Variant report

Variant	rs11909916
Chromosome Location	chr21:45079841-45079842
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	CREB1	chr21:45078866-45080011	HepG2	liver:	n/a	chr21:45079402-45079415
2	MAX	chr21:45079029-45080022	SK-N-SH	brain:	n/a	chr21:45079768-45079775 chr21:45079315-45079322 chr21:45079314-45079323
3	POLR2A	chr21:45078985-45080792	GM12892	blood:	n/a	n/a
4	REST	chr21:45078768-45080337	H1-neurons	neurons:	n/a	n/a
5	SRF	chr21:45079041-45080042	MCF-7	breast:	n/a	n/a
6	TEAD4	chr21:45078932-45079980	ECC-1	luminal epithelium:	n/a	n/a
7	CHD1	chr21:45079244-45079923	GM12878	blood:	n/a	chr21:45079396-45079403
8	POLR2A	chr21:45079118-45080144	IMR90	lung:	n/a	n/a
9	MAX	chr21:45079078-45079952	GM12878	blood:	n/a	chr21:45079768-45079775 chr21:45079315-45079322 chr21:45079314-45079323
10	MAX	chr21:45079032-45080043	SK-N-SH	brain:	n/a	chr21:45079768-45079775 chr21:45079315-45079322 chr21:45079314-45079323
11	POLR2A	chr21:45079122-45079914	K562	blood:	n/a	n/a
12	RCOR1	chr21:45079144-45080170	K562	blood:	n/a	n/a
13	REST	chr21:45079151-45079980	PFSK-1	brain:	n/a	n/a
14	POLR2A	chr21:45079183-45079924	GM12891	blood:	n/a	n/a
15	POLR2A	chr21:45078865-45079965	Raji	blood:	n/a	n/a
16	MAX	chr21:45079081-45079907	A549	lung:	n/a	chr21:45079768-45079775 chr21:45079315-45079322 chr21:45079314-45079323
17	RUNX3	chr21:45079022-45080119	GM12878	blood:	n/a	n/a
18	MYC	chr21:45079147-45080160	MCF10A-Er-Src	breast:	n/a	chr21:45079768-45079775 chr21:45079315-45079322 chr21:45079314-45079323
19	ZC3H11A	chr21:45079792-45080064	K562	blood:	n/a	n/a
20	MAX	chr21:45078847-45080125	HepG2	liver:	n/a	chr21:45079768-45079775 chr21:45079315-45079322 chr21:45079314-45079323
21	SIN3AK20	chr21:45078890-45080211	MCF-7	breast:	n/a	n/a
22	SIN3AK20	chr21:45079603-45079869	PFSK-1	brain:	n/a	n/a
23	POLR2A	chr21:45079115-45079928	K562	blood:	n/a	n/a
24	YY1	chr21:45079123-45079878	GM12878	blood:	n/a	chr21:45079510-45079524 chr21:45079308-45079322 chr21:45079302-45079316
25	TAF7	chr21:45079093-45079973	H1-hESC	embryonic stem cell:	n/a	n/a
26	MAX	chr21:45078849-45080201	H1-hESC	embryonic stem cell:	n/a	chr21:45079768-45079775 chr21:45079315-45079322 chr21:45079314-45079323
27	RCOR1	chr21:45079159-45079904	GM12878	blood:	n/a	n/a
28	POLR2A	chr21:45078903-45079866	MCF-7	breast:	n/a	n/a
29	POLR2A	chr21:45078821-45080044	MCF-7	breast:	n/a	n/a
30	POLR2A	chr21:45079043-45079985	PFSK-1	brain:	n/a	n/a
31	HEY1	chr21:45079065-45080021	K562	blood:	n/a	chr21:45079303-45079318
32	MAX	chr21:45078890-45080027	A549	lung:	n/a	chr21:45079768-45079775 chr21:45079315-45079322 chr21:45079314-45079323
33	MYC	chr21:45079036-45080120	NB4	blood:	n/a	chr21:45079768-45079775 chr21:45079315-45079322 chr21:45079314-45079323
34	MYC	chr21:45079117-45079940	HepG2	liver:	n/a	chr21:45079768-45079775 chr21:45079315-45079322 chr21:45079314-45079323
35	MAX	chr21:45079083-45079933	HepG2	liver:	n/a	chr21:45079768-45079775 chr21:45079315-45079322 chr21:45079314-45079323
36	MXI1	chr21:45079122-45080190	Hela-S3	cervix:	n/a	n/a
37	CREB1	chr21:45079130-45079929	H1-hESC	embryonic stem cell:	n/a	chr21:45079402-45079415
38	TAF1	chr21:45079113-45079867	HepG2	liver:	n/a	n/a
39	POLR2A	chr21:45079062-45079973	H1-neurons	neurons:	n/a	n/a
40	HA-E2F1	chr21:45079106-45079843	Hela-S3	cervix:	n/a	chr21:45079335-45079344 chr21:45079396-45079403 chr21:45079306-45079315
