Variant report

Variant	rs73338822
Chromosome Location	chr21:16436257-16436258
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	chr21:16436157-16438395	HUVEC	blood vessel:	n/a	n/a
2	REST	chr21:16435354-16438905	H1-neurons	neurons:	n/a	chr21:16438223-16438243 chr21:16436686-16436699 chr21:16437368-16437381 chr21:16437338-16437351 chr21:16437700-16437720 chr21:16438053-16438066 chr21:16436674-16436687 chr21:16437707-16437720 chr21:16436992-16437005 chr21:16438061-16438081 chr21:16437144-16437157 chr21:16436670-16436690 chr21:16438061-16438081 chr21:16438056-16438069 chr21:16438063-16438073 chr21:16437711-16437720 chr21:16437704-16437717
3	TBL1XR1	chr21:16435903-16436412	K562	blood:	n/a	n/a
4	POLR2A	chr21:16435980-16436658	HepG2	liver:	n/a	n/a
5	POLR2A	chr21:16436203-16436308	HepG2	liver:	n/a	n/a
6	MXI1	chr21:16436042-16436703	Hela-S3	cervix:	n/a	n/a
7	RAD21	chr21:16435484-16438771	IMR90	lung:	n/a	chr21:16437126-16437140
8	TBP	chr21:16435915-16436393	K562	blood:	n/a	n/a
9	POLR2A	chr21:16435361-16436805	HepG2	liver:	n/a	n/a
10	MYC	chr21:16436162-16436421	MCF10A-Er-Src	breast:	n/a	n/a
11	CEBPB	chr21:16436203-16436594	Hela-S3	cervix:	n/a	n/a
12	TAF1	chr21:16436257-16436565	A549	lung:	n/a	n/a
13	POLR2A	chr21:16436206-16438543	IMR90	lung:	n/a	n/a
14	POLR2A	chr21:16436153-16438478	K562	blood:	n/a	n/a
15	POLR2A	chr21:16435389-16438447	MCF10A-Er-Src	breast:	n/a	n/a
16	UBTF	chr21:16435349-16438535	K562	blood:	n/a	n/a
17	POLR2A	chr21:16436137-16438396	HepG2	liver:	n/a	n/a
18	RFX5	chr21:16435779-16436403	Hela-S3	cervix:	n/a	n/a
19	BHLHE40	chr21:16436173-16436357	K562	blood:	n/a	n/a
20	RAD21	chr21:16435540-16436281	HepG2	liver:	n/a	n/a
21	POLR2A	chr21:16433055-16438919	MCF-7	breast:	n/a	n/a
22	SIN3AK20	chr21:16435785-16436737	PFSK-1	brain:	n/a	n/a
23	STAT1	chr21:16436242-16436334	GM12878	blood:	n/a	n/a
24	SIN3A	chr21:16436123-16438496	H1-hESC	embryonic stem cell:	n/a	chr21:16438062-16438076 chr21:16437707-16437720 chr21:16438058-16438069 chr21:16437713-16437721 chr21:16438223-16438236 chr21:16437356-16437367 chr21:16436537-16436548 chr21:16438281-16438292 chr21:16438056-16438069
25	POLR2A	chr21:16436152-16436727	H1-neurons	neurons:	n/a	n/a
26	POLR2A	chr21:16436208-16436736	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr21:16436219-16438403	Hela-S3	cervix:	n/a	n/a
28	MAZ	chr21:16436157-16438628	IMR90	lung:	n/a	chr21:16437418-16437427 chr21:16437464-16437474 chr21:16438272-16438282
29	POLR2A	chr21:16436044-16436355	H1-neurons	neurons:	n/a	n/a
30	POLR2A	chr21:16436193-16438728	GM12878	blood:	n/a	n/a
31	MYC	chr21:16435511-16436412	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr21:16436236-16438568	ProgFib	skin:	n/a	n/a
33	JUND	chr21:16436161-16436373	K562	blood:	n/a	chr21:16436220-16436231
34	RAD21	chr21:16435513-16436489	Hela-S3	cervix:	n/a	n/a
35	MAX	chr21:16435811-16436800	Hela-S3	cervix:	n/a	n/a
36	MXI1	chr21:16436121-16436391	GM12878	blood:	n/a	n/a
37	HEY1	chr21:16436118-16436332	HepG2	liver:	n/a	n/a
38	POLR2A	chr21:16435375-16438493	Hela-S3	cervix:	n/a	n/a
39	TBP	chr21:16435801-16436464	Hela-S3	cervix:	n/a	n/a
40	TAF1	chr21:16436053-16436369	Hela-S3	cervix:	n/a	n/a
41	RCOR1	chr21:16436134-16436539	K562	blood:	n/a	n/a
42	POLR2A	chr21:16436133-16437079	H1-hESC	embryonic stem cell:	n/a	n/a
43	MXI1	chr21:16436206-16438431	HepG2	liver:	n/a	n/a
44	POLR2A	chr21:16435512-16437667	MCF10A-Er-Src	breast:	n/a	n/a
45	MXI1	chr21:16436131-16438560	IMR90	lung:	n/a	n/a
46	SIN3AK20	chr21:16435124-16436828	MCF-7	breast:	n/a	n/a
47	MAZ	chr21:16435902-16438535	K562	blood:	n/a	chr21:16437418-16437427 chr21:16437464-16437474 chr21:16438272-16438282
48	RCOR1	chr21:16435674-16436676	Hela-S3	cervix:	n/a	n/a
49	TAL1	chr21:16436203-16436392	K562	blood:	n/a	n/a
50	ZNF263	chr21:16435014-16436704	HEK293-T-REx	kidney:	n/a	chr21:16435484-16435505

