Variant report

Variant	rs9306116
Chromosome Location	chr21:46234079-46234080
allele	A/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: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	chr21:46231216..46239677-chr21:46289090..46295542,14	K562	blood:
2	chr21:46232702..46239829-chr21:46289967..46296620,21	MCF-7	breast:
3	chr21:46231904..46241990-chr21:46492035..46500735,28	K562	blood:
4	chr21:46233611..46237296-chr21:46352613..46355418,3	K562	blood:
5	chr21:46234037..46237833-chr21:46295592..46298389,4	K562	blood:
6	chr21:46233556..46235147-chr21:46366013..46368911,2	MCF-7	breast:
7	chr21:46231789..46243695-chr21:46286819..46295664,23	MCF-7	breast:
8	chr21:46233435..46239577-chr21:46329843..46334353,8	MCF-7	breast:
9	chr21:46204105..46208556-chr21:46233916..46237563,3	K562	blood:
10	chr21:46233076..46235326-chr21:46293687..46295542,2	K562	blood:
11	chr21:46231513..46241255-chr21:46492035..46497390,26	K562	blood:

No data

Variant related genes	Relation type
ENSG00000183255	Chromatin interaction
ENSG00000268856	Chromatin interaction
ENSG00000197381	Chromatin interaction
ENSG00000160255	Chromatin interaction
ENSG00000235374	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs13047692	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13047718	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13433413	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2294158	0.94[ASN][1000 genomes]
rs2838676	0.86[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs2838677	0.85[CHB][hapmap];0.91[JPT][hapmap];0.93[ASN][1000 genomes]
rs2838679	0.85[CHB][hapmap];0.91[JPT][hapmap];0.95[ASN][1000 genomes]
rs2838693	0.92[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2838697	0.91[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2838698	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838700	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34875321	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3788138	0.92[ASN][1000 genomes]
rs4818731	0.92[ASN][1000 genomes]
rs4818976	0.96[ASN][1000 genomes]
rs4818977	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72613649	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8131444	0.96[ASN][1000 genomes]
rs9306115	0.91[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9637189	0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9977465	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9977676	0.92[ASN][1000 genomes]
rs9978131	0.92[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9981344	0.91[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv913956	chr21:46096964-46279505	Enhancers Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv1062245	chr21:46096964-46332587	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv544478	chr21:46096964-46332587	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
5	nsv459298	chr21:46223847-46277968	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv587813	chr21:46223847-46277968	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv913963	chr21:46223847-46277968	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	nsv913964	chr21:46223847-46298869	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
9	nsv913962	chr21:46223847-46321172	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS 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	34 gene(s)	inside rSNPs	diseases
10	nsv913965	chr21:46223847-46321172	Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
11	nsv1058550	chr21:46227163-46317934	Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
12	nsv913966	chr21:46229393-46261390	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46222400-46236400	Weak transcription	Small Intestine	intestine
2	chr21:46222600-46234800	Weak transcription	Right Atrium	heart
3	chr21:46222600-46236400	Weak transcription	Stomach Mucosa	stomach
4	chr21:46222600-46237200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr21:46222800-46236400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr21:46222800-46237200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr21:46223000-46234200	Strong transcription	Placenta	Placenta
8	chr21:46223000-46236400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr21:46223000-46236400	Strong transcription	Fetal Stomach	stomach
10	chr21:46223200-46235200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr21:46223200-46235800	Strong transcription	Fetal Intestine Small	intestine
12	chr21:46223400-46234600	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr21:46223600-46234200	Strong transcription	Fetal Intestine Large	intestine
14	chr21:46223600-46235000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr21:46223800-46234200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr21:46223800-46234600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr21:46223800-46235600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr21:46224000-46234400	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr21:46224200-46236600	Weak transcription	Psoas Muscle	Psoas
20	chr21:46224400-46236400	Weak transcription	Fetal Heart	heart
21	chr21:46224800-46234200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr21:46224800-46234200	Strong transcription	Thymus	Thymus
23	chr21:46225800-46234200	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr21:46226400-46236400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr21:46227200-46235000	Strong transcription	HepG2	liver
26	chr21:46227800-46235800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr21:46228800-46234200	Weak transcription	HSMMtube	muscle
28	chr21:46229000-46234600	Weak transcription	NHDF-Ad	bronchial
29	chr21:46229000-46235400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr21:46229400-46234200	Weak transcription	Hela-S3	cervix
31	chr21:46229400-46235400	Weak transcription	Colon Smooth Muscle	Colon
32	chr21:46229600-46236400	Weak transcription	Fetal Brain Male	brain
33	chr21:46230000-46237200	Weak transcription	Fetal Kidney	kidney
34	chr21:46230400-46235800	Weak transcription	Brain Substantia Nigra	brain
35	chr21:46230400-46236400	Weak transcription	Rectal Smooth Muscle	rectum
36	chr21:46230600-46235800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr21:46230600-46236400	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr21:46230600-46237200	Weak transcription	Aorta	Aorta
39	chr21:46230600-46237200	Weak transcription	Brain Angular Gyrus	brain
40	chr21:46230800-46234200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr21:46230800-46234800	Weak transcription	Brain Anterior Caudate	brain
42	chr21:46230800-46235400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr21:46230800-46235600	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr21:46230800-46236400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr21:46230800-46236400	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr21:46230800-46236400	Weak transcription	HUVEC	blood vessel
47	chr21:46230800-46236600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr21:46231000-46234800	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr21:46231000-46236400	Weak transcription	Brain Hippocampus Middle	brain
50	chr21:46231000-46236400	Weak transcription	Brain Inferior Temporal Lobe	brain

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