Variant report

Variant	rs9295901
Chromosome Location	chr6:30639157-30639158
allele	C/G
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30572488..30575040-chr6:30638156..30640619,2	K562	blood:
2	chr6:30634661..30668428-chr6:30680318..30698953,145	MCF-7	breast:
3	chr6:30612907..30616336-chr6:30637849..30642816,6	MCF-7	breast:
4	chr6:30619664..30622989-chr6:30637917..30640970,3	MCF-7	breast:
5	chr6:30638422..30642374-chr6:30687329..30691225,7	MCF-7	breast:
6	chr6:30581230..30587315-chr6:30638443..30644329,12	MCF-7	breast:
7	chr6:30634862..30637551-chr6:30637631..30639173,2	K562	blood:
8	chr6:30577127..30589352-chr6:30620628..30648657,88	K562	blood:
9	chr6:30613067..30618740-chr6:30634507..30640371,8	K562	blood:
10	chr6:30579823..30587267-chr6:30636296..30642513,15	MCF-7	breast:
11	chr6:30639079..30642784-chr6:30705636..30712325,12	MCF-7	breast:
12	chr6:30523729..30526402-chr6:30638868..30641840,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000204568	Chromatin interaction
ENSG00000204576	Chromatin interaction
ENSG00000272273	Chromatin interaction
ENSG00000204590	Chromatin interaction
ENSG00000196230	Chromatin interaction
ENSG00000137337	Chromatin interaction
ENSG00000204564	Chromatin interaction
ENSG00000272540	Chromatin interaction
ENSG00000137312	Chromatin interaction
ENSG00000222894	Chromatin interaction
ENSG00000204569	Chromatin interaction
ENSG00000266183	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1079687	0.92[ASN][1000 genomes]
rs1109146	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16867852	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16897781	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16897791	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2075015	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2239886	0.86[ASN][1000 genomes]
rs2269702	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2269707	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2285321	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2394392	0.92[ASN][1000 genomes]
rs28986465	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3094090	0.84[ASN][1000 genomes]
rs3132595	0.92[ASN][1000 genomes]
rs3132608	0.92[ASN][1000 genomes]
rs59378621	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61486053	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6924270	0.86[ASN][1000 genomes]
rs6929626	0.86[ASN][1000 genomes]
rs6929698	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6931293	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6937357	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7762626	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9295902	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9295904	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9295905	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9295908	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9295909	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9461620	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9461622	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9461623	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9461624	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9468803	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9468805	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9468807	0.96[ASN][1000 genomes]
rs9468811	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9468813	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9468814	0.86[ASN][1000 genomes]
rs9501338	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9501481	0.86[ASN][1000 genomes]
rs9501482	0.86[ASN][1000 genomes]
rs9501483	0.93[ASN][1000 genomes]
rs9501484	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]

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	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
2	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
4	esv3430377	chr6:30443802-30814426	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	967 gene(s)	inside rSNPs	diseases
5	nsv884086	chr6:30462084-30672757	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	798 gene(s)	inside rSNPs	diseases
6	nsv830626	chr6:30558064-30732905	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	406 gene(s)	inside rSNPs	diseases
7	nsv884094	chr6:30637998-30660611	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
8	nsv823472	chr6:30638581-30644218	Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 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	chr6:30616200-30639800	Weak transcription	Right Atrium	heart
2	chr6:30617400-30639200	Strong transcription	Fetal Muscle Leg	muscle
3	chr6:30630800-30639600	Weak transcription	Small Intestine	intestine
4	chr6:30633000-30639800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr6:30633400-30639600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr6:30633600-30639600	Weak transcription	Psoas Muscle	Psoas
7	chr6:30633600-30639800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr6:30633800-30640000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:30634200-30640000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr6:30635600-30639200	Strong transcription	NHEK	skin
11	chr6:30635800-30639600	Weak transcription	Fetal Brain Male	brain
12	chr6:30637400-30639200	Strong transcription	Cortex derived primary cultured neurospheres	brain
13	chr6:30637400-30639200	Strong transcription	Brain Substantia Nigra	brain
14	chr6:30637600-30639200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr6:30638000-30639200	Genic enhancers	Fetal Brain Female	brain
16	chr6:30638200-30639200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr6:30638200-30639200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
18	chr6:30638400-30639200	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr6:30638400-30639200	Genic enhancers	Primary T cells fromperipheralblood	blood
20	chr6:30638400-30639200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr6:30638400-30639200	Genic enhancers	Spleen	Spleen
22	chr6:30638400-30639200	Genic enhancers	Dnd41	blood
23	chr6:30638600-30639200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr6:30638600-30639400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr6:30638600-30639400	Weak transcription	HUVEC	blood vessel
26	chr6:30638600-30639600	Genic enhancers	Fetal Stomach	stomach
27	chr6:30638600-30639800	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr6:30638600-30639800	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr6:30638600-30639800	Weak transcription	Fetal Kidney	kidney
30	chr6:30638800-30639200	Genic enhancers	Primary monocytes fromperipheralblood	blood
31	chr6:30638800-30639200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr6:30638800-30639200	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr6:30638800-30639200	Weak transcription	Colonic Mucosa	Colon
34	chr6:30638800-30639200	Weak transcription	Pancreas	Pancrea
35	chr6:30638800-30639200	Genic enhancers	GM12878-XiMat	blood
36	chr6:30638800-30639400	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr6:30638800-30639400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr6:30638800-30639400	Weak transcription	Brain Angular Gyrus	brain
39	chr6:30638800-30639400	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr6:30638800-30639400	Weak transcription	Osteobl	bone
41	chr6:30638800-30639600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr6:30638800-30639600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr6:30638800-30639600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr6:30638800-30639600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr6:30638800-30639600	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr6:30638800-30639600	Enhancers	Primary neutrophils fromperipheralblood	blood
47	chr6:30638800-30639600	Weak transcription	Esophagus	oesophagus
48	chr6:30638800-30639600	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr6:30638800-30639600	Weak transcription	HSMM	muscle
50	chr6:30638800-30639600	Enhancers	K562	blood

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