Variant report

Variant	rs2844721
Chromosome Location	chr6:30471147-30471148
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30464045..30467237-chr6:30469293..30473855,6	K562	blood:
2	chr6:30464045..30467741-chr6:30469298..30473855,7	K562	blood:
3	chr6:30469219..30471852-chr6:30580124..30581734,2	MCF-7	breast:
4	chr6:30455779..30460084-chr6:30467549..30471696,4	K562	blood:
5	chr6:30462726..30464403-chr6:30470965..30472955,2	MCF-7	breast:
6	chr6:30456473..30458164-chr6:30470775..30472737,2	MCF-7	breast:
7	chr6:30470552..30472079-chr6:30475502..30477348,2	MCF-7	breast:
8	chr6:30469956..30473443-chr6:30581105..30584253,4	K562	blood:
9	chr6:30459180..30463504-chr6:30468325..30471829,5	K562	blood:
10	chr6:30470725..30472982-chr6:30482463..30484366,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000222894	Chromatin interaction
ENSG00000235781	Chromatin interaction
ENSG00000204592	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs1362119	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1468079	0.81[EUR][1000 genomes]
rs2023608	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2023609	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2074505	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2109477	0.90[AMR][1000 genomes]
rs2429655	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2429656	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2508021	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2508022	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2508023	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2516639	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2516642	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2516643	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2516644	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2516646	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2516648	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2516649	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2516653	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2516656	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2516662	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2516665	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2524221	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2524225	0.82[AMR][1000 genomes]
rs2524226	0.82[AMR][1000 genomes]
rs2534802	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2534806	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2534807	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2534808	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2534809	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2534810	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2534812	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2534813	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2534814	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2534815	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2534821	0.84[AMR][1000 genomes]
rs2534823	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2534824	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2534825	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2844713	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2844714	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2844715	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2844716	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2844717	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2844718	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2844720	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2844722	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2844723	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2844724	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2844725	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3094718	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3095280	0.89[AMR][1000 genomes]
rs3130039	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3130240	0.81[EUR][1000 genomes]
rs9262070	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9262082	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs975195	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs996588	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs996589	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	nsv884070	chr6:30430875-30472772	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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
9	nsv884081	chr6:30455920-30472772	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	29 gene(s)	inside rSNPs	diseases
10	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
11	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
12	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
13	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
14	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
15	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
16	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:31 , 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	chr6:30469000-30472600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr6:30469000-30472800	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr6:30469000-30475000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr6:30469000-30475400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr6:30469000-30476800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr6:30469200-30472000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr6:30469200-30472200	Weak transcription	Primary B cells from peripheral blood	blood
12	chr6:30469200-30472800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr6:30469200-30473200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr6:30469200-30473400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr6:30469200-30473600	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr6:30469200-30473600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr6:30469200-30473800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr6:30469200-30474400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr6:30469200-30474800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr6:30469200-30475000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr6:30469200-30475000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr6:30469200-30475400	Weak transcription	Duodenum Mucosa	Duodenum
23	chr6:30469200-30477000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr6:30469400-30471200	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr6:30469600-30472200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr6:30469600-30472600	Weak transcription	Primary T cells from cord blood	blood
27	chr6:30469600-30473400	Weak transcription	Primary B cells from cord blood	blood
28	chr6:30470600-30471800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:30470600-30473600	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr6:30470800-30473600	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr6:30471000-30471400	Enhancers	Primary neutrophils fromperipheralblood	blood

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