Variant report

Variant	rs4392947
Chromosome Location	chr8:121423452-121423453
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	chr8:121422783..121424823-chr8:121427898..121430507,2	K562	blood:
2	chr8:121422299..121424823-chr8:121427377..121429398,2	K562	blood:

Variant related genes	Relation type
ENSG00000172172	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10098378	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10808510	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11775273	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12674802	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16893983	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4269581	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4311691	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4442180	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4567082	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4870729	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4871061	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56074613	0.80[AFR][1000 genomes]
rs6999683	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7838344	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9297617	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][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	nsv891420	chr8:121194900-121561369	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv891421	chr8:121292407-121653902	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1033386	chr8:121369943-121501239	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121402000-121456400	Weak transcription	Small Intestine	intestine
2	chr8:121404000-121433400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:121404400-121454400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr8:121404600-121456000	Weak transcription	Colonic Mucosa	Colon
5	chr8:121405000-121456000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr8:121405600-121455600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr8:121407800-121424600	Weak transcription	Brain Angular Gyrus	brain
8	chr8:121407800-121442800	Weak transcription	NHEK	skin
9	chr8:121408200-121450400	Weak transcription	Psoas Muscle	Psoas
10	chr8:121408400-121442800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr8:121409800-121446200	Weak transcription	Right Ventricle	heart
12	chr8:121410200-121456400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr8:121410200-121456600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr8:121410600-121456600	Weak transcription	Gastric	stomach
15	chr8:121410600-121456600	Weak transcription	Spleen	Spleen
16	chr8:121411000-121443600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr8:121411000-121456000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr8:121412600-121450400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr8:121412800-121430600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr8:121412800-121456000	Weak transcription	Fetal Brain Male	brain
21	chr8:121413400-121428400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr8:121413400-121428600	Strong transcription	Dnd41	blood
23	chr8:121413600-121454800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr8:121414400-121424600	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr8:121414600-121432400	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr8:121414800-121426200	Strong transcription	Primary B cells from peripheral blood	blood
27	chr8:121415800-121423600	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr8:121415800-121424800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr8:121415800-121424800	Weak transcription	Left Ventricle	heart
30	chr8:121415800-121425600	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr8:121415800-121436600	Weak transcription	Fetal Muscle Leg	muscle
32	chr8:121415800-121443400	Weak transcription	Brain Germinal Matrix	brain
33	chr8:121415800-121450200	Weak transcription	Pancreas	Pancrea
34	chr8:121415800-121452200	Weak transcription	Fetal Brain Female	brain
35	chr8:121415800-121456400	Weak transcription	Esophagus	oesophagus
36	chr8:121417000-121424600	Weak transcription	HUVEC	blood vessel
37	chr8:121417000-121424800	Weak transcription	Brain Cingulate Gyrus	brain
38	chr8:121417000-121435000	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr8:121417000-121455800	Weak transcription	NHLF	lung
40	chr8:121417000-121456000	Weak transcription	Brain Substantia Nigra	brain
41	chr8:121417000-121456400	Weak transcription	Fetal Kidney	kidney
42	chr8:121417200-121424600	Weak transcription	HMEC	breast
43	chr8:121417200-121426400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr8:121417200-121450400	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr8:121417200-121456000	Weak transcription	Brain Hippocampus Middle	brain
46	chr8:121417200-121456000	Weak transcription	Rectal Smooth Muscle	rectum
47	chr8:121417400-121454200	Weak transcription	HSMMtube	muscle
48	chr8:121417400-121455800	Weak transcription	Aorta	Aorta
49	chr8:121417400-121455800	Weak transcription	Colon Smooth Muscle	Colon
50	chr8:121417600-121424800	Weak transcription	NHDF-Ad	bronchial

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links