Variant report

Variant	rs73381588
Chromosome Location	chr21:37701706-37701707
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr21:37701486-37701867	U87	brain:	n/a	n/a
2	POLR2A	chr21:37701528-37701867	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:37691736..37693652-chr21:37700635..37703189,2	MCF-7	breast:
2	chr21:37679546..37681721-chr21:37700551..37703291,2	MCF-7	breast:
3	chr21:37696119..37698828-chr21:37701284..37703538,3	MCF-7	breast:
4	chr21:37526046..37528882-chr21:37699738..37702478,2	MCF-7	breast:

Variant related genes	Relation type
MORC3	TF binding region
ENSG00000236830	Chromatin interaction
ENSG00000159256	Chromatin interaction
ENSG00000273199	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10483033	1.00[EUR][1000 genomes]
rs11909470	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11909757	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11910005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11910447	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11911904	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16994069	1.00[EUR][1000 genomes]
rs28688747	1.00[EUR][1000 genomes]
rs57154050	1.00[EUR][1000 genomes]
rs59261999	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59270005	1.00[EUR][1000 genomes]
rs61094968	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73381587	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73381599	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73381601	1.00[EUR][1000 genomes]
rs73383707	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73383713	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73383714	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73383715	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73383719	0.87[AFR][1000 genomes]
rs73383722	1.00[EUR][1000 genomes]
rs73385706	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33578	chr21:37488312-37819627	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv913734	chr21:37617630-37718587	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:37693600-37702800	Weak transcription	Ovary	ovary
2	chr21:37694200-37709600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr21:37694400-37702200	Weak transcription	Colonic Mucosa	Colon
4	chr21:37694400-37702800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr21:37694400-37703200	Weak transcription	Fetal Kidney	kidney
6	chr21:37694400-37709200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr21:37694400-37713000	Weak transcription	Esophagus	oesophagus
8	chr21:37694400-37713600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr21:37694400-37718200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr21:37694600-37705600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr21:37694600-37706200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr21:37694600-37709000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr21:37695000-37704400	Weak transcription	Aorta	Aorta
14	chr21:37695000-37706400	Weak transcription	Thymus	Thymus
15	chr21:37695000-37713800	Weak transcription	Fetal Brain Male	brain
16	chr21:37695600-37702200	Weak transcription	Brain Germinal Matrix	brain
17	chr21:37695600-37702400	Strong transcription	Fetal Thymus	thymus
18	chr21:37695800-37702600	Weak transcription	Fetal Heart	heart
19	chr21:37695800-37708800	Weak transcription	HSMMtube	muscle
20	chr21:37696000-37703000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr21:37696000-37705400	Weak transcription	Dnd41	blood
22	chr21:37696000-37708600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr21:37696200-37702200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr21:37696200-37703000	Strong transcription	Fetal Stomach	stomach
25	chr21:37697400-37702200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr21:37697400-37706200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr21:37697400-37710200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr21:37697600-37706800	Weak transcription	Placenta	Placenta
29	chr21:37697800-37705400	Weak transcription	Fetal Brain Female	brain
30	chr21:37697800-37706000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr21:37698000-37701800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr21:37698000-37702800	Weak transcription	Stomach Smooth Muscle	stomach
33	chr21:37698000-37703000	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr21:37698000-37705400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr21:37698000-37706800	Weak transcription	Hela-S3	cervix
36	chr21:37698200-37701800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr21:37698200-37701800	Weak transcription	Adipose Nuclei	Adipose
38	chr21:37698200-37702200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr21:37698200-37702200	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr21:37698200-37702400	Weak transcription	Psoas Muscle	Psoas
41	chr21:37698200-37702400	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr21:37698200-37702800	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr21:37698200-37703000	Weak transcription	A549	lung
44	chr21:37698200-37703000	Weak transcription	HMEC	breast
45	chr21:37698200-37704400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr21:37698200-37704600	Weak transcription	Fetal Lung	lung
47	chr21:37698200-37705400	Weak transcription	NHEK	skin
48	chr21:37698200-37705800	Enhancers	Liver	Liver
49	chr21:37698200-37708800	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr21:37698400-37705400	Weak transcription	HUES64 Cell Line	embryonic stem cell

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