Variant report

Variant	rs1108314
Chromosome Location	chr6:144018240-144018241
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:144018054..144020954-chr6:144022528..144024554,3	MCF-7	breast:
2	chr6:143831227..143833944-chr6:144017748..144020555,2	MCF-7	breast:
3	chr6:144015602..144018341-chr6:144021601..144023244,2	K562	blood:
4	chr6:144004544..144009046-chr6:144017005..144020189,4	K562	blood:
5	chr6:144011351..144015622-chr6:144016784..144019989,3	K562	blood:

Variant related genes	Relation type
ENSG00000001036	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10872562	1.00[CHB][hapmap];0.85[CHD][hapmap];0.85[JPT][hapmap];0.90[ASN][1000 genomes]
rs11155315	0.86[CHB][hapmap]
rs11155317	0.90[ASN][1000 genomes]
rs12198291	0.87[ASN][1000 genomes]
rs12201496	0.80[EUR][1000 genomes]
rs12206069	0.82[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs12207002	1.00[CHB][hapmap];0.86[CHD][hapmap];0.85[JPT][hapmap];0.81[LWK][hapmap];0.88[ASN][1000 genomes]
rs12208927	1.00[CHB][hapmap];0.86[CHD][hapmap];0.85[JPT][hapmap];0.81[LWK][hapmap];0.90[ASN][1000 genomes]
rs12528456	1.00[CHB][hapmap];0.85[JPT][hapmap];0.95[ASN][1000 genomes]
rs3924969	0.88[ASN][1000 genomes]
rs6901659	1.00[CHB][hapmap];0.81[JPT][hapmap];0.90[ASN][1000 genomes]
rs6907410	0.90[ASN][1000 genomes]
rs6913134	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.89[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6915784	0.90[ASN][1000 genomes]
rs7740709	0.84[CHB][hapmap];0.88[ASN][1000 genomes]
rs7741424	0.88[ASN][1000 genomes]
rs7748882	0.86[CHB][hapmap]
rs7766510	0.86[CHB][hapmap];0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs7772565	0.86[CHB][hapmap]
rs7776119	0.84[ASN][1000 genomes]
rs8180640	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9373396	0.89[ASN][1000 genomes]
rs9373397	0.80[JPT][hapmap]
rs9376776	0.88[ASN][1000 genomes]
rs9376779	0.81[ASN][1000 genomes]
rs9386042	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[MEX][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9386043	0.80[JPT][hapmap];0.80[EUR][1000 genomes]
rs9390126	0.86[ASN][1000 genomes]
rs9399458	0.93[ASN][1000 genomes]
rs9403521	1.00[CHB][hapmap];0.86[CHD][hapmap];0.85[JPT][hapmap];0.81[LWK][hapmap];0.92[ASN][1000 genomes]
rs9403523	0.85[CHB][hapmap];0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs9496739	0.87[CEU][hapmap];0.86[CHD][hapmap];0.81[JPT][hapmap];0.90[TSI][hapmap];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758084	chr6:143916621-144079976	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv2759476	chr6:143916621-144079976	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv886737	chr6:144010570-144033992	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144005000-144020400	Weak transcription	Fetal Muscle Trunk	muscle
2	chr6:144010200-144019600	Weak transcription	Spleen	Spleen
3	chr6:144010400-144020000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:144011600-144053200	Weak transcription	Hela-S3	cervix
5	chr6:144011800-144019600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:144011800-144019800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr6:144012200-144018600	Enhancers	Stomach Mucosa	stomach
8	chr6:144012200-144026800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr6:144013800-144019200	Enhancers	Duodenum Smooth Muscle	Duodenum
10	chr6:144014000-144019600	Weak transcription	Placenta	Placenta
11	chr6:144014200-144019800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr6:144014200-144019800	Weak transcription	Right Atrium	heart
13	chr6:144014200-144027800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr6:144014200-144039800	Weak transcription	Pancreas	Pancrea
15	chr6:144014400-144019000	Enhancers	HepG2	liver
16	chr6:144014400-144022600	Weak transcription	Fetal Intestine Large	intestine
17	chr6:144014600-144020200	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr6:144014800-144019000	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr6:144014800-144020800	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr6:144015000-144018400	Enhancers	Fetal Lung	lung
21	chr6:144015000-144019800	Enhancers	Colon Smooth Muscle	Colon
22	chr6:144015200-144018800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr6:144015400-144019800	Enhancers	Muscle Satellite Cultured Cells	--
24	chr6:144015400-144019800	Weak transcription	Gastric	stomach
25	chr6:144015400-144020000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr6:144015400-144020800	Weak transcription	Lung	lung
27	chr6:144015400-144034600	Weak transcription	Esophagus	oesophagus
28	chr6:144015800-144021800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr6:144016000-144018400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr6:144016000-144018600	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr6:144016000-144021800	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr6:144016000-144022000	Weak transcription	HSMMtube	muscle
33	chr6:144016200-144019600	Weak transcription	HSMM	muscle
34	chr6:144016200-144021600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr6:144016200-144023000	Enhancers	Adipose Nuclei	Adipose
36	chr6:144016200-144037200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr6:144016200-144038000	Weak transcription	NHEK	skin
38	chr6:144016400-144019800	Weak transcription	Left Ventricle	heart
39	chr6:144016400-144022000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr6:144016600-144018600	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr6:144016600-144019800	Weak transcription	Right Ventricle	heart
42	chr6:144016600-144020000	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr6:144016600-144034000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr6:144016600-144034000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr6:144016800-144018800	Weak transcription	HMEC	breast
46	chr6:144016800-144021800	Weak transcription	Brain Substantia Nigra	brain
47	chr6:144017000-144018400	Enhancers	Liver	Liver
48	chr6:144017000-144019800	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr6:144017000-144021000	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr6:144017000-144022000	Weak transcription	Primary T helper cells fromperipheralblood	blood

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