41	MYC	chr21:45079118-45079929	Hela-S3	cervix:	n/a	chr21:45079768-45079775 chr21:45079315-45079322 chr21:45079314-45079323
42	POLR2A	chr21:45079173-45079860	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr21:45078261-45080594	SK-N-MC	brain:	n/a	n/a
44	POLR2A	chr21:45079138-45080083	GM12878	blood:	n/a	n/a
45	MXI1	chr21:45079082-45080138	GM12878	blood:	n/a	n/a
46	MAX	chr21:45078861-45080020	HepG2	liver:	n/a	chr21:45079768-45079775 chr21:45079315-45079322 chr21:45079314-45079323
47	MXI1	chr21:45078890-45080425	IMR90	lung:	n/a	n/a
48	POLR2A	chr21:45078997-45080000	Hela-S3	cervix:	n/a	n/a
49	TBP	chr21:45079164-45080050	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr21:45079050-45079860	HUVEC	blood vessel:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:45079820-45079870	K562	blood:	n/a
2	chr21:45079820-45079870	AG10803	skin:	n/a
3	chr21:45079820-45079870	GM19239	blood:	n/a
4	chr21:45079820-45079870	HRE	kidney:	n/a
5	chr21:45079820-45079870	HIPEpiC	eye:	n/a
6	chr21:45079820-45079870	HPAEpiC	pulmonary alveolar:	n/a
7	chr21:45079820-45079870	SK-N-SH_RA	brain:	n/a
8	chr21:45079820-45079870	HCF	heart:	n/a
9	chr21:45079820-45079870	AG09309	skin:	n/a
10	chr21:45079820-45079870	HRCEpiC	kidney:	n/a
11	chr21:45079820-45079870	AoSMC	blood vessel:	n/a
12	chr21:45079820-45079870	ProgFib	skin:	n/a
13	chr21:45079820-45079870	NHDF-neo	bronchial:	n/a
14	chr21:45079820-45079870	AG09319	gingival:	n/a
15	chr21:45079820-45079870	HEK293	kidney:	embryo
16	chr21:45079820-45079870	SK-N-MC	brain:	n/a
17	chr21:45079820-45079870	HNPCEpiC	eye:	n/a
18	chr21:45079820-45079870	RPTEC	kidney:	n/a
19	chr21:45079820-45079870	PANC-1	pancreas:	n/a
20	chr21:45079820-45079870	U87	brain:	n/a
21	chr21:45079820-45079870	AG04449	skin:	fetal
22	chr21:45079820-45079870	HepG2	liver:	n/a
23	chr21:45079820-45079870	MCF10A-Er-Src	breast:	n/a
24	chr21:45079820-45079870	Hepatocyte	liver:	n/a
25	chr21:45079820-45079870	GM12891	blood:	n/a
26	chr21:45079820-45079870	T-47D	breast:	n/a
27	chr21:45079820-45079870	SAEC	small airway:	n/a
28	chr21:45079820-45079870	HMEC	breast:	n/a
29	chr21:45079820-45079870	ovcar-3	ovarian:	n/a
30	chr21:45079820-45079870	HEEpiC	esophagus:	n/a
31	chr21:45079820-45079870	NT2-D1	testis:	n/a
32	chr21:45079820-45079870	AG04450	lung:	fetal
33	chr21:45079820-45079870	CMK	blood:	n/a
34	chr21:45079820-45079870	IMR90	lung:	fetal
35	chr21:45079820-45079870	HAEpiC	amniotic membrane:	n/a
36	chr21:45079820-45079870	SK-N-SH	brain:	n/a
37	chr21:45079820-45079870	GM06990	blood:	n/a
38	chr21:45079820-45079870	ECC-1	luminal epithelium:	n/a
39	chr21:45079820-45079870	MCF-7	breast:	n/a
40	chr21:45079820-45079870	HRPEpiC	eye:	n/a
41	chr21:45079820-45079870	PFSK-1	brain:	n/a
42	chr21:45079820-45079870	LNCaP	prostate:	n/a
43	chr21:45079820-45079870	Jurkat	blood:	n/a
44	chr21:45079820-45079870	GM12878	blood:	n/a
45	chr21:45079820-45079870	Hela-S3	cervix:	n/a
46	chr21:45079820-45079870	HCM	heart:	n/a
47	chr21:45079820-45079870	BJ	skin:	n/a
48	chr21:45079820-45079870	HCT-116	colon:	n/a
49	chr21:45079820-45079870	HL-60	blood:	n/a
50	chr21:45079820-45079870	GM12892	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:45076259..45080839-chr21:45207005..45211007,4	MCF-7	breast:
2	chr21:44845531..44847121-chr21:45079571..45081083,2	K562	blood:
