Variant report

Variant	rs73422013
Chromosome Location	chr6:30647784-30647785
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30643140..30646430-chr6:30646778..30649546,3	MCF-7	breast:
2	chr6:30646224..30648550-chr6:30708857..30711980,3	MCF-7	breast:
3	chr6:30643326..30660432-chr6:30681522..30696111,127	MCF-7	breast:
4	chr6:30524651..30526287-chr6:30646333..30647900,2	K562	blood:
5	chr6:30634661..30668428-chr6:30680318..30698953,145	MCF-7	breast:
6	chr6:30642470..30648471-chr6:30697241..30700740,8	MCF-7	breast:
7	chr6:30646486..30647794-chr6:30698350..30699317,4	K562	blood:
8	chr6:30577127..30589352-chr6:30620628..30648657,88	K562	blood:
9	chr6:30645233..30648290-chr6:30849702..30853210,4	MCF-7	breast:
10	chr6:30643814..30650234-chr6:30705979..30710789,12	MCF-7	breast:
11	chr6:30646395..30649153-chr6:30705465..30707695,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000204576	Chromatin interaction
ENSG00000196230	Chromatin interaction
ENSG00000222894	Chromatin interaction
ENSG00000137337	Chromatin interaction
ENSG00000204580	Chromatin interaction
ENSG00000204590	Chromatin interaction
ENSG00000137312	Chromatin interaction
ENSG00000204568	Chromatin interaction
ENSG00000272540	Chromatin interaction
ENSG00000272273	Chromatin interaction
ENSG00000204569	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]
rs73422011	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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30640800-30649600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:30641000-30650000	Weak transcription	Psoas Muscle	Psoas
3	chr6:30644000-30648000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:30644200-30653800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr6:30645000-30651800	Weak transcription	Ovary	ovary
6	chr6:30645400-30650200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr6:30646200-30649600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr6:30646400-30648800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr6:30646400-30649000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr6:30646600-30647800	Genic enhancers	HUES48 Cell Line	embryonic stem cell
11	chr6:30646600-30647800	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr6:30646600-30648000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr6:30646600-30648200	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
14	chr6:30646600-30648400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr6:30646600-30648400	Genic enhancers	Fetal Intestine Small	intestine
16	chr6:30646600-30648400	Genic enhancers	Placenta	Placenta
17	chr6:30646600-30648600	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
18	chr6:30646600-30649200	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
19	chr6:30646600-30649200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
20	chr6:30646600-30649400	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
21	chr6:30646600-30649400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
22	chr6:30646600-30649600	Genic enhancers	Right Ventricle	heart
23	chr6:30646600-30650600	Enhancers	Fetal Brain Male	brain
24	chr6:30646600-30653400	Transcr. at gene 5' and 3'	NHLF	lung
25	chr6:30646600-30653800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr6:30646800-30647800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr6:30646800-30647800	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr6:30646800-30648000	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
29	chr6:30646800-30648000	Enhancers	Small Intestine	intestine
30	chr6:30646800-30648000	Transcr. at gene 5' and 3'	K562	blood
31	chr6:30646800-30648200	Transcr. at gene 5' and 3'	Primary T helper cells fromperipheralblood	blood
32	chr6:30646800-30648400	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
33	chr6:30646800-30648400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
34	chr6:30646800-30648400	Transcr. at gene 5' and 3'	Colon Smooth Muscle	Colon
35	chr6:30646800-30648400	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
36	chr6:30646800-30648400	Transcr. at gene 5' and 3'	HSMM	muscle
37	chr6:30646800-30649000	Transcr. at gene 5' and 3'	Primary mononuclear cells fromperipheralblood	Blood
38	chr6:30646800-30649000	Genic enhancers	Fetal Muscle Leg	muscle
39	chr6:30646800-30649200	Transcr. at gene 5' and 3'	Thymus	Thymus
40	chr6:30646800-30649800	Transcr. at gene 5' and 3'	Rectal Smooth Muscle	rectum
41	chr6:30646800-30650000	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood
42	chr6:30646800-30650000	Genic enhancers	Fetal Muscle Trunk	muscle
43	chr6:30646800-30650200	Weak transcription	Fetal Kidney	kidney
44	chr6:30646800-30650600	Genic enhancers	Spleen	Spleen
45	chr6:30646800-30651200	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
46	chr6:30646800-30653200	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr6:30646800-30653600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr6:30646800-30653800	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr6:30647000-30647800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr6:30647000-30647800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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