Variant report

Variant	rs17004533
Chromosome Location	chr21:44781021-44781022
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:30)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:30 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr21:44780907-44781295	K562	blood:	n/a	n/a
2	E2F6	chr21:44780824-44781309	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr21:44781020-44781170	GM12865	blood:	n/a	n/a
4	POLR2A	chr21:44780763-44782665	GM19193	blood:	n/a	n/a
5	POLR2A	chr21:44780975-44782044	GM12892	blood:	n/a	n/a
6	CTCF	chr21:44781020-44781170	HBMEC	blood vessel:	n/a	n/a
7	MAX	chr21:44780887-44781389	MCF-7	breast:	n/a	n/a
8	MAX	chr21:44780986-44781242	K562	blood:	n/a	n/a
9	CTCF	chr21:44780920-44781070	HVMF	connective:	n/a	n/a
10	CTCF	chr21:44781020-44781170	GM06990	blood:	n/a	n/a
11	E2F6	chr21:44781017-44781192	K562	blood:	n/a	n/a
12	CTCF	chr21:44781020-44781170	HA-sp	spinal cord:	n/a	n/a
13	CTCF	chr21:44781020-44781170	HRE	kidney:	n/a	n/a
14	POLR2A	chr21:44780909-44782682	GM12892	blood:	n/a	n/a
15	POLR2A	chr21:44779653-44782706	IMR90	lung:	n/a	n/a
16	CTCF	chr21:44781000-44781150	GM12872	blood:	n/a	n/a
17	CTCF	chr21:44780980-44781130	HPF	lung:	n/a	n/a
18	MAX	chr21:44780976-44781209	K562	blood:	n/a	n/a
19	CTCF	chr21:44781020-44781170	AG10803	skin:	n/a	n/a
20	POLR2A	chr21:44780985-44782654	GM18951	blood:	n/a	n/a
21	CTCF	chr21:44781020-44781170	NHEK	skin:	n/a	n/a
22	MAZ	chr21:44780514-44782772	IMR90	lung:	n/a	n/a
23	MAX	chr21:44780949-44781369	H1-hESC	embryonic stem cell:	n/a	n/a
24	MAX	chr21:44780903-44781214	ECC-1	luminal epithelium:	n/a	n/a
25	POLR2A	chr21:44780840-44782546	Raji	blood:	n/a	n/a
26	CTCF	chr21:44781020-44781170	HCFaa	heart:	n/a	n/a
27	POLR2A	chr21:44780908-44782650	GM12892	blood:	n/a	n/a
28	POLR2A	chr21:44780913-44782666	GM18505	blood:	n/a	n/a
29	CTCF	chr21:44780980-44781130	NHDF-neo	bronchial:	n/a	n/a
30	CTCF	chr21:44780980-44781130	AG04450	lung:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:44779798..44782094-chr21:44814719..44816894,2	MCF-7	breast:
2	chr21:44779843..44781749-chr21:44914569..44917163,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000225637	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs2329372	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2838288	1.00[ASN][1000 genomes]
rs2838289	1.00[ASN][1000 genomes]
rs2838290	1.00[ASN][1000 genomes]
rs2838291	1.00[ASN][1000 genomes]
rs3746945	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56914063	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60618935	1.00[ASN][1000 genomes]
rs61520171	1.00[ASN][1000 genomes]
rs7279586	1.00[ASN][1000 genomes]
rs7282956	1.00[ASN][1000 genomes]
rs73378287	1.00[ASN][1000 genomes]
rs73909444	1.00[ASN][1000 genomes]
rs935798	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs935799	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs935800	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1056684	chr21:44539714-44886119	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv913831	chr21:44563995-44931821	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
3	esv1817359	chr21:44699077-44821595	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1057726	chr21:44711850-44957303	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
5	nsv544466	chr21:44711850-44957303	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
6	nsv1058308	chr21:44722915-44825108	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv1063186	chr21:44729904-44828476	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv544467	chr21:44729904-44828476	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	nsv913837	chr21:44731138-44853859	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
10	nsv913838	chr21:44740134-44931821	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
11	nsv913839	chr21:44750200-44931821	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
12	nsv913840	chr21:44750643-44823479	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
13	nsv913841	chr21:44761874-44853859	Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
14	nsv913842	chr21:44764895-44792929	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
15	nsv913843	chr21:44774757-44810756	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
16	nsv913844	chr21:44779680-44875495	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44754800-44781200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr21:44772400-44781200	Enhancers	Fetal Muscle Leg	muscle
3	chr21:44774800-44782000	Weak transcription	Brain Anterior Caudate	brain
4	chr21:44777200-44782000	Enhancers	Brain Germinal Matrix	brain
5	chr21:44777400-44788600	Enhancers	Fetal Brain Male	brain
6	chr21:44778200-44781200	Enhancers	Primary B cells from peripheral blood	blood
7	chr21:44778800-44781400	Enhancers	Fetal Thymus	thymus
8	chr21:44779000-44781600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr21:44779400-44781400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr21:44779400-44782200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr21:44779600-44781200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr21:44779600-44781200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr21:44779800-44781200	Weak transcription	Brain Hippocampus Middle	brain
14	chr21:44780000-44783600	Enhancers	Primary B cells from cord blood	blood
15	chr21:44780200-44781800	Enhancers	Left Ventricle	heart
16	chr21:44780200-44782000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
17	chr21:44780200-44782600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr21:44780200-44788400	Enhancers	Spleen	Spleen
19	chr21:44780400-44781200	Enhancers	HMEC	breast
20	chr21:44780400-44781600	Enhancers	Lung	lung
21	chr21:44780400-44781600	Enhancers	Placenta Amnion	Placenta Amnion
22	chr21:44780400-44782000	Enhancers	Esophagus	oesophagus
23	chr21:44780600-44781200	Enhancers	Right Atrium	heart
24	chr21:44780600-44781400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr21:44780600-44781600	Enhancers	Placenta	Placenta
26	chr21:44780600-44782000	Enhancers	Fetal Lung	lung
27	chr21:44780600-44782800	Enhancers	Fetal Heart	heart
28	chr21:44780800-44781200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr21:44780800-44781200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr21:44780800-44781200	Bivalent Enhancer	Adipose Nuclei	Adipose
31	chr21:44780800-44781200	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
32	chr21:44780800-44781200	Enhancers	Rectal Smooth Muscle	rectum
33	chr21:44780800-44781200	Enhancers	NHDF-Ad	bronchial
34	chr21:44780800-44781200	Enhancers	NHEK	skin
35	chr21:44780800-44781200	Enhancers	NHLF	lung
36	chr21:44780800-44781400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr21:44780800-44781400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr21:44780800-44781400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr21:44780800-44781400	Enhancers	Psoas Muscle	Psoas
40	chr21:44780800-44781400	Enhancers	Right Ventricle	heart
41	chr21:44780800-44781400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
42	chr21:44780800-44781400	Enhancers	Thymus	Thymus
43	chr21:44780800-44781400	Enhancers	HSMMtube	muscle
44	chr21:44780800-44781600	Enhancers	Primary T cells fromperipheralblood	blood
45	chr21:44780800-44781600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr21:44780800-44781600	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr21:44780800-44781800	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr21:44780800-44781800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr21:44780800-44781800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr21:44780800-44781800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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