No.	Distal block	Cell Line	Cell type
1	chr21:15754870..15757296-chr21:16435942..16438083,2	K562	blood:
2	chr21:16434967..16437063-chr21:16711446..16713527,2	MCF-7	breast:
3	chr21:16356082..16358745-chr21:16434038..16436986,2	MCF-7	breast:
4	chr21:16331957..16335486-chr21:16435819..16438054,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000236471	TF binding region
ENSG00000155304	Chromatin interaction
ENSG00000229047	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs28695679	1.00[AMR][1000 genomes]
rs28705212	1.00[AMR][1000 genomes]
rs58449654	1.00[AMR][1000 genomes]
rs61017534	1.00[AMR][1000 genomes]
rs73338820	1.00[AMR][1000 genomes]
rs9981346	1.00[AMR][1000 genomes]
rs9983107	1.00[AMR][1000 genomes]
rs9983502	1.00[AMR][1000 genomes]
rs9984529	1.00[AMR][1000 genomes]
rs9985093	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834048	chr21:16324481-16489570	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv587050	chr21:16413682-16462268	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1059303	chr21:16423727-16466112	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv544379	chr21:16423727-16466112	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	esv3409239	chr21:16435706-16438254	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
6	esv3428786	chr21:16436131-16439129	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	14 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	chr21:16429000-16439200	Active TSS	A549	lung
2	chr21:16432800-16439000	Active TSS	GM12878-XiMat	blood
3	chr21:16433000-16439200	Active TSS	Right Atrium	heart
4	chr21:16433400-16439000	Active TSS	Psoas Muscle	Psoas
5	chr21:16433800-16439000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr21:16433800-16439000	Active TSS	HSMM	muscle
7	chr21:16434200-16438600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr21:16434200-16439000	Active TSS	Rectal Smooth Muscle	rectum
9	chr21:16434400-16436800	Flanking Active TSS	Primary B cells from cord blood	blood
10	chr21:16434400-16439000	Active TSS	Colonic Mucosa	Colon
11	chr21:16434400-16439000	Active TSS	Right Ventricle	heart
12	chr21:16434600-16436400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr21:16434600-16438800	Active TSS	Fetal Thymus	thymus
14	chr21:16434600-16438800	Active TSS	Thymus	Thymus
15	chr21:16434600-16439000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr21:16434600-16439000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr21:16434600-16439000	Active TSS	Fetal Intestine Large	intestine
18	chr21:16434800-16436400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr21:16434800-16438600	Active TSS	K562	blood
20	chr21:16434800-16438800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr21:16434800-16439000	Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr21:16434800-16439000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr21:16434800-16439000	Active TSS	Fetal Intestine Small	intestine
24	chr21:16434800-16439200	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr21:16434800-16439200	Active TSS	HMEC	breast
26	chr21:16434800-16439400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr21:16435000-16437400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr21:16435000-16438800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr21:16435000-16438800	Active TSS	Placenta	Placenta
30	chr21:16435000-16439000	Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr21:16435000-16439000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr21:16435000-16439000	Active TSS	Fetal Kidney	kidney
33	chr21:16435000-16439000	Active TSS	Fetal Stomach	stomach
34	chr21:16435000-16439000	Active TSS	Ovary	ovary
35	chr21:16435000-16439000	Active TSS	HSMMtube	muscle
36	chr21:16435000-16439200	Active TSS	Stomach Smooth Muscle	stomach
37	chr21:16435000-16439200	Active TSS	NHDF-Ad	bronchial
38	chr21:16435200-16436400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
39	chr21:16435200-16436400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
40	chr21:16435200-16436400	Flanking Active TSS	Fetal Lung	lung
41	chr21:16435200-16436600	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr21:16435200-16438400	Active TSS	NH-A	brain
43	chr21:16435200-16438600	Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr21:16435200-16438800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
45	chr21:16435200-16438800	Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr21:16435200-16438800	Active TSS	Muscle Satellite Cultured Cells	--
47	chr21:16435200-16438800	Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr21:16435200-16439000	Active TSS	Fetal Muscle Trunk	muscle
49	chr21:16435200-16439000	Active TSS	Osteobl	bone
50	chr21:16435200-16439200	Active TSS	Breast Myoepithelial Primary Cells	Breast

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