3	chr21:44844515..44847094-chr21:45079268..45081005,2	MCF-7	breast:
4	chr21:45077838..45080620-chr21:45152184..45154376,2	MCF-7	breast:
5	chr21:45077768..45080499-chr21:45194775..45197148,2	MCF-7	breast:
6	chr21:45078168..45080813-chr21:45138258..45142239,4	K562	blood:
7	chr21:45079723..45081504-chr21:45208735..45210718,2	K562	blood:
8	chr21:45077264..45080546-chr21:45137817..45144125,9	MCF-7	breast:
9	chr10:30721466..30724212-chr21:45078300..45080802,2	MCF-7	breast:
10	chr21:45079804..45082732-chr21:45140851..45143406,2	MCF-7	breast:
11	chr21:44845531..44848527-chr21:45078395..45081083,3	K562	blood:
12	chr21:45079803..45081678-chr21:45114848..45116362,2	MCF-7	breast:
13	chr17:49197275..49198196-chr21:45079312..45079882,2	Hela-S3	cervix:
14	chr21:45077212..45079990-chr21:45193841..45196934,5	MCF-7	breast:
15	chr21:45079841..45084102-chr21:45134985..45140333,7	K562	blood:
16	chr21:44297552..44300422-chr21:45078415..45081013,3	K562	blood:

Variant related genes	Relation type
HSF2BP	TF binding region
HSF2BP	CpG island
ENSG00000142178	Chromatin interaction
ENSG00000107968	Chromatin interaction
ENSG00000160209	Chromatin interaction
ENSG00000160193	Chromatin interaction
ENSG00000160194	Chromatin interaction
ENSG00000160214	Chromatin interaction
ENSG00000160213	Chromatin interaction
ENSG00000008294	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10427514	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10483077	0.83[AMR][1000 genomes]
rs10483078	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11089090	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs11908919	0.83[AMR][1000 genomes]
rs11909195	0.83[AMR][1000 genomes]
rs11909530	0.83[AMR][1000 genomes]
rs11909813	0.83[AMR][1000 genomes]
rs11911293	0.91[AMR][1000 genomes]
rs11911735	0.83[AMR][1000 genomes]
rs11911856	0.83[AMR][1000 genomes]
rs17004507	0.83[AMR][1000 genomes]
rs17004581	0.83[AMR][1000 genomes]
rs17004585	0.83[AMR][1000 genomes]
rs17004586	0.83[AMR][1000 genomes]
rs17004587	0.83[AMR][1000 genomes]
rs17004589	0.83[AMR][1000 genomes]
rs17004590	0.83[AMR][1000 genomes]
rs17004592	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17004593	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17004594	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17004595	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17004596	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28431406	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28782771	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28852206	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7510543	0.83[AMR][1000 genomes]
rs9917493	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv913873	chr21:44879869-45142427	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv834106	chr21:44992387-45109489	Strong transcription Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	15 gene(s)	inside rSNPs	diseases
3	nsv587700	chr21:45007956-45095200	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv913874	chr21:45041790-45191005	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	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

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45078800-45080400	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr21:45078800-45080400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr21:45078800-45080400	Active TSS	Colon Smooth Muscle	Colon
