chr4:122723600-122726000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr4:122723600-122727600	Weak transcription	Fetal Brain Male	brain
28	chr4:122723600-122728800	Weak transcription	HUVEC	blood vessel
29	chr4:122723600-122732400	Weak transcription	Psoas Muscle	Psoas
30	chr4:122723600-122742200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr4:122723600-122742400	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr4:122723600-122742800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr4:122723800-122725600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
34	chr4:122723800-122726600	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr4:122723800-122727400	Strong transcription	Brain Germinal Matrix	brain
36	chr4:122723800-122733000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr4:122723800-122734000	Strong transcription	Left Ventricle	heart
38	chr4:122723800-122736400	Strong transcription	Fetal Muscle Leg	muscle
39	chr4:122723800-122739400	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr4:122723800-122739600	Strong transcription	Primary B cells from peripheral blood	blood
41	chr4:122723800-122739600	Strong transcription	Liver	Liver
42	chr4:122723800-122740000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr4:122723800-122740000	Strong transcription	Osteobl	bone
44	chr4:122723800-122740400	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr4:122723800-122740400	Strong transcription	Fetal Intestine Large	intestine
46	chr4:122723800-122740600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr4:122723800-122741800	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr4:122723800-122742200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr4:122723800-122742400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr4:122723800-122743000	Strong transcription	HUES48 Cell Line	embryonic stem cell

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