Variant report

Variant	rs73422011
Chromosome Location	chr6:30646724-30646725
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30646432..30647241-chr6:30693199..30694158,2	K562	blood:
2	chr6:30646636..30647399-chr6:30690429..30691049,3	MCF-7	breast:
3	chr6:30646224..30648550-chr6:30708857..30711980,3	MCF-7	breast:
4	chr6:30646692..30647419-chr6:30698658..30699269,4	MCF-7	breast:
5	chr6:30643326..30660432-chr6:30681522..30696111,127	MCF-7	breast:
6	chr6:30646445..30647184-chr6:30689209..30689746,2	K562	blood:
7	chr6:30524651..30526287-chr6:30646333..30647900,2	K562	blood:
8	chr6:30646385..30647034-chr6:30845206..30845866,2	K562	blood:
9	chr6:30646431..30647401-chr6:30690082..30691095,13	MCF-7	breast:
10	chr6:30634661..30668428-chr6:30680318..30698953,145	MCF-7	breast:
11	chr6:30646446..30647403-chr6:30689906..30691430,10	K562	blood:
12	chr6:30646469..30647409-chr6:31047261..31047791,2	K562	blood:
13	chr6:30639491..30642399-chr6:30642819..30647161,4	MCF-7	breast:
14	chr6:30642470..30648471-chr6:30697241..30700740,8	MCF-7	breast:
15	chr6:30646486..30647794-chr6:30698350..30699317,4	K562	blood:
16	chr6:30646480..30647384-chr6:30684921..30685946,3	K562	blood:
17	chr6:30577127..30589352-chr6:30620628..30648657,88	K562	blood:
18	chr6:30645233..30648290-chr6:30849702..30853210,4	MCF-7	breast:
19	chr6:30646332..30647297-chr6:30698013..30699287,6	MCF-7	breast:
20	chr6:30643814..30650234-chr6:30705979..30710789,12	MCF-7	breast:
21	chr6:30582956..30585804-chr6:30643199..30647453,3	MCF-7	breast:
22	chr6:30646395..30649153-chr6:30705465..30707695,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000204560	Chromatin interaction
ENSG00000204568	Chromatin interaction
ENSG00000272273	Chromatin interaction
ENSG00000204580	Chromatin interaction
ENSG00000272540	Chromatin interaction
ENSG00000222894	Chromatin interaction
ENSG00000137337	Chromatin interaction
ENSG00000204569	Chromatin interaction
ENSG00000204576	Chromatin interaction
ENSG00000204590	Chromatin interaction
ENSG00000196230	Chromatin interaction
ENSG00000137312	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs17189246	0.97[ASN][1000 genomes]
rs2239887	0.97[ASN][1000 genomes]
rs2249059	0.81[ASN][1000 genomes]
rs2269703	0.85[ASN][1000 genomes]
rs2269708	0.97[ASN][1000 genomes]
rs28986466	0.85[ASN][1000 genomes]
rs3130663	0.85[ASN][1000 genomes]
rs41273001	0.97[ASN][1000 genomes]
rs57302671	0.97[ASN][1000 genomes]
rs61059475	0.91[AFR][1000 genomes]
rs73422013	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73422050	0.85[AFR][1000 genomes]
rs7747973	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	esv2758041	chr6:30644693-30816319	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	223 gene(s)	inside rSNPs	diseases
9	esv2759413	chr6:30644693-30816319	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	223 gene(s)	inside rSNPs	diseases
10	nsv884095	chr6:30644987-30664567	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30640800-30647000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:30640800-30649600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:30641000-30647000	Weak transcription	Stomach Mucosa	stomach
4	chr6:30641000-30647600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr6:30641000-30650000	Weak transcription	Psoas Muscle	Psoas
6	chr6:30641200-30646800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr6:30641200-30647000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr6:30641800-30646800	Weak transcription	HepG2	liver
9	chr6:30643600-30646800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr6:30643600-30646800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr6:30643600-30646800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr6:30643600-30646800	Strong transcription	Adipose Nuclei	Adipose
13	chr6:30643600-30646800	Strong transcription	Brain Germinal Matrix	brain
14	chr6:30643600-30646800	Strong transcription	NH-A	brain
15	chr6:30643600-30647000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:30643600-30647000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr6:30643600-30647000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr6:30643600-30647000	Strong transcription	Muscle Satellite Cultured Cells	--
19	chr6:30643600-30647000	Strong transcription	Fetal Brain Female	brain
20	chr6:30643600-30647400	Strong transcription	HSMMtube	muscle
21	chr6:30643800-30646800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr6:30643800-30646800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr6:30643800-30646800	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr6:30643800-30646800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr6:30643800-30646800	Strong transcription	Colon Smooth Muscle	Colon
26	chr6:30643800-30646800	Strong transcription	Fetal Lung	lung
27	chr6:30643800-30646800	Strong transcription	Fetal Muscle Trunk	muscle
28	chr6:30643800-30646800	Strong transcription	Fetal Muscle Leg	muscle
29	chr6:30643800-30646800	Strong transcription	Lung	lung
30	chr6:30643800-30646800	Strong transcription	Thymus	Thymus
31	chr6:30643800-30646800	Strong transcription	Spleen	Spleen
32	chr6:30643800-30646800	Strong transcription	Dnd41	blood
33	chr6:30643800-30647000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr6:30643800-30647000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr6:30643800-30647000	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr6:30643800-30647000	Strong transcription	Fetal Stomach	stomach
37	chr6:30643800-30647000	Strong transcription	Left Ventricle	heart
38	chr6:30644000-30646800	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr6:30644000-30646800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr6:30644000-30648000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr6:30644200-30647000	Genic enhancers	Liver	Liver
42	chr6:30644200-30653800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr6:30644600-30646800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
44	chr6:30644600-30646800	Genic enhancers	Primary B cells from peripheral blood	blood
45	chr6:30644800-30647000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr6:30644800-30647400	Weak transcription	Brain Angular Gyrus	brain
47	chr6:30645000-30646800	Weak transcription	Brain Anterior Caudate	brain
48	chr6:30645000-30646800	Strong transcription	Fetal Kidney	kidney
49	chr6:30645000-30647000	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr6:30645000-30647000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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