Variant report

Variant	rs6830943
Chromosome Location	chr4:56722173-56722174
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:56717893..56722441-chr4:56723240..56726712,5	MCF-7	breast:
2	chr4:56684809..56687044-chr4:56720759..56722719,2	K562	blood:

Variant related genes	Relation type
ENSG00000090989	Chromatin interaction
ENSG00000250821	Chromatin interaction

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

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

rs_ID	r²[population]
rs10014211	0.88[EUR][1000 genomes]
rs1947128	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1947130	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1979063	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2053743	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3213948	0.92[CEU][hapmap];0.90[EUR][1000 genomes]
rs4865041	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7687289	0.92[CEU][hapmap];0.90[EUR][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	esv2755990	chr4:56317136-57143037	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv10496	chr4:56336946-56841137	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv1005845	chr4:56522075-56980357	Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	esv3406311	chr4:56580578-56840877	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv427681	chr4:56651921-56908209	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56719200-56722200	Active TSS	GM12878-XiMat	blood
2	chr4:56720400-56722200	Flanking Active TSS	Dnd41	blood
3	chr4:56720400-56764600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr4:56720600-56722400	Enhancers	Small Intestine	intestine
5	chr4:56720600-56722600	Enhancers	Sigmoid Colon	Sigmoid Colon
6	chr4:56720600-56729000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr4:56720600-56729000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:56720600-56734600	Weak transcription	Lung	lung
9	chr4:56720600-56747400	Weak transcription	Spleen	Spleen
10	chr4:56720800-56722200	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr4:56720800-56722200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr4:56720800-56722400	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr4:56720800-56722600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr4:56720800-56722800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr4:56720800-56723600	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr4:56720800-56723800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr4:56720800-56724600	Weak transcription	Placenta	Placenta
18	chr4:56720800-56725800	Weak transcription	Fetal Muscle Trunk	muscle
19	chr4:56720800-56726000	Weak transcription	Fetal Thymus	thymus
20	chr4:56720800-56734600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr4:56720800-56735200	Weak transcription	Esophagus	oesophagus
22	chr4:56720800-56737200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:56720800-56761800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr4:56721000-56722200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr4:56721000-56722200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr4:56721000-56722200	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr4:56721000-56722400	Enhancers	Brain Hippocampus Middle	brain
28	chr4:56721000-56722400	Enhancers	Thymus	Thymus
29	chr4:56721000-56722400	Enhancers	HepG2	liver
30	chr4:56721000-56722600	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr4:56721000-56722600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr4:56721000-56723600	Weak transcription	Left Ventricle	heart
33	chr4:56721000-56723800	Weak transcription	Primary B cells from peripheral blood	blood
34	chr4:56721000-56724400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr4:56721000-56724400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr4:56721000-56726000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr4:56721000-56726000	Weak transcription	Fetal Muscle Leg	muscle
38	chr4:56721000-56726400	Weak transcription	HSMM	muscle
39	chr4:56721000-56727000	Weak transcription	Right Ventricle	heart
40	chr4:56721000-56729000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr4:56721000-56731400	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr4:56721000-56734600	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr4:56721000-56734600	Weak transcription	Brain Substantia Nigra	brain
44	chr4:56721000-56747400	Weak transcription	Aorta	Aorta
45	chr4:56721200-56722200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr4:56721200-56722200	Enhancers	Fetal Brain Female	brain
47	chr4:56721200-56723400	Weak transcription	Fetal Intestine Large	intestine
48	chr4:56721200-56723600	Weak transcription	Fetal Kidney	kidney
49	chr4:56721200-56723800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr4:56721200-56723800	Weak transcription	iPS-20b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links