Variant report

Variant	rs9480993
Chromosome Location	chr6:110026860-110026861
allele	A/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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:110026144..110026871-chr6:110500143..110501053,2	MCF-7	breast:
2	chr6:109848106..109848779-chr6:110026265..110026944,2	MCF-7	breast:
3	chr6:110026127..110027055-chr6:110711820..110712448,2	MCF-7	breast:
4	chr6:110025954..110027208-chr6:110359665..110362381,41	MCF-7	breast:
5	chr6:110026083..110027087-chr6:110374560..110375697,12	MCF-7	breast:
6	chr6:109917095..109917599-chr6:110026112..110027051,2	MCF-7	breast:
7	chr6:110026295..110027102-chr6:110374620..110375475,7	K562	blood:
8	chr6:109509121..109509682-chr6:110026304..110027085,2	K562	blood:
9	chr6:110026116..110027123-chr6:110104149..110105170,4	MCF-7	breast:
10	chr6:110026617..110027143-chr6:110372925..110373520,2	MCF-7	breast:
11	chr6:110026058..110027053-chr6:110360200..110361829,12	MCF-7	breast:
12	chr6:110024804..110028000-chr6:110359372..110362087,3	MCF-7	breast:
13	chr6:110025993..110027032-chr6:110374302..110375553,10	MCF-7	breast:
14	chr6:110025916..110027085-chr6:110711360..110712730,11	K562	blood:
15	chr6:110026208..110027002-chr6:110360378..110361549,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000112290	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs9372224	0.87[AFR][1000 genomes]
rs9480970	1.00[YRI][hapmap]
rs9480979	1.00[YRI][hapmap]
rs9480989	1.00[AFR][1000 genomes]
rs9480998	1.00[YRI][hapmap]
rs9487144	1.00[YRI][hapmap]
rs9487177	1.00[YRI][hapmap]
rs9487196	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs9487212	1.00[YRI][hapmap]
rs9969050	1.00[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	nsv949475	chr6:109907936-110160501	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv933105	chr6:109933270-110064342	ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv817322	chr6:109933272-110070574	Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv830769	chr6:109944334-110078120	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv604485	chr6:109959269-110054486	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:110013000-110027400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:110013000-110027400	Weak transcription	Spleen	Spleen
3	chr6:110013000-110057000	Weak transcription	Left Ventricle	heart
4	chr6:110013000-110114400	Weak transcription	Right Ventricle	heart
5	chr6:110013200-110034000	Weak transcription	Fetal Stomach	stomach
6	chr6:110013200-110057000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:110013200-110057000	Weak transcription	Aorta	Aorta
8	chr6:110013400-110038600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr6:110013600-110056000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr6:110013600-110056800	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr6:110013800-110029600	Weak transcription	Fetal Lung	lung
12	chr6:110014000-110027400	Weak transcription	Brain Angular Gyrus	brain
13	chr6:110014000-110034400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr6:110014800-110027400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr6:110014800-110027400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr6:110014800-110034200	Weak transcription	Fetal Intestine Small	intestine
17	chr6:110017600-110027000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr6:110018800-110034200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr6:110020600-110027800	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr6:110022200-110028200	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr6:110022600-110029400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr6:110022800-110027600	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr6:110023400-110027000	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr6:110023800-110027600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr6:110024200-110027400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr6:110024200-110038800	Weak transcription	Thymus	Thymus
27	chr6:110024200-110056400	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr6:110025000-110027800	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr6:110025000-110028000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr6:110025000-110034400	Weak transcription	Lung	lung
31	chr6:110025000-110057000	Weak transcription	Fetal Thymus	thymus
32	chr6:110025400-110029200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr6:110025800-110028400	Enhancers	Primary B cells from cord blood	blood
34	chr6:110026000-110027000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr6:110026000-110028400	Enhancers	Primary T cells from cord blood	blood
36	chr6:110026200-110027000	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr6:110026200-110027000	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr6:110026200-110027000	Enhancers	Colon Smooth Muscle	Colon
39	chr6:110026200-110028000	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr6:110026200-110028000	Enhancers	Brain Hippocampus Middle	brain
41	chr6:110026200-110028200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr6:110026400-110027000	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr6:110026400-110027200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr6:110026400-110027600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr6:110026400-110028200	Enhancers	Adipose Nuclei	Adipose
46	chr6:110026600-110027000	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr6:110026600-110027000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr6:110026600-110027000	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr6:110026600-110027000	Enhancers	Liver	Liver
50	chr6:110026600-110027000	Enhancers	Stomach Mucosa	stomach

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