Variant report

Variant	rs6810606
Chromosome Location	chr4:87951662-87951663
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:87944178..87948145-chr4:87950244..87953545,6	K562	blood:
2	chr4:87924739..87931529-chr4:87944789..87955863,16	K562	blood:
3	chr4:87946350..87948006-chr4:87951593..87953106,2	MCF-7	breast:
4	chr4:87944954..87950016-chr4:87950159..87955839,10	K562	blood:
5	chr4:87950378..87952064-chr4:87953827..87955577,2	MCF-7	breast:
6	chr4:87926723..87929502-chr4:87950750..87952637,2	MCF-7	breast:
7	chr4:87926472..87930256-chr4:87951394..87957719,6	K562	blood:
8	chr20:46131389..46132897-chr4:87950078..87952930,2	MCF-7	breast:
9	chr4:87854933..87857678-chr4:87950865..87954006,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000163633	Chromatin interaction
ENSG00000172493	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1048482	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11937693	1.00[AMR][1000 genomes]
rs11943683	0.86[YRI][hapmap];0.81[AFR][1000 genomes]
rs11945169	0.91[YRI][hapmap];0.81[AFR][1000 genomes]
rs17012253	0.83[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17012255	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6810840	0.93[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6827682	0.83[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6831823	0.91[YRI][hapmap];0.84[AFR][1000 genomes]
rs6833094	0.93[YRI][hapmap]
rs6850907	0.81[AFR][1000 genomes]
rs6851927	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6857010	0.93[YRI][hapmap];0.81[AFR][1000 genomes]
rs729984	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7671609	0.86[YRI][hapmap]
rs7677039	0.92[YRI][hapmap]
rs7677287	0.93[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009937	chr4:87795314-88008345	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
2	nsv999176	chr4:87869996-88098136	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv998335	chr4:87869996-88104414	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1001017	chr4:87872160-88087003	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv537166	chr4:87872160-88087003	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv999098	chr4:87899091-88016048	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv537167	chr4:87899091-88016048	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv997750	chr4:87933945-88264127	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87937000-87951800	Weak transcription	NHEK	skin
2	chr4:87937000-87952000	Weak transcription	HMEC	breast
3	chr4:87944200-87951800	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr4:87944200-87951800	Enhancers	K562	blood
5	chr4:87944200-87953000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr4:87944200-87960800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr4:87944800-87961600	Enhancers	Fetal Heart	heart
8	chr4:87945000-87951800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr4:87945600-87952000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr4:87946600-87952000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr4:87947000-87952000	Enhancers	Rectal Smooth Muscle	rectum
12	chr4:87947200-87952000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr4:87947200-87952000	Weak transcription	Gastric	stomach
14	chr4:87947800-87951800	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr4:87947800-87951800	Enhancers	Colon Smooth Muscle	Colon
16	chr4:87947800-87951800	Weak transcription	Esophagus	oesophagus
17	chr4:87947800-87952000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr4:87947800-87952000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr4:87947800-87952000	Weak transcription	Lung	lung
20	chr4:87947800-87957200	Weak transcription	Dnd41	blood
21	chr4:87948000-87951800	Weak transcription	HepG2	liver
22	chr4:87948000-87954200	Weak transcription	A549	lung
23	chr4:87948400-87951800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr4:87948600-87951800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:87948600-87951800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr4:87948600-87951800	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr4:87948800-87952000	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr4:87949200-87951800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr4:87949200-87952000	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr4:87949200-87952000	Weak transcription	Primary B cells from peripheral blood	blood
31	chr4:87949200-87957400	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr4:87949200-87961000	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr4:87949400-87960600	Enhancers	Liver	Liver
34	chr4:87949600-87954000	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr4:87949600-87955600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr4:87949600-87960800	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr4:87949800-87951800	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr4:87949800-87951800	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr4:87949800-87951800	Enhancers	Brain Hippocampus Middle	brain
40	chr4:87949800-87952400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr4:87949800-87953200	Enhancers	HUVEC	blood vessel
42	chr4:87949800-87957400	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr4:87949800-87960800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr4:87950000-87951800	Enhancers	Ovary	ovary
45	chr4:87950000-87952000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr4:87950000-87952200	Enhancers	Right Atrium	heart
47	chr4:87950000-87952400	Enhancers	Pancreas	Pancrea
48	chr4:87950000-87952400	Enhancers	Spleen	Spleen
49	chr4:87950000-87952600	Enhancers	Right Ventricle	heart
50	chr4:87950000-87953200	Enhancers	Duodenum Mucosa	Duodenum

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