Variant report

Variant	rs2838700
Chromosome Location	chr21:46235913-46235914
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 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	chr21:46235456..46237470-chr21:46274330..46277506,4	K562	blood:
5	chr21:46233611..46237296-chr21:46352613..46355418,3	K562	blood:
6	chr21:46234565..46238085-chr21:46349825..46353215,3	MCF-7	breast:
7	chr21:46235459..46240790-chr21:46329963..46334235,7	MCF-7	breast:
8	chr21:46234037..46237833-chr21:46295592..46298389,4	K562	blood:
9	chr21:46235517..46239255-chr21:46289829..46295572,6	K562	blood:
10	chr21:46235651..46239241-chr21:46493223..46495632,4	MCF-7	breast:
11	chr21:46235456..46237269-chr21:46361591..46363708,2	K562	blood:
12	chr21:46231789..46243695-chr21:46286819..46295664,23	MCF-7	breast:
13	chr21:46233435..46239577-chr21:46329843..46334353,8	MCF-7	breast:
14	chr21:46234752..46239628-chr21:46345760..46349592,8	MCF-7	breast:
15	chr21:46234824..46239565-chr21:46284858..46289652,5	K562	blood:
16	chr21:46186765..46188429-chr21:46235591..46237706,2	K562	blood:
17	chr21:46235731..46237391-chr21:46308953..46310486,2	K562	blood:
18	chr21:46204105..46208556-chr21:46233916..46237563,3	K562	blood:
19	chr21:46235785..46239443-chr21:46357143..46362674,8	MCF-7	breast:
20	chr21:46231513..46241255-chr21:46492035..46497390,26	K562	blood:
21	chr21:46235394..46237991-chr21:46340879..46344165,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000235374	Chromatin interaction
ENSG00000160256	Chromatin interaction
ENSG00000268856	Chromatin interaction
ENSG00000183255	Chromatin interaction
ENSG00000197381	Chromatin interaction
ENSG00000160255	Chromatin interaction
ENSG00000227039	Chromatin interaction
ENSG00000273027	Chromatin interaction
ENSG00000183250	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	0.91[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs2838677	0.91[CHB][hapmap];0.91[JPT][hapmap];0.93[ASN][1000 genomes]
rs2838679	0.91[CHB][hapmap];0.91[JPT][hapmap];0.95[ASN][1000 genomes]
rs2838693	1.00[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2838697	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2838698	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[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	1.00[CEU][hapmap];0.95[CHB][hapmap];0.96[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9306116	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]
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	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9981344	1.00[CEU][hapmap];0.96[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:126 , 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	chr21:46222600-46236400	Weak transcription	Stomach Mucosa	stomach
3	chr21:46222600-46237200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr21:46222800-46236400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr21:46222800-46237200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr21:46223000-46236400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr21:46223000-46236400	Strong transcription	Fetal Stomach	stomach
8	chr21:46224200-46236600	Weak transcription	Psoas Muscle	Psoas
9	chr21:46224400-46236400	Weak transcription	Fetal Heart	heart
10	chr21:46226400-46236400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr21:46229600-46236400	Weak transcription	Fetal Brain Male	brain
12	chr21:46230000-46237200	Weak transcription	Fetal Kidney	kidney
13	chr21:46230400-46236400	Weak transcription	Rectal Smooth Muscle	rectum
14	chr21:46230600-46236400	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr21:46230600-46237200	Weak transcription	Aorta	Aorta
16	chr21:46230600-46237200	Weak transcription	Brain Angular Gyrus	brain
17	chr21:46230800-46236400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr21:46230800-46236400	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr21:46230800-46236400	Weak transcription	HUVEC	blood vessel
20	chr21:46230800-46236600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr21:46231000-46236400	Weak transcription	Brain Hippocampus Middle	brain
22	chr21:46231000-46236400	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr21:46231000-46236400	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr21:46231000-46236600	Weak transcription	Primary B cells from cord blood	blood
25	chr21:46231200-46236400	Weak transcription	Fetal Lung	lung
26	chr21:46231200-46237000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr21:46231600-46236800	Weak transcription	Primary hematopoietic stem cells	blood
28	chr21:46232400-46236200	Genic enhancers	Dnd41	blood
29	chr21:46232800-46236400	Weak transcription	A549	lung
30	chr21:46233000-46236600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr21:46233000-46237000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr21:46233000-46237000	Weak transcription	HMEC	breast
33	chr21:46233000-46237000	Weak transcription	NH-A	brain
34	chr21:46233200-46237000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr21:46233600-46236400	Weak transcription	Primary T cells from cord blood	blood
36	chr21:46233600-46236400	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr21:46233600-46236800	Weak transcription	Primary B cells from peripheral blood	blood
38	chr21:46233800-46236600	Weak transcription	Brain Germinal Matrix	brain
39	chr21:46233800-46237000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr21:46233800-46237000	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr21:46233800-46237200	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr21:46234000-46236200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr21:46234000-46236200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr21:46234000-46236200	Weak transcription	Duodenum Mucosa	Duodenum
45	chr21:46234000-46236200	Weak transcription	Esophagus	oesophagus
46	chr21:46234000-46236400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr21:46234000-46236400	Weak transcription	Fetal Brain Female	brain
48	chr21:46234000-46236400	Weak transcription	Gastric	stomach
49	chr21:46234000-46236400	Weak transcription	Ovary	ovary
50	chr21:46234000-46236600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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