Variant report

Variant	rs12644911
Chromosome Location	chr4:76404071-76404072
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	chr4:76398393..76400308-chr4:76403979..76406011,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10518140	0.82[ASN][1000 genomes]
rs11099546	0.86[EUR][1000 genomes]
rs11722278	0.82[AFR][1000 genomes]
rs11727259	0.90[EUR][1000 genomes]
rs11727806	0.81[AFR][1000 genomes]
rs11727923	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11729106	0.82[ASN][1000 genomes]
rs11731477	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11732511	0.82[ASN][1000 genomes]
rs12648354	0.81[ASN][1000 genomes]
rs1351094	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17278571	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2126854	0.81[AFR][1000 genomes]
rs2306177	0.81[ASN][1000 genomes]
rs2867919	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28785287	0.94[EUR][1000 genomes]
rs2903701	0.81[ASN][1000 genomes]
rs57275697	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6836107	0.82[ASN][1000 genomes]
rs6845588	0.81[ASN][1000 genomes]
rs6847297	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6851699	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][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	nsv594687	chr4:76154064-76502748	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers 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	27 gene(s)	inside rSNPs	diseases
2	nsv534570	chr4:76214619-76498362	ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12644911	RCHY1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76392600-76434800	Weak transcription	Gastric	stomach
2	chr4:76394000-76406200	Weak transcription	Colon Smooth Muscle	Colon
3	chr4:76394000-76406600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr4:76394600-76424600	Weak transcription	Right Ventricle	heart
5	chr4:76395400-76405200	Weak transcription	Fetal Heart	heart
6	chr4:76395600-76405800	Weak transcription	Brain Germinal Matrix	brain
7	chr4:76395800-76406600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr4:76395800-76437000	Weak transcription	Aorta	Aorta
9	chr4:76395800-76437000	Weak transcription	Lung	lung
10	chr4:76395800-76437000	Weak transcription	Pancreas	Pancrea
11	chr4:76396200-76424400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr4:76396200-76437000	Weak transcription	Esophagus	oesophagus
13	chr4:76397000-76405200	Weak transcription	NHEK	skin
14	chr4:76397200-76405200	Weak transcription	Left Ventricle	heart
15	chr4:76397200-76414600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr4:76397800-76437000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr4:76398200-76405600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr4:76398200-76415800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr4:76398200-76434200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr4:76398400-76407400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr4:76398600-76405600	Weak transcription	NHLF	lung
22	chr4:76398800-76437200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr4:76399400-76434400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr4:76400600-76437000	Weak transcription	Spleen	Spleen
25	chr4:76400800-76404800	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr4:76400800-76405200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr4:76400800-76405200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr4:76400800-76405600	Weak transcription	Fetal Muscle Trunk	muscle
29	chr4:76400800-76406600	Weak transcription	HMEC	breast
30	chr4:76400800-76409200	Weak transcription	Thymus	Thymus
31	chr4:76401000-76405400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr4:76401000-76405400	Weak transcription	Colonic Mucosa	Colon
33	chr4:76401000-76406600	Weak transcription	Hela-S3	cervix
34	chr4:76401000-76410800	Weak transcription	HSMMtube	muscle
35	chr4:76401000-76436200	Weak transcription	Brain Angular Gyrus	brain
36	chr4:76401200-76405200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr4:76401200-76405200	Weak transcription	Brain Substantia Nigra	brain
38	chr4:76401200-76406000	Weak transcription	Fetal Brain Male	brain
39	chr4:76401200-76406400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr4:76401200-76409200	Weak transcription	Rectal Smooth Muscle	rectum
41	chr4:76401200-76410800	Weak transcription	Stomach Mucosa	stomach
42	chr4:76401200-76411400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr4:76401800-76404200	Strong transcription	Fetal Lung	lung
44	chr4:76401800-76412400	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr4:76402000-76411600	Strong transcription	HSMM	muscle
46	chr4:76402000-76412200	Strong transcription	Adipose Nuclei	Adipose
47	chr4:76402000-76418600	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr4:76402200-76404200	ZNF genes & repeats	Primary T cells from cord blood	blood
49	chr4:76402200-76404400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr4:76402200-76404400	Strong transcription	Stomach Smooth Muscle	stomach

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