Variant report

Variant	rs173095
Chromosome Location	chr21:46223241-46223242
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:38)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:38 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr21:46220923-46223514	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr21:46220877-46225649	K562	blood:	n/a	n/a
3	POLR2A	chr21:46220980-46225308	K562	blood:	n/a	n/a
4	POLR2A	chr21:46221338-46225872	GM12878	blood:	n/a	n/a
5	MAX	chr21:46221015-46223263	HepG2	liver:	n/a	chr21:46222000-46222009 chr21:46222236-46222243
6	POLR2A	chr21:46220710-46226000	K562	blood:	n/a	n/a
7	POLR2A	chr21:46220981-46225932	K562	blood:	n/a	n/a
8	POLR2A	chr21:46221323-46224680	GM12892	blood:	n/a	n/a
9	POLR2A	chr21:46221514-46223986	GM12878	blood:	n/a	n/a
10	MTA3	chr21:46221473-46223265	GM12878	blood:	n/a	n/a
11	POLR2A	chr21:46220458-46225731	K562	blood:	n/a	n/a
12	TBL1XR1	chr21:46223021-46223397	K562	blood:	n/a	n/a
13	POLR2A	chr21:46222035-46224585	GM12892	blood:	n/a	n/a
14	POLR2A	chr21:46221076-46225970	GM12878	blood:	n/a	n/a
15	MXI1	chr21:46219626-46223381	SK-N-SH	brain:	n/a	n/a
16	POLR2A	chr21:46222351-46225533	GM12878	blood:	n/a	n/a
17	POLR2A	chr21:46221326-46226084	HepG2	liver:	n/a	n/a
18	POLR2A	chr21:46221340-46225636	GM12892	blood:	n/a	n/a
19	POLR2A	chr21:46221463-46223262	GM18505	blood:	n/a	n/a
20	POLR2A	chr21:46220647-46225708	SK-N-MC	brain:	n/a	n/a
21	POLR2A	chr21:46221503-46223502	HepG2	liver:	n/a	n/a
22	POLR2A	chr21:46221298-46224011	MCF-7	breast:	n/a	n/a
23	POLR2A	chr21:46220865-46226037	GM12891	blood:	n/a	n/a
24	POLR2A	chr21:46221412-46224646	GM12891	blood:	n/a	n/a
25	MAX	chr21:46221273-46223294	HepG2	liver:	n/a	chr21:46222000-46222009 chr21:46222236-46222243
26	POLR2A	chr21:46222085-46225519	GM12891	blood:	n/a	n/a
27	POLR2A	chr21:46221531-46223245	K562	blood:	n/a	n/a
28	POLR2A	chr21:46221550-46227421	K562	blood:	n/a	n/a
29	POLR2A	chr21:46222278-46224311	GM12891	blood:	n/a	n/a
30	PML	chr21:46222232-46224061	K562	blood:	n/a	n/a
31	POLR2A	chr21:46220826-46224367	PBDE	blood:	n/a	n/a
32	POLR2A	chr21:46222376-46225739	HepG2	liver:	n/a	n/a
33	POLR2A	chr21:46223188-46223436	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr21:46221486-46225982	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr21:46221077-46225480	PFSK-1	brain:	n/a	n/a
36	POLR2A	chr21:46223028-46223890	MCF10A-Er-Src	breast:	n/a	n/a
37	NRF1	chr21:46223220-46223658	K562	blood:	n/a	n/a
38	POLR2A	chr21:46222508-46223272	HepG2	liver:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46218606..46224662-chr21:46357422..46363606,13	MCF-7	breast:
2	chr21:46222712..46224808-chr21:46281066..46282729,2	MCF-7	breast:
3	chr21:46218558..46223428-chr21:46289542..46296056,15	MCF-7	breast:
4	chr21:46220974..46223841-chr21:46346856..46349461,2	K562	blood:
5	chr21:46220554..46223722-chr21:46306934..46310028,3	MCF-7	breast:
6	chr21:46220974..46223825-chr21:46494380..46498218,5	MCF-7	breast:
7	chr1:110881656..110882311-chr21:46223033..46223646,2	NB4	blood:
8	chr21:46220930..46225769-chr21:46292170..46294469,5	K562	blood:
9	chr21:46220413..46223818-chr21:46291771..46295209,8	K562	blood:
10	chr21:45927714..45931885-chr21:46220128..46224260,6	MCF-7	breast:
11	chr21:46217105..46224485-chr21:46287607..46297526,26	MCF-7	breast:
12	chr21:46220228..46226309-chr21:46349546..46355767,8	K562	blood:

