Variant report

Variant	rs2329372
Chromosome Location	chr21:44781222-44781223
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:38)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:38 , 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	chr21:44781038-44781279	IMR90	lung:	n/a	n/a
4	UBTF	chr21:44781099-44781368	K562	blood:	n/a	n/a
5	CTCF	chr21:44781100-44781250	AG04449	skin:	n/a	n/a
6	CTCF	chr21:44781080-44781230	HEEpiC	esophagus:	n/a	n/a
7	MAX	chr21:44781084-44781284	GM12878	blood:	n/a	n/a
8	POLR2A	chr21:44781198-44781313	ProgFib	skin:	n/a	n/a
9	POLR2A	chr21:44780763-44782665	GM19193	blood:	n/a	n/a
10	POLR2A	chr21:44780975-44782044	GM12892	blood:	n/a	n/a
11	MAX	chr21:44780887-44781389	MCF-7	breast:	n/a	n/a
12	RAD21	chr21:44781042-44782697	IMR90	lung:	n/a	n/a
13	MAX	chr21:44780986-44781242	K562	blood:	n/a	n/a
14	CTCF	chr21:44781080-44781230	WERI-Rb-1	eye:	n/a	n/a
15	CTCF	chr21:44781080-44781230	HBMEC	blood vessel:	n/a	n/a
16	CTCF	chr21:44781100-44781250	HCPEpiC	choroid plexus:	n/a	n/a
17	CTCF	chr21:44781100-44781250	GM06990	blood:	n/a	n/a
18	GATA2	chr21:44781064-44781560	SH-SY5Y	brain:	n/a	n/a
19	POLR2A	chr21:44780909-44782682	GM12892	blood:	n/a	n/a
20	POLR2A	chr21:44779653-44782706	IMR90	lung:	n/a	n/a
21	POLR2A	chr21:44781087-44782675	GM19099	blood:	n/a	n/a
22	POLR2A	chr21:44781113-44781927	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr21:44780985-44782654	GM18951	blood:	n/a	n/a
24	MAZ	chr21:44780514-44782772	IMR90	lung:	n/a	n/a
25	MAX	chr21:44780949-44781369	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr21:44781080-44781230	MCF-7	breast:	n/a	n/a
27	CTCF	chr21:44781080-44781230	BJ	skin:	n/a	n/a
28	POLR2A	chr21:44780840-44782546	Raji	blood:	n/a	n/a
29	POLR2A	chr21:44780908-44782650	GM12892	blood:	n/a	n/a
30	GATA3	chr21:44781202-44781566	SH-SY5Y	brain:	n/a	n/a
31	POLR2A	chr21:44781055-44782614	GM15510	blood:	n/a	n/a
32	CTCF	chr21:44781140-44781290	HFF-Myc	foreskin:	n/a	n/a
33	PAX5	chr21:44781051-44781306	GM12892	blood:	n/a	n/a
34	POLR2A	chr21:44780913-44782666	GM18505	blood:	n/a	n/a
35	POLR2A	chr21:44781156-44782631	GM18526	blood:	n/a	n/a
36	CTCF	chr21:44781080-44781230	NHDF-neo	bronchial:	n/a	n/a
37	BHLHE40	chr21:44781083-44781283	K562	blood:	n/a	n/a
38	POLR2A	chr21:44781080-44781303	GM12878	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:44779798..44782094-chr21:44814719..44816894,2	MCF-7	breast:
2	chr21:44779843..44781749-chr21:44914569..44917163,2	MCF-7	breast:
3	chr21:44781136..44783679-chr21:44846485..44848438,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000225637	TF binding region
ENSG00000142178	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17004533	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3746945	0.84[EUR][1000 genomes]
rs56914063	0.89[EUR][1000 genomes]
rs935798	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs935799	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs935800	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44774800-44782000	Weak transcription	Brain Anterior Caudate	brain
2	chr21:44777200-44782000	Enhancers	Brain Germinal Matrix	brain
3	chr21:44777400-44788600	Enhancers	Fetal Brain Male	brain
4	chr21:44778800-44781400	Enhancers	Fetal Thymus	thymus
5	chr21:44779000-44781600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr21:44779400-44781400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr21:44779400-44782200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr21:44780000-44783600	Enhancers	Primary B cells from cord blood	blood
9	chr21:44780200-44781800	Enhancers	Left Ventricle	heart
10	chr21:44780200-44782000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
11	chr21:44780200-44782600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr21:44780200-44788400	Enhancers	Spleen	Spleen
13	chr21:44780400-44781600	Enhancers	Lung	lung
14	chr21:44780400-44781600	Enhancers	Placenta Amnion	Placenta Amnion
15	chr21:44780400-44782000	Enhancers	Esophagus	oesophagus
16	chr21:44780600-44781400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr21:44780600-44781600	Enhancers	Placenta	Placenta
18	chr21:44780600-44782000	Enhancers	Fetal Lung	lung
19	chr21:44780600-44782800	Enhancers	Fetal Heart	heart
20	chr21:44780800-44781400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr21:44780800-44781400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr21:44780800-44781400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr21:44780800-44781400	Enhancers	Psoas Muscle	Psoas
24	chr21:44780800-44781400	Enhancers	Right Ventricle	heart
25	chr21:44780800-44781400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
26	chr21:44780800-44781400	Enhancers	Thymus	Thymus
27	chr21:44780800-44781400	Enhancers	HSMMtube	muscle
28	chr21:44780800-44781600	Enhancers	Primary T cells fromperipheralblood	blood
29	chr21:44780800-44781600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr21:44780800-44781600	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr21:44780800-44781800	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr21:44780800-44781800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr21:44780800-44781800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr21:44780800-44781800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr21:44780800-44781800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
36	chr21:44780800-44781800	Enhancers	HSMM	muscle
37	chr21:44780800-44782000	Enhancers	Duodenum Mucosa	Duodenum
38	chr21:44780800-44782200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr21:44780800-44782200	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr21:44780800-44782400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr21:44780800-44782600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr21:44780800-44783000	Bivalent Enhancer	Fetal Stomach	stomach
43	chr21:44780800-44783200	Flanking Active TSS	Dnd41	blood
44	chr21:44780800-44784800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr21:44781000-44781400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr21:44781000-44781400	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr21:44781000-44781600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr21:44781000-44781600	Bivalent Enhancer	Stomach Mucosa	stomach
49	chr21:44781000-44781600	Bivalent Enhancer	HepG2	liver
50	chr21:44781000-44781800	Enhancers	Primary T cells from cord blood	blood

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