Variant report

Variant	rs73371178
Chromosome Location	chr21:45363817-45363818
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr21:45363803-45364452	K562	blood:	n/a	n/a
2	E2F6	chr21:45363594-45364068	H1-hESC	embryonic stem cell:	n/a	chr21:45363790-45363797 chr21:45363789-45363801 chr21:45363790-45363797 chr21:45363790-45363797

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:45363775-45363825	PFSK-1	brain:	n/a
2	chr21:45363775-45363825	MCF10A-Er-Src	breast:	n/a
3	chr21:45363775-45363825	RPTEC	kidney:	n/a
4	chr21:45363775-45363825	NH-A	brain:	n/a
5	chr21:45363775-45363825	HEK293	kidney:	embryo
6	chr21:45363775-45363825	Jurkat	blood:	n/a
7	chr21:45363775-45363825	A549	lung:	n/a
8	chr21:45363775-45363825	Hela-S3	cervix:	n/a
9	chr21:45363775-45363825	NT2-D1	testis:	n/a
10	chr21:45363775-45363825	SK-N-SH_RA	brain:	n/a
11	chr21:45363775-45363825	GM12891	blood:	n/a
12	chr21:45363775-45363825	SKMC	muscle:	n/a
13	chr21:45363775-45363825	T-47D	breast:	n/a
14	chr21:45363775-45363825	BE2_C	brain:	n/a
15	chr21:45363775-45363825	CMK	blood:	n/a
16	chr21:45363775-45363825	ProgFib	skin:	n/a
17	chr21:45363775-45363825	NHDF-neo	bronchial:	n/a
18	chr21:45363775-45363825	HRPEpiC	eye:	n/a
19	chr21:45363775-45363825	AG04449	skin:	fetal
20	chr21:45363775-45363825	HCPEpiC	choroid plexus:	n/a
21	chr21:45363775-45363825	Caco-2	colon:	n/a
22	chr21:45363775-45363825	NHBE	bronchial:	n/a
23	chr21:45363775-45363825	LNCaP	prostate:	n/a
24	chr21:45363775-45363825	AoSMC	blood vessel:	n/a
25	chr21:45363775-45363825	H1-hESC	embryonic stem cell:	embryo
26	chr21:45363775-45363825	SAEC	small airway:	n/a
27	chr21:45363775-45363825	HPAEpiC	pulmonary alveolar:	n/a
28	chr21:45363775-45363825	HAEpiC	amniotic membrane:	n/a
29	chr21:45363775-45363825	HCM	heart:	n/a
30	chr21:45363775-45363825	AG09309	skin:	n/a
31	chr21:45363775-45363825	GM12878	blood:	n/a
32	chr21:45363775-45363825	GM06990	blood:	n/a
33	chr21:45363775-45363825	SK-N-SH	brain:	n/a
34	chr21:45363775-45363825	AG04450	lung:	fetal
35	chr21:45363775-45363825	AG10803	skin:	n/a
36	chr21:45363775-45363825	HNPCEpiC	eye:	n/a
37	chr21:45363775-45363825	Hepatocyte	liver:	n/a
38	chr21:45363775-45363825	AG09319	gingival:	n/a
39	chr21:45363775-45363825	HEEpiC	esophagus:	n/a
40	chr21:45363775-45363825	HUVEC	blood vessel:	n/a
41	chr21:45363775-45363825	K562	blood:	n/a
42	chr21:45363775-45363825	ECC-1	luminal epithelium:	n/a
43	chr21:45363775-45363825	SK-N-MC	brain:	n/a
44	chr21:45363775-45363825	U87	brain:	n/a
45	chr21:45363775-45363825	PrEC	prostate:	n/a
46	chr21:45363775-45363825	BJ	skin:	n/a
47	chr21:45363775-45363825	PANC-1	pancreas:	n/a
48	chr21:45363775-45363825	HRCEpiC	kidney:	n/a
49	chr21:45363775-45363825	HepG2	liver:	n/a
50	chr21:45363775-45363825	HIPEpiC	eye:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45354193..45356078-chr21:45363330..45365754,2	MCF-7	breast:
2	chr21:45363094..45365051-chr21:45388875..45391013,2	MCF-7	breast:
3	chr21:45361847..45364685-chr21:45436825..45439426,2	K562	blood:
4	chr21:45232218..45234898-chr21:45363794..45365365,2	MCF-7	breast:
5	chr21:45227134..45230891-chr21:45361693..45364887,4	K562	blood:
6	chr21:45355633..45358053-chr21:45363187..45364790,2	K562	blood:
7	chr21:45362716..45365648-chr21:45369841..45372206,2	MCF-7	breast:

