Variant report

Variant	rs61094968
Chromosome Location	chr21:37692050-37692051
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	chr21:37692025-37693338	H1-neurons	neurons:	n/a	n/a
2	TEAD4	chr21:37691948-37693647	K562	blood:	n/a	n/a
3	RUNX3	chr21:37691972-37693279	GM12878	blood:	n/a	n/a
4	GABPA	chr21:37692028-37692827	SK-N-SH	brain:	n/a	chr21:37692307-37692321 chr21:37692310-37692324 chr21:37692310-37692319 chr21:37692310-37692321 chr21:37692312-37692321 chr21:37692774-37692783
5	POLR2A	chr21:37692028-37693569	GM19099	blood:	n/a	n/a
6	PML	chr21:37691917-37693682	GM12878	blood:	n/a	n/a
7	POLR2A	chr21:37691998-37693426	MCF-7	breast:	n/a	n/a
8	PBX3	chr21:37692019-37693339	SK-N-SH	brain:	n/a	n/a
9	REST	chr21:37691803-37693628	H1-neurons	neurons:	n/a	chr21:37692771-37692784
10	NR2F2	chr21:37691797-37692675	K562	blood:	n/a	n/a
11	PML	chr21:37692003-37692689	K562	blood:	n/a	n/a
12	MAX	chr21:37691943-37693466	HCT-116	colon:	n/a	chr21:37692438-37692448 chr21:37692974-37692984
13	ATF2	chr21:37692008-37692566	H1-hESC	embryonic stem cell:	n/a	n/a
14	GABPA	chr21:37691938-37692931	MCF-7	breast:	n/a	chr21:37692307-37692321 chr21:37692310-37692324 chr21:37692310-37692319 chr21:37692310-37692321 chr21:37692312-37692321 chr21:37692774-37692783
15	UBTF	chr21:37692050-37694381	K562	blood:	n/a	n/a
16	POLR2A	chr21:37692037-37693541	K562	blood:	n/a	n/a
17	ARID3A	chr21:37692010-37692578	K562	blood:	n/a	n/a
18	POLR2A	chr21:37692044-37693266	HCT-116	colon:	n/a	n/a
19	GTF3C2	chr21:37691463-37692257	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr21:37692029-37693199	MCF-7	breast:	n/a	n/a
21	TAF1	chr21:37691985-37693311	H1-hESC	embryonic stem cell:	n/a	n/a
22	MAX	chr21:37692038-37693201	H1-hESC	embryonic stem cell:	n/a	chr21:37692438-37692448 chr21:37692974-37692984
23	POLR2A	chr21:37691863-37693447	SK-N-MC	brain:	n/a	n/a
24	KAP1	chr21:37692048-37692577	U2OS	brain:	n/a	n/a
25	POLR2A	chr21:37691950-37693328	HUVEC	blood vessel:	n/a	n/a
26	CHD1	chr21:37691947-37692142	H1-hESC	embryonic stem cell:	n/a	n/a
27	CHD2	chr21:37692021-37693265	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr21:37692006-37693670	GM12878	blood:	n/a	n/a
29	POLR2A	chr21:37692040-37693278	HCT-116	colon:	n/a	n/a
30	BCLAF1	chr21:37692007-37693193	GM12878	blood:	n/a	chr21:37692766-37692779 chr21:37692770-37692783 chr21:37692465-37692474 chr21:37692427-37692436 chr21:37693022-37693031
31	MAX	chr21:37692000-37693507	Hela-S3	cervix:	n/a	chr21:37692438-37692448 chr21:37692974-37692984
32	SRF	chr21:37691991-37692824	MCF-7	breast:	n/a	chr21:37692774-37692784
33	RCOR1	chr21:37691992-37693693	GM12878	blood:	n/a	n/a
34	CEBPB	chr21:37691648-37692657	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr21:37691957-37693383	Hela-S3	cervix:	n/a	n/a
36	ELF1	chr21:37691998-37693058	HCT-116	colon:	n/a	chr21:37693019-37693031 chr21:37692464-37692473 chr21:37692463-37692474 chr21:37692423-37692436 chr21:37692463-37692474 chr21:37692426-37692435
37	POLR2A	chr21:37692044-37693507	K562	blood:	n/a	n/a
38	MAZ	chr21:37692027-37693691	GM12878	blood:	n/a	chr21:37692438-37692448 chr21:37692974-37692984
39	E2F6	chr21:37691985-37692699	H1-hESC	embryonic stem cell:	n/a	chr21:37692311-37692320
40	RFX5	chr21:37692023-37692665	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr21:37691999-37693285	ECC-1	luminal epithelium:	n/a	n/a
42	STAT1	chr21:37692039-37693561	Hela-S3	cervix:	n/a	chr21:37693200-37693214 chr21:37693201-37693212
43	RPC155	chr21:37691515-37692206	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr21:37692026-37693588	GM12891	blood:	n/a	n/a
45	MXI1	chr21:37691928-37694708	SK-N-SH	brain:	n/a	n/a
46	USF2	chr21:37692041-37692548	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr21:37692005-37693370	K562	blood:	n/a	n/a
48	HCFC1	chr21:37691851-37694447	Hela-S3	cervix:	n/a	n/a
49	CREB1	chr21:37692048-37693146	GM12878	blood:	n/a	n/a
50	IRF1	chr21:37692016-37694546	K562	blood:	n/a	chr21:37692805-37692819 chr21:37694133-37694147 chr21:37693289-37693303 chr21:37692808-37692822 chr21:37692809-37692819 chr21:37692809-37692823 chr21:37692437-37692451