No data

Variant related genes	Relation type
UBE2G2	TF binding region
ENSG00000227963	Chromatin interaction
ENSG00000273027	Chromatin interaction
ENSG00000183250	Chromatin interaction
ENSG00000162775	Chromatin interaction
ENSG00000160255	Chromatin interaction
ENSG00000235890	Chromatin interaction
ENSG00000197381	Chromatin interaction
ENSG00000160256	Chromatin interaction
ENSG00000183255	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs170959	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs173097	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs180313	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs184634	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs186848	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235274	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235291	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235292	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235293	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235335	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235336	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235350	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235355	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235359	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235364	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235365	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235367	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235368	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2570974	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34800103	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs611462	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

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	chr21:46222600-46223600	Transcr. at gene 5' and 3'	K562	blood
3	chr21:46222600-46224600	Weak transcription	Brain Angular Gyrus	brain
4	chr21:46222600-46224800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr21:46222600-46224800	Weak transcription	Aorta	Aorta
6	chr21:46222600-46224800	Weak transcription	Left Ventricle	heart
7	chr21:46222600-46224800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr21:46222600-46225000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr21:46222600-46226200	Weak transcription	Esophagus	oesophagus
10	chr21:46222600-46226800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr21:46222600-46234800	Weak transcription	Right Atrium	heart
12	chr21:46222600-46236400	Weak transcription	Stomach Mucosa	stomach
13	chr21:46222600-46237200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr21:46222800-46223400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr21:46222800-46223600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr21:46222800-46224000	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr21:46222800-46224200	Weak transcription	Primary T cells from cord blood	blood
18	chr21:46222800-46224200	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr21:46222800-46224600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr21:46222800-46224800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr21:46222800-46224800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr21:46222800-46224800	Weak transcription	Brain Substantia Nigra	brain
23	chr21:46222800-46224800	Weak transcription	Fetal Brain Female	brain
24	chr21:46222800-46224800	Weak transcription	Ovary	ovary
25	chr21:46222800-46224800	Weak transcription	Pancreas	Pancrea
26	chr21:46222800-46224800	Weak transcription	Rectal Smooth Muscle	rectum
27	chr21:46222800-46224800	Weak transcription	Thymus	Thymus
28	chr21:46222800-46224800	Weak transcription	NHDF-Ad	bronchial
29	chr21:46222800-46225000	Weak transcription	Primary B cells from peripheral blood	blood
30	chr21:46222800-46225000	Weak transcription	Brain Hippocampus Middle	brain
31	chr21:46222800-46225200	Weak transcription	Fetal Brain Male	brain
32	chr21:46222800-46225200	Weak transcription	Fetal Kidney	kidney
33	chr21:46222800-46225400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr21:46222800-46226400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr21:46222800-46226400	Weak transcription	Gastric	stomach
36	chr21:46222800-46226600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr21:46222800-46236400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr21:46222800-46237200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr21:46223000-46223400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr21:46223000-46223400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr21:46223000-46223400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr21:46223000-46223400	Genic enhancers	HUES64 Cell Line	embryonic stem cell
43	chr21:46223000-46223400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr21:46223000-46223400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr21:46223000-46223400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr21:46223000-46223400	Genic enhancers	Cortex derived primary cultured neurospheres	brain
47	chr21:46223000-46223400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr21:46223000-46223400	Weak transcription	Fetal Muscle Trunk	muscle
49	chr21:46223000-46223400	Enhancers	A549	lung
50	chr21:46223000-46223400	Enhancers	HepG2	liver

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