Variant report

Variant	rs6383
Chromosome Location	chr21:45194643-45194644
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45175274..45178845-chr21:45192010..45195975,4	K562	blood:
2	chr21:45088891..45092342-chr21:45193959..45195914,3	K562	blood:
3	chr21:45193105..45194812-chr21:45202001..45204627,2	MCF-7	breast:
4	chr21:45138069..45142004-chr21:45192681..45200004,8	MCF-7	breast:
5	chr21:45193334..45196312-chr21:45207752..45211007,4	MCF-7	breast:
6	chr21:45193906..45196164-chr21:45723506..45725862,2	K562	blood:
7	chr21:45141572..45144183-chr21:45194386..45198670,4	K562	blood:
8	chr21:45077212..45079990-chr21:45193841..45196934,5	MCF-7	breast:
9	chr21:45193472..45195191-chr21:45212602..45214337,2	K562	blood:
10	chr21:45151886..45156250-chr21:45192617..45197213,5	MCF-7	breast:
11	chr21:45165363..45167088-chr21:45194223..45196266,2	MCF-7	breast:
12	chr21:45194435..45196529-chr21:45430535..45433342,2	MCF-7	breast:
13	chr21:45176342..45178590-chr21:45192932..45195099,2	MCF-7	breast:
14	chr21:45192905..45195528-chr21:45235425..45238416,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000160209	Chromatin interaction
ENSG00000160207	Chromatin interaction
ENSG00000141959	Chromatin interaction
ENSG00000160218	Chromatin interaction
ENSG00000160214	Chromatin interaction
ENSG00000234030	Chromatin interaction
ENSG00000160208	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs28490099	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28581805	1.00[EUR][1000 genomes]
rs57815996	1.00[EUR][1000 genomes]
rs59339575	1.00[EUR][1000 genomes]
rs61299327	1.00[EUR][1000 genomes]
rs73908377	1.00[EUR][1000 genomes]
rs73908383	1.00[EUR][1000 genomes]
rs8127335	1.00[EUR][1000 genomes]
rs8129408	1.00[EUR][1000 genomes]
rs8129421	1.00[EUR][1000 genomes]
rs8132097	1.00[EUR][1000 genomes]
rs8132862	1.00[EUR][1000 genomes]
rs9974076	1.00[EUR][1000 genomes]
rs9978334	1.00[EUR][1000 genomes]
rs9979923	1.00[EUR][1000 genomes]
rs9984929	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531544	chr21:45071371-45202912	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv531545	chr21:45095397-45395904	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv913876	chr21:45119629-45267193	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	esv2830066	chr21:45133868-45258047	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	nsv913879	chr21:45145286-45237039	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv913880	chr21:45145286-45263920	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv913881	chr21:45145286-45267193	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	nsv1055154	chr21:45148076-45203162	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	nsv470904	chr21:45151045-45258047	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
10	nsv913882	chr21:45151874-45370715	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
11	nsv834107	chr21:45155325-45294546	Enhancers Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
12	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
13	nsv520305	chr21:45175958-45246326	Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
14	nsv834108	chr21:45178037-45369641	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
15	nsv913883	chr21:45191139-45252838	Weak transcription Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
16	nsv913884	chr21:45191139-45255836	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
17	nsv544469	chr21:45194085-45257959	Active TSS Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 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	chr21:45174400-45195200	Weak transcription	Psoas Muscle	Psoas
2	chr21:45177000-45195200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr21:45188600-45195200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr21:45192400-45195000	Strong transcription	NHEK	skin
5	chr21:45192600-45194800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr21:45192600-45194800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr21:45192600-45194800	Strong transcription	NH-A	brain
8	chr21:45192800-45194800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr21:45192800-45195000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
10	chr21:45192800-45195400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr21:45193000-45194800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr21:45193000-45194800	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr21:45193000-45194800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr21:45193000-45194800	Strong transcription	Primary B cells from peripheral blood	blood
15	chr21:45193000-45195000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr21:45193000-45195400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr21:45193200-45194800	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr21:45193400-45194800	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr21:45193600-45194800	Genic enhancers	HSMMtube	muscle
20	chr21:45193600-45195000	Genic enhancers	Fetal Muscle Trunk	muscle
21	chr21:45193600-45195000	Genic enhancers	Fetal Thymus	thymus
22	chr21:45193600-45195000	Genic enhancers	Right Ventricle	heart
23	chr21:45193600-45195400	Transcr. at gene 5' and 3'	Esophagus	oesophagus
24	chr21:45193800-45195000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr21:45193800-45195200	Weak transcription	Small Intestine	intestine
26	chr21:45194000-45194800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr21:45194000-45194800	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr21:45194000-45194800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr21:45194000-45194800	Transcr. at gene 5' and 3'	Hela-S3	cervix
30	chr21:45194000-45195000	Genic enhancers	Fetal Muscle Leg	muscle
31	chr21:45194000-45195200	Enhancers	Right Atrium	heart
32	chr21:45194000-45195400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr21:45194200-45194800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr21:45194200-45194800	Genic enhancers	Adipose Nuclei	Adipose
35	chr21:45194200-45194800	Genic enhancers	Brain Anterior Caudate	brain
36	chr21:45194200-45194800	Genic enhancers	Brain Germinal Matrix	brain
37	chr21:45194200-45194800	Genic enhancers	Gastric	stomach
38	chr21:45194200-45194800	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
39	chr21:45194200-45195000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr21:45194200-45195000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
41	chr21:45194200-45195000	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr21:45194200-45195000	Genic enhancers	Dnd41	blood
43	chr21:45194200-45195200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr21:45194200-45195200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr21:45194200-45195200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr21:45194200-45195200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr21:45194200-45195200	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr21:45194200-45195200	Enhancers	Pancreas	Pancrea
49	chr21:45194400-45194800	Weak transcription	Primary B cells from cord blood	blood
50	chr21:45194400-45194800	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links