Variant report

Variant	rs72947408
Chromosome Location	chr6:74276043-74276044
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: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	chr6:74274336..74276665-chr6:74293923..74295499,2	K562	blood:
2	chr6:74227750..74233305-chr6:74272676..74276952,12	K562	blood:
3	chr6:74225495..74228323-chr6:74275867..74278333,2	MCF-7	breast:
4	chr6:74270566..74272311-chr6:74274568..74277117,2	K562	blood:
5	chr6:74274687..74279711-chr6:74293912..74296161,4	K562	blood:
6	chr6:74273534..74278713-chr6:74287099..74290342,5	K562	blood:
7	chr6:74231699..74233989-chr6:74275538..74278472,2	MCF-7	breast:
8	chr6:74275602..74279787-chr6:74300038..74304050,3	MCF-7	breast:
9	chr6:74227140..74235678-chr6:74271460..74282263,27	K562	blood:
10	chr6:74273534..74277710-chr6:74287099..74290160,5	K562	blood:
11	chr6:74269349..74272192-chr6:74274693..74276750,2	K562	blood:
12	chr6:74229153..74233317-chr6:74274374..74277144,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000229862	Chromatin interaction
ENSG00000156508	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10943103	1.00[EUR][1000 genomes]
rs11963033	1.00[EUR][1000 genomes]
rs12190444	1.00[EUR][1000 genomes]
rs12191112	1.00[EUR][1000 genomes]
rs12193628	1.00[EUR][1000 genomes]
rs12197170	1.00[EUR][1000 genomes]
rs12198839	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12199142	1.00[EUR][1000 genomes]
rs12199577	1.00[EUR][1000 genomes]
rs12205957	1.00[EUR][1000 genomes]
rs12205991	1.00[EUR][1000 genomes]
rs12212315	0.92[EUR][1000 genomes]
rs28365878	1.00[EUR][1000 genomes]
rs3857464	1.00[EUR][1000 genomes]
rs3857465	0.96[EUR][1000 genomes]
rs4302642	1.00[EUR][1000 genomes]
rs56104432	0.96[EUR][1000 genomes]
rs56375536	1.00[EUR][1000 genomes]
rs72947410	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3410973	chr6:73716033-74419545	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv886158	chr6:74126084-74436825	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers 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	179 gene(s)	inside rSNPs	diseases
3	nsv1027968	chr6:74155378-74521923	Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
4	nsv538305	chr6:74155378-74521923	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
5	nsv1017716	chr6:74173173-74401162	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
6	nsv1023250	chr6:74189642-74605976	Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
7	nsv538306	chr6:74189642-74605976	Strong transcription Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
8	esv2763576	chr6:74197638-74277249	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	160 gene(s)	inside rSNPs	diseases
9	nsv463153	chr6:74229258-74290291	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	141 gene(s)	inside rSNPs	diseases
10	nsv603693	chr6:74229258-74290291	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	141 gene(s)	inside rSNPs	diseases
11	nsv527357	chr6:74253266-74325403	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
12	nsv603694	chr6:74275405-74365807	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74269000-74276800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:74271000-74276200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr6:74271200-74276200	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr6:74271200-74276800	Weak transcription	Esophagus	oesophagus
5	chr6:74274200-74277400	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr6:74274600-74277000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:74274600-74277400	Enhancers	HSMMtube	muscle
8	chr6:74274600-74278600	Enhancers	Placenta	Placenta
9	chr6:74274800-74277000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr6:74275000-74276200	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr6:74275000-74276400	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr6:74275000-74277000	Enhancers	Liver	Liver
13	chr6:74275000-74277200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr6:74275000-74277600	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr6:74275000-74277600	Enhancers	Fetal Intestine Small	intestine
16	chr6:74275000-74278400	Enhancers	Fetal Intestine Large	intestine
17	chr6:74275200-74276200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr6:74275200-74276200	Enhancers	A549	lung
19	chr6:74275200-74276600	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr6:74275200-74276600	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr6:74275200-74276600	Enhancers	Hela-S3	cervix
22	chr6:74275200-74277200	Enhancers	H9 Cell Line	embryonic stem cell
23	chr6:74275200-74277200	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr6:74275200-74277200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr6:74275200-74277200	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr6:74275200-74277200	Enhancers	HSMM	muscle
27	chr6:74275200-74277400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr6:74275200-74277400	Enhancers	Osteobl	bone
29	chr6:74275200-74277600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr6:74275400-74276600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr6:74275400-74276800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr6:74275400-74277000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr6:74275400-74277200	Enhancers	H1 Cell Line	embryonic stem cell
34	chr6:74275400-74277200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr6:74275400-74277200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr6:74275400-74277200	Enhancers	NH-A	brain
37	chr6:74275400-74277400	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr6:74275400-74277600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr6:74275400-74278200	Enhancers	NHDF-Ad	bronchial
40	chr6:74275600-74276200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr6:74275600-74276400	Enhancers	Fetal Heart	heart
42	chr6:74275600-74276800	Weak transcription	K562	blood
43	chr6:74275600-74277000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr6:74275600-74277400	Flanking Active TSS	HepG2	liver
45	chr6:74275800-74276200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr6:74275800-74276200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr6:74275800-74276600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr6:74275800-74277200	Enhancers	HMEC	breast
49	chr6:74275800-74277200	Enhancers	NHEK	skin
50	chr6:74276000-74276200	Enhancers	NHLF	lung

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