Variant report

Variant	rs73422044
Chromosome Location	chr6:30677316-30677317
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:30676117-30677992	K562	blood:	n/a	n/a
2	POLR2A	chr6:30677282-30677581	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:30652587..30660257-chr6:30673612..30681352,12	MCF-7	breast:

Variant related genes	Relation type
MDC1	TF binding region
ENSG00000146112	Chromatin interaction
ENSG00000137404	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17189357	1.00[ASN][1000 genomes]
rs28986467	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57529939	1.00[ASN][1000 genomes]
rs61059475	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6931296	1.00[ASN][1000 genomes]
rs73422050	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73433122	1.00[ASN][1000 genomes]
rs73433127	1.00[ASN][1000 genomes]
rs73433141	1.00[ASN][1000 genomes]
rs73433149	1.00[ASN][1000 genomes]
rs7747973	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
6	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
7	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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30659200-30684200	Weak transcription	Right Atrium	heart
2	chr6:30659400-30684400	Weak transcription	Stomach Mucosa	stomach
3	chr6:30659600-30680600	Weak transcription	Fetal Heart	heart
4	chr6:30659600-30684200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr6:30659600-30684200	Weak transcription	Fetal Brain Male	brain
6	chr6:30659600-30684800	Weak transcription	Small Intestine	intestine
7	chr6:30663200-30677400	Weak transcription	Fetal Kidney	kidney
8	chr6:30663200-30678600	Weak transcription	HMEC	breast
9	chr6:30663400-30677400	Weak transcription	NH-A	brain
10	chr6:30666200-30683000	Strong transcription	Fetal Muscle Trunk	muscle
11	chr6:30666200-30683000	Strong transcription	Fetal Muscle Leg	muscle
12	chr6:30666200-30683000	Strong transcription	Fetal Stomach	stomach
13	chr6:30666200-30683800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:30666400-30682600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr6:30666400-30683200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr6:30666400-30683200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr6:30666600-30680600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr6:30666800-30683400	Strong transcription	Cortex derived primary cultured neurospheres	brain
19	chr6:30667200-30683000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr6:30667200-30683200	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr6:30667400-30680000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr6:30667400-30683000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr6:30667400-30683000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr6:30667600-30683000	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr6:30667600-30683200	Strong transcription	Dnd41	blood
26	chr6:30668400-30684400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr6:30668600-30679000	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr6:30668600-30682000	Strong transcription	Fetal Intestine Small	intestine
29	chr6:30669200-30679600	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr6:30669200-30681800	Strong transcription	Brain Germinal Matrix	brain
31	chr6:30669200-30682800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr6:30669200-30683200	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr6:30669200-30683200	Strong transcription	Placenta	Placenta
34	chr6:30669600-30679600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr6:30669600-30679800	Strong transcription	Primary B cells from peripheral blood	blood
36	chr6:30669800-30682600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr6:30669800-30683000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr6:30670000-30677400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr6:30670000-30682400	Strong transcription	Brain Anterior Caudate	brain
40	chr6:30670000-30683200	Strong transcription	Primary T cells from cord blood	blood
41	chr6:30670000-30683200	Strong transcription	Fetal Brain Female	brain
42	chr6:30670200-30677600	Strong transcription	Ovary	ovary
43	chr6:30670200-30677800	Strong transcription	Brain Hippocampus Middle	brain
44	chr6:30670200-30680000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr6:30670200-30681800	Strong transcription	Fetal Intestine Large	intestine
46	chr6:30670200-30682600	Strong transcription	HepG2	liver
47	chr6:30670200-30683000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr6:30670200-30683000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr6:30670200-30683000	Strong transcription	Spleen	Spleen
50	chr6:30670200-30683200	Strong transcription	H9 Cell Line	embryonic stem cell

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