Variant report

Variant	rs547429190
Chromosome Location	chr21:46237175-46237176
allele	A/G
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:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:29 , 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	chr21:46235954..46239342-chr21:46346367..46350296,5	K562	blood:
6	chr21:46233611..46237296-chr21:46352613..46355418,3	K562	blood:
7	chr21:46234565..46238085-chr21:46349825..46353215,3	MCF-7	breast:
8	chr21:46235459..46240790-chr21:46329963..46334235,7	MCF-7	breast:
9	chr21:46234037..46237833-chr21:46295592..46298389,4	K562	blood:
10	chr19:56185115..56186636-chr21:46236479..46238156,2	MCF-7	breast:
11	chr21:46236678..46239215-chr21:46284689..46286960,3	MCF-7	breast:
12	chr21:46235517..46239255-chr21:46289829..46295572,6	K562	blood:
13	chr21:46235651..46239241-chr21:46493223..46495632,4	MCF-7	breast:
14	chr21:46235456..46237269-chr21:46361591..46363708,2	K562	blood:
15	chr21:46231789..46243695-chr21:46286819..46295664,23	MCF-7	breast:
16	chr21:46233435..46239577-chr21:46329843..46334353,8	MCF-7	breast:
17	chr21:46234752..46239628-chr21:46345760..46349592,8	MCF-7	breast:
18	chr21:46234824..46239565-chr21:46284858..46289652,5	K562	blood:
19	chr21:46237169..46238057-chr6:35464670..35465479,2	Hela-S3	cervix:
20	chr19:13228183..13231183-chr21:46235955..46238098,3	K562	blood:
21	chr21:46186765..46188429-chr21:46235591..46237706,2	K562	blood:
22	chr21:46236119..46237973-chr6:33239831..33242378,2	K562	blood:
23	chr21:46235731..46237391-chr21:46308953..46310486,2	K562	blood:
24	chr21:46204105..46208556-chr21:46233916..46237563,3	K562	blood:
25	chr21:46236285..46239693-chr21:46357237..46360614,5	K562	blood:
26	chr21:46235785..46239443-chr21:46357143..46362674,8	MCF-7	breast:
27	chr21:46236918..46239386-chr21:46357793..46361272,3	K562	blood:
28	chr21:46231513..46241255-chr21:46492035..46497390,26	K562	blood:
29	chr21:46235394..46237991-chr21:46340879..46344165,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000160255	Chromatin interaction
ENSG00000235374	Chromatin interaction
ENSG00000231500	Chromatin interaction
ENSG00000183255	Chromatin interaction
ENSG00000197381	Chromatin interaction
ENSG00000267523	Chromatin interaction
ENSG00000104907	Chromatin interaction
ENSG00000268856	Chromatin interaction
ENSG00000063245	Chromatin interaction
ENSG00000160256	Chromatin interaction
ENSG00000273027	Chromatin interaction
ENSG00000227039	Chromatin interaction
ENSG00000160877	Chromatin interaction
ENSG00000007866	Chromatin interaction
ENSG00000183250	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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	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
13	esv3345023	chr21:46236474-46239372	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
14	esv3410893	chr21:46236549-46239397	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46222600-46237200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr21:46222800-46237200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr21:46230000-46237200	Weak transcription	Fetal Kidney	kidney
4	chr21:46230600-46237200	Weak transcription	Aorta	Aorta
5	chr21:46230600-46237200	Weak transcription	Brain Angular Gyrus	brain
6	chr21:46233800-46237200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr21:46234000-46237200	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr21:46235000-46237200	Enhancers	Primary T cells fromperipheralblood	blood
9	chr21:46235000-46237200	Enhancers	Liver	Liver
10	chr21:46235400-46237200	Weak transcription	HSMMtube	muscle
11	chr21:46235600-46237400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr21:46235600-46237600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr21:46235800-46237200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr21:46235800-46237200	Enhancers	Brain Cingulate Gyrus	brain
15	chr21:46235800-46238200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr21:46236200-46237200	Enhancers	Esophagus	oesophagus
17	chr21:46236200-46237200	Enhancers	K562	blood
18	chr21:46236400-46237200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr21:46236400-46237200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr21:46236400-46237200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr21:46236400-46237200	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr21:46236400-46237200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr21:46236400-46237200	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr21:46236400-46237200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr21:46236400-46237200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr21:46236400-46237200	Enhancers	Lung	lung
27	chr21:46236400-46237200	Enhancers	Ovary	ovary
28	chr21:46236400-46237200	Enhancers	Stomach Mucosa	stomach
29	chr21:46236400-46237400	Enhancers	Fetal Heart	heart
30	chr21:46236400-46237400	Enhancers	Small Intestine	intestine
31	chr21:46236400-46237600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr21:46236400-46237800	Enhancers	Fetal Brain Male	brain
33	chr21:46236600-46237200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr21:46236600-46237200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr21:46236600-46237200	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr21:46236600-46237200	Enhancers	Primary B cells from cord blood	blood
37	chr21:46236600-46237200	Weak transcription	Primary T cells from cord blood	blood
38	chr21:46236600-46237200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr21:46236600-46237200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr21:46236600-46237200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
41	chr21:46236600-46237200	Weak transcription	Brain Substantia Nigra	brain
42	chr21:46236600-46237200	Enhancers	Pancreas	Pancrea
43	chr21:46236600-46237200	Enhancers	Psoas Muscle	Psoas
44	chr21:46236600-46237200	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr21:46236600-46237200	Weak transcription	NHEK	skin
46	chr21:46236600-46237400	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr21:46236600-46238600	Active TSS	Rectal Smooth Muscle	rectum
48	chr21:46236600-46238800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr21:46236600-46239000	Active TSS	Hela-S3	cervix
50	chr21:46236800-46237200	Enhancers	Primary B cells from peripheral blood	blood

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