No data

Variant related genes	Relation type
AGPAT3	TF binding region
AGPAT3	CpG island
ENSG00000160216	Chromatin interaction
ENSG00000215458	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2329630	1.00[EUR][1000 genomes]
rs2838448	1.00[EUR][1000 genomes]
rs59464702	1.00[EUR][1000 genomes]
rs73371158	1.00[EUR][1000 genomes]
rs73371191	1.00[EUR][1000 genomes]
rs73373123	1.00[EUR][1000 genomes]
rs73906640	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	nsv913887	chr21:45344799-45670770	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
6	nsv913888	chr21:45351206-45428278	Genic enhancers Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv1055772	chr21:45353436-45373304	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv913889	chr21:45361044-45414119	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45343000-45372400	Weak transcription	Small Intestine	intestine
2	chr21:45343800-45379800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr21:45350400-45364000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr21:45352400-45368000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr21:45353600-45366600	Weak transcription	Fetal Brain Female	brain
6	chr21:45359000-45364000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr21:45359000-45364000	Weak transcription	Brain Substantia Nigra	brain
8	chr21:45359000-45368800	Weak transcription	Brain Angular Gyrus	brain
9	chr21:45359000-45369200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr21:45359000-45369200	Weak transcription	Brain Germinal Matrix	brain
11	chr21:45359000-45371400	Weak transcription	HSMMtube	muscle
12	chr21:45359200-45364200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr21:45359200-45364600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr21:45359200-45366400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr21:45359200-45366600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr21:45359200-45368000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr21:45359200-45368000	Strong transcription	Fetal Stomach	stomach
18	chr21:45359200-45368400	Weak transcription	HSMM	muscle
19	chr21:45359200-45368800	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr21:45359200-45376000	Weak transcription	HUVEC	blood vessel
21	chr21:45359200-45378800	Weak transcription	NHEK	skin
22	chr21:45359200-45379000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr21:45359400-45364000	Weak transcription	Placenta	Placenta
24	chr21:45359400-45364000	Weak transcription	Fetal Thymus	thymus
25	chr21:45359400-45364000	Weak transcription	Left Ventricle	heart
26	chr21:45359400-45368600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr21:45359400-45369800	Weak transcription	Right Atrium	heart
28	chr21:45359400-45370200	Weak transcription	Hela-S3	cervix
29	chr21:45359400-45371800	Weak transcription	Stomach Mucosa	stomach
30	chr21:45359400-45376000	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr21:45359400-45389000	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr21:45359600-45365600	Weak transcription	Adipose Nuclei	Adipose
33	chr21:45359600-45366600	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr21:45359600-45366600	Weak transcription	Pancreas	Pancrea
35	chr21:45359600-45367800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr21:45359600-45367800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr21:45359600-45367800	Weak transcription	Colon Smooth Muscle	Colon
38	chr21:45359600-45367800	Weak transcription	K562	blood
39	chr21:45359600-45368000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr21:45359600-45368400	Weak transcription	Primary B cells from peripheral blood	blood
41	chr21:45359600-45368400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr21:45359600-45368800	Weak transcription	Brain Anterior Caudate	brain
43	chr21:45359600-45369000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr21:45359600-45369200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr21:45359800-45364200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr21:45359800-45369200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr21:45359800-45376400	Weak transcription	NHLF	lung
48	chr21:45360000-45364800	Weak transcription	Dnd41	blood
49	chr21:45360200-45365800	Weak transcription	Stomach Smooth Muscle	stomach
50	chr21:45360200-45366600	Weak transcription	GM12878-XiMat	blood

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