Variant report

Variant	rs7639434
Chromosome Location	chr3:46023430-46023431
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	chr3:46022722..46024858-chr3:46024939..46027896,2	K562	blood:
2	chr3:46021917..46024700-chr3:46027716..46030169,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163820	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs55974021	1.00[AMR][1000 genomes]
rs56759414	1.00[AMR][1000 genomes]
rs58972711	1.00[AMR][1000 genomes]
rs61398108	1.00[AMR][1000 genomes]
rs61441959	1.00[AMR][1000 genomes]
rs73830667	0.87[AFR][1000 genomes]
rs73830672	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830714	1.00[AMR][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	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv498008	chr3:45733423-46319401	Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv876736	chr3:45900621-46027410	Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	esv2756987	chr3:46016464-46120400	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	esv2759145	chr3:46016464-46120400	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:45981600-46025000	Strong transcription	Fetal Intestine Large	intestine
2	chr3:45986400-46026600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr3:45986600-46026800	Strong transcription	HUES48 Cell Line	embryonic stem cell
4	chr3:45987200-46027200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:45987400-46026600	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr3:45987800-46026400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr3:45987800-46026800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr3:45987800-46027200	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr3:45988000-46026600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
10	chr3:45996200-46025400	Strong transcription	Liver	Liver
11	chr3:46000000-46029600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr3:46002600-46025000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr3:46002600-46027200	Weak transcription	A549	lung
14	chr3:46007800-46024200	Weak transcription	Fetal Kidney	kidney
15	chr3:46008600-46026400	Strong transcription	Hela-S3	cervix
16	chr3:46009000-46027800	Weak transcription	Fetal Brain Male	brain
17	chr3:46010200-46024200	Strong transcription	Left Ventricle	heart
18	chr3:46010200-46027000	Weak transcription	Fetal Brain Female	brain
19	chr3:46010200-46029600	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr3:46010200-46033000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr3:46013000-46026200	Weak transcription	Brain Germinal Matrix	brain
22	chr3:46013600-46025000	Strong transcription	Fetal Intestine Small	intestine
23	chr3:46013600-46025400	Strong transcription	Fetal Muscle Trunk	muscle
24	chr3:46013600-46025600	Strong transcription	Fetal Stomach	stomach
25	chr3:46013600-46034000	Genic enhancers	Fetal Thymus	thymus
26	chr3:46014000-46025800	Strong transcription	HepG2	liver
27	chr3:46014000-46026400	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr3:46014200-46026000	Strong transcription	Duodenum Smooth Muscle	Duodenum
29	chr3:46015000-46025200	Strong transcription	Placenta	Placenta
30	chr3:46015400-46026400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr3:46015600-46024600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
32	chr3:46015600-46027200	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr3:46015800-46026400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr3:46015800-46026800	Strong transcription	Brain Hippocampus Middle	brain
35	chr3:46015800-46027600	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr3:46016000-46026600	Strong transcription	Primary B cells from peripheral blood	blood
37	chr3:46016200-46027800	Strong transcription	H9 Cell Line	embryonic stem cell
38	chr3:46017600-46024800	Strong transcription	Stomach Smooth Muscle	stomach
39	chr3:46017600-46026200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr3:46018000-46024200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr3:46018000-46025800	Strong transcription	Lung	lung
42	chr3:46018400-46024200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
43	chr3:46018800-46026800	Strong transcription	Primary hematopoietic stem cells	blood
44	chr3:46019200-46024200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr3:46019200-46026800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr3:46019400-46023600	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr3:46019400-46023600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
48	chr3:46019400-46023600	Strong transcription	HUVEC	blood vessel
49	chr3:46019400-46030000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr3:46019600-46026200	Strong transcription	Adipose Nuclei	Adipose

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