4	chr21:45078800-45080400	Active TSS	NHEK	skin
5	chr21:45078800-45080600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr21:45079000-45080000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr21:45079000-45080000	Active TSS	Fetal Lung	lung
8	chr21:45079000-45080200	Active TSS	Brain Hippocampus Middle	brain
9	chr21:45079000-45080200	Active TSS	Brain Substantia Nigra	brain
10	chr21:45079000-45080200	Active TSS	Right Ventricle	heart
11	chr21:45079000-45080400	Active TSS	Fetal Kidney	kidney
12	chr21:45079000-45080600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr21:45079000-45080600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr21:45079000-45080600	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr21:45079000-45080600	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr21:45079000-45080600	Active TSS	Ovary	ovary
17	chr21:45079000-45080600	Active TSS	HSMMtube	muscle
18	chr21:45079000-45080800	Active TSS	H9 Cell Line	embryonic stem cell
19	chr21:45079000-45080800	Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr21:45079000-45080800	Flanking Active TSS	Primary B cells from cord blood	blood
21	chr21:45079000-45080800	Active TSS	Psoas Muscle	Psoas
22	chr21:45079000-45081000	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr21:45079000-45081000	Active TSS	Brain Germinal Matrix	brain
24	chr21:45079000-45081200	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr21:45079000-45081200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
26	chr21:45079000-45081400	Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr21:45079200-45080000	Active TSS	Cortex derived primary cultured neurospheres	brain
28	chr21:45079200-45080000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr21:45079200-45080000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
30	chr21:45079200-45080200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr21:45079200-45080200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr21:45079200-45080200	Active TSS	Aorta	Aorta
33	chr21:45079200-45080200	Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr21:45079200-45080200	Active TSS	Fetal Brain Male	brain
35	chr21:45079200-45080200	Active TSS	Fetal Heart	heart
36	chr21:45079200-45080200	Active TSS	Fetal Stomach	stomach
37	chr21:45079200-45080200	Active TSS	Spleen	Spleen
38	chr21:45079200-45080400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr21:45079200-45080400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr21:45079200-45080400	Active TSS	Brain Anterior Caudate	brain
41	chr21:45079200-45080400	Active TSS	Brain Cingulate Gyrus	brain
42	chr21:45079200-45080400	Active TSS	Fetal Brain Female	brain
43	chr21:45079200-45080400	Active TSS	Fetal Intestine Large	intestine
44	chr21:45079200-45080400	Active TSS	Left Ventricle	heart
45	chr21:45079200-45080400	Active TSS	Pancreas	Pancrea
46	chr21:45079200-45080400	Active TSS	Rectal Smooth Muscle	rectum
47	chr21:45079200-45080400	Active TSS	NH-A	brain
48	chr21:45079200-45080600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr21:45079200-45080600	Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr21:45079200-45080600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell

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