No.	Distal block	Cell Line	Cell type
1	chr21:37691256..37694526-chr21:37756773..37759502,4	K562	blood:
2	chr21:37504506..37509965-chr21:37691548..37695939,8	MCF-7	breast:
3	chr21:37505606..37508868-chr21:37690697..37693913,3	MCF-7	breast:
4	chr21:37691063..37692981-chr21:37719581..37721765,2	K562	blood:
5	chr21:37431156..37433849-chr21:37691646..37694370,2	MCF-7	breast:
6	chr21:37520796..37523576-chr21:37691048..37693760,3	MCF-7	breast:
7	chr21:37526803..37530706-chr21:37691661..37694451,10	MCF-7	breast:
8	chr21:37691326..37694342-chr21:37717275..37721197,4	MCF-7	breast:
9	chr21:37683024..37684691-chr21:37689864..37692362,2	K562	blood:
10	chr21:37664802..37668614-chr21:37691689..37695476,4	K562	blood:
11	chr20:30194900..30195459-chr21:37691644..37692337,2	Hela-S3	cervix:
12	chr21:37524187..37529120-chr21:37690822..37693883,5	K562	blood:
13	chr21:37527404..37530470-chr21:37690939..37693767,3	K562	blood:
14	chr21:37690897..37695461-chr21:37701805..37709412,12	MCF-7	breast:
15	chr21:37690927..37695092-chr21:37755797..37759502,6	K562	blood:

Variant related genes	Relation type
MORC3	TF binding region
ENSG00000185917	Chromatin interaction
ENSG00000159259	Chromatin interaction
ENSG00000142197	Chromatin interaction
ENSG00000159256	Chromatin interaction
ENSG00000236830	Chromatin interaction
ENSG00000159231	Chromatin interaction
ENSG00000236677	Chromatin interaction
ENSG00000214889	Chromatin interaction
ENSG00000214867	Chromatin interaction
ENSG00000264395	Chromatin interaction

Extended variants
information (count: 25 )
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	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11910447	0.99[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	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59270005	1.00[EUR][1000 genomes]
rs73381587	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73381588	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73381599	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73381601	1.00[EUR][1000 genomes]
rs73383707	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73383713	0.90[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	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73383719	0.86[AFR][1000 genomes]
rs73383722	1.00[EUR][1000 genomes]
rs73385706	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	esv3449475	chr21:37539524-37700336	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	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:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:37691400-37693400	Active TSS	Monocytes-CD14+_RO01746	blood
2	chr21:37691400-37693600	Active TSS	Hela-S3	cervix
3	chr21:37691600-37692200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr21:37691600-37692400	Flanking Active TSS	Placenta	Placenta
5	chr21:37691600-37693200	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr21:37691600-37693200	Active TSS	Stomach Smooth Muscle	stomach
7	chr21:37691600-37693400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr21:37691600-37693400	Active TSS	Liver	Liver
9	chr21:37691600-37693400	Active TSS	K562	blood
10	chr21:37691600-37693800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr21:37691600-37693800	Active TSS	Rectal Smooth Muscle	rectum
12	chr21:37691600-37693800	Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr21:37691600-37694000	Active TSS	H9 Cell Line	embryonic stem cell
14	chr21:37691600-37694000	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr21:37691600-37694000	Active TSS	Sigmoid Colon	Sigmoid Colon
16	chr21:37691600-37694000	Active TSS	A549	lung
17	chr21:37691600-37694200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr21:37691800-37692200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
19	chr21:37691800-37692200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr21:37691800-37692200	Flanking Active TSS	Fetal Muscle Leg	muscle
21	chr21:37691800-37692400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr21:37691800-37692400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
23	chr21:37691800-37692400	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr21:37691800-37692400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr21:37691800-37692400	Flanking Active TSS	Fetal Muscle Trunk	muscle
26	chr21:37691800-37692400	Flanking Active TSS	Dnd41	blood
27	chr21:37691800-37692800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr21:37691800-37693000	Active TSS	HepG2	liver
29	chr21:37691800-37693400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr21:37691800-37693400	Active TSS	Cortex derived primary cultured neurospheres	brain
31	chr21:37691800-37693400	Active TSS	Adipose Nuclei	Adipose
32	chr21:37691800-37693400	Active TSS	Brain Anterior Caudate	brain
33	chr21:37691800-37693400	Active TSS	Brain Germinal Matrix	brain
34	chr21:37691800-37693400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
35	chr21:37691800-37693400	Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr21:37691800-37693400	Active TSS	HUVEC	blood vessel
37	chr21:37691800-37693400	Active TSS	Osteobl	bone
38	chr21:37691800-37693600	Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr21:37691800-37693600	Active TSS	Fetal Lung	lung
40	chr21:37691800-37693800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr21:37691800-37693800	Active TSS	Fetal Intestine Small	intestine
42	chr21:37691800-37693800	Active TSS	NHEK	skin
43	chr21:37691800-37694000	Active TSS	H1 Cell Line	embryonic stem cell
44	chr21:37691800-37694000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr21:37691800-37694000	Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr21:37691800-37694000	Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr21:37691800-37694000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr21:37691800-37694000	Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr21:37691800-37694000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr21:37691800-37694000	Active TSS	Brain Cingulate Gyrus	brain

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