Variant report

Variant	rs34073334
Chromosome Location	chr4:99818123-99818124
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	chr4:99815882..99818717-chr4:99847695..99851571,3	K562	blood:

Variant related genes	Relation type
ENSG00000151247	Chromatin interaction
ENSG00000263923	Chromatin interaction
ENSG00000238449	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11722494	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs11727079	0.89[AFR][1000 genomes]
rs11727086	0.89[AFR][1000 genomes]
rs11731092	0.89[AFR][1000 genomes]
rs11735758	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs11736580	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs13107184	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs13110878	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs13115072	0.89[AFR][1000 genomes]
rs13115688	0.89[AFR][1000 genomes]
rs13124855	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs13133934	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs17511498	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs17570252	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs17583053	0.81[AMR][1000 genomes]
rs1992569	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2230574	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs34445885	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs34552530	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs34849916	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs35019647	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs35360485	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs35619083	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs36061550	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs4699369	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs4699689	0.81[AMR][1000 genomes]
rs4699692	0.89[AFR][1000 genomes]
rs62323190	0.81[AMR][1000 genomes]
rs62323206	0.81[AMR][1000 genomes]
rs67650226	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs72692635	0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009017	chr4:99669441-100406394	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv879654	chr4:99748988-99877402	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv879655	chr4:99783733-99843113	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv821288	chr4:99813093-99818986	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv20331	chr4:99813534-99818241	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99792400-99825000	Weak transcription	Gastric	stomach
2	chr4:99796000-99826400	Weak transcription	Right Ventricle	heart
3	chr4:99797000-99826600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr4:99798400-99823000	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr4:99798600-99824400	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr4:99799000-99823000	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr4:99799800-99823200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr4:99800200-99823400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr4:99800400-99823200	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr4:99800600-99824200	Strong transcription	Primary B cells from peripheral blood	blood
11	chr4:99801600-99829400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr4:99802200-99824000	Strong transcription	Primary T helper cells PMA-I stimulated	--
13	chr4:99802600-99823800	Strong transcription	Fetal Thymus	thymus
14	chr4:99802600-99824400	Strong transcription	Dnd41	blood
15	chr4:99802800-99819600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr4:99802800-99824600	Weak transcription	Pancreas	Pancrea
17	chr4:99802800-99830200	Weak transcription	Ovary	ovary
18	chr4:99802800-99849000	Weak transcription	Aorta	Aorta
19	chr4:99803000-99825000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr4:99803200-99824200	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr4:99804400-99848800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr4:99804600-99838400	Weak transcription	Esophagus	oesophagus
23	chr4:99804800-99820600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr4:99805000-99823200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr4:99805200-99832000	Weak transcription	Spleen	Spleen
26	chr4:99807200-99849000	Weak transcription	Colonic Mucosa	Colon
27	chr4:99807400-99822000	Weak transcription	Hela-S3	cervix
28	chr4:99807400-99826400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr4:99807600-99824000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr4:99807800-99822200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr4:99807800-99822400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr4:99807800-99832000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr4:99808000-99822000	Weak transcription	Colon Smooth Muscle	Colon
34	chr4:99808000-99841400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr4:99808400-99819200	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr4:99808600-99821800	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr4:99808600-99822000	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr4:99808600-99830600	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr4:99808600-99849000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr4:99808800-99822400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr4:99809800-99823600	Strong transcription	GM12878-XiMat	blood
42	chr4:99812200-99826400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr4:99812600-99820800	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr4:99812600-99822000	Weak transcription	NHEK	skin
45	chr4:99812600-99823800	Weak transcription	Fetal Heart	heart
46	chr4:99812800-99824400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr4:99813400-99818400	Strong transcription	K562	blood
48	chr4:99813400-99823400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr4:99813400-99825800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr4:99813600-99822200	Strong transcription	A549	lung

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