Variant report

Variant	rs73431018
Chromosome Location	chr6:30473992-30473993
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:30458696..30461748-chr6:30472625..30475481,3	K562	blood:
2	chr6:30472302..30475126-chr6:30482468..30484692,2	MCF-7	breast:
3	chr6:30472641..30478529-chr6:30479712..30485715,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235781	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11548296	1.00[ASN][1000 genomes]
rs58980373	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59549358	1.00[AMR][1000 genomes]
rs60716469	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60791005	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61356961	1.00[ASN][1000 genomes]
rs6927597	1.00[ASN][1000 genomes]
rs6927603	1.00[ASN][1000 genomes]
rs73431081	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73433105	1.00[ASN][1000 genomes]
rs73433115	1.00[ASN][1000 genomes]
rs7754598	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9800637	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025667	chr6:30292845-30638066	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	825 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	nsv884076	chr6:30434566-30483919	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases
6	nsv884077	chr6:30434900-30512163	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
7	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
8	nsv884082	chr6:30455920-30475431	Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	29 gene(s)	inside rSNPs	diseases
9	nsv884084	chr6:30462084-30475431	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
10	nsv884085	chr6:30462084-30482080	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
11	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
12	nsv884087	chr6:30465792-30475431	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
13	nsv884088	chr6:30465792-30480434	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
14	nsv884089	chr6:30465792-30482080	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30460800-30475400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:30468600-30476000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr6:30468800-30475400	Weak transcription	Esophagus	oesophagus
4	chr6:30468800-30483800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:30469000-30475000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr6:30469000-30475400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr6:30469000-30476800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr6:30469200-30474400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr6:30469200-30474800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr6:30469200-30475000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr6:30469200-30475000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr6:30469200-30475400	Weak transcription	Duodenum Mucosa	Duodenum
13	chr6:30469200-30477000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr6:30471200-30475800	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr6:30472200-30475600	Enhancers	Primary B cells from peripheral blood	blood
16	chr6:30472200-30475600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr6:30472600-30476600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr6:30472800-30476000	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr6:30472800-30476600	Enhancers	Primary T cells fromperipheralblood	blood
20	chr6:30473200-30474000	Enhancers	Primary hematopoietic stem cells	blood
21	chr6:30473200-30476000	Enhancers	Primary T cells from cord blood	blood
22	chr6:30473400-30475800	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr6:30473400-30475800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr6:30473400-30476000	Enhancers	Primary B cells from cord blood	blood
25	chr6:30473600-30475000	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr6:30473600-30475400	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr6:30473600-30475800	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr6:30473600-30476200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr6:30473800-30475400	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr6:30473800-30475600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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