Variant report

Variant	rs555864086
Chromosome Location	chr21:40176579-40176580
allele	A/C
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	MXI1	chr21:40176328-40180482	SK-N-SH	brain:	n/a	chr21:40176631-40176646 chr21:40176633-40176648
2	POLR2A	chr21:40175826-40184443	MCF10A-Er-Src	breast:	n/a	n/a
3	RAD21	chr21:40176494-40178046	ECC-1	luminal epithelium:	n/a	chr21:40177096-40177109 chr21:40177093-40177112 chr21:40178030-40178044
4	EP300	chr21:40176364-40180305	SK-N-SH	brain:	n/a	chr21:40179345-40179359 chr21:40177988-40177997 chr21:40178219-40178228 chr21:40179343-40179357 chr21:40178259-40178275 chr21:40179344-40179358 chr21:40178028-40178044 chr21:40179342-40179356 chr21:40178328-40178344 chr21:40178322-40178331
5	RAD21	chr21:40176426-40178698	MCF-7	breast:	n/a	chr21:40178543-40178556 chr21:40177096-40177109 chr21:40177093-40177112 chr21:40178101-40178114 chr21:40178124-40178136 chr21:40178030-40178044
6	CTCF	chr21:40176520-40176670	GM12869	blood:	n/a	n/a
7	SMARCC1	chr21:40176513-40177935	Hela-S3	cervix:	n/a	chr21:40176655-40176664
8	FOS	chr21:40176288-40177165	MCF10A-Er-Src	breast:	n/a	chr21:40176540-40176547 chr21:40176651-40176662 chr21:40176536-40176545 chr21:40176654-40176665 chr21:40176655-40176663 chr21:40176309-40176317 chr21:40176535-40176546 chr21:40176653-40176664
9	SMC3	chr21:40175857-40180616	SK-N-SH	brain:	n/a	chr21:40177519-40177533 chr21:40177325-40177332 chr21:40178167-40178177 chr21:40177094-40177108 chr21:40178332-40178342 chr21:40177523-40177533
10	MAZ	chr21:40175795-40179353	IMR90	lung:	n/a	chr21:40176308-40176317 chr21:40176731-40176740 chr21:40177454-40177463 chr21:40176637-40176646 chr21:40176537-40176546 chr21:40178111-40178121 chr21:40177455-40177462 chr21:40177836-40177845 chr21:40177456-40177465
11	POLR2A	chr21:40176494-40176962	HepG2	liver:	n/a	n/a
12	RAD21	chr21:40176569-40179264	IMR90	lung:	n/a	chr21:40178543-40178556 chr21:40177096-40177109 chr21:40177093-40177112 chr21:40178101-40178114 chr21:40178124-40178136 chr21:40178030-40178044
13	CTCF	chr21:40176319-40179110	SK-N-SH	brain:	n/a	chr21:40177982-40177995 chr21:40177095-40177108 chr21:40177092-40177110 chr21:40177520-40177533
14	POLR2A	chr21:40175924-40187316	MCF10A-Er-Src	breast:	n/a	n/a
15	STAT3	chr21:40176556-40177115	MCF10A-Er-Src	breast:	n/a	chr21:40176858-40176869
16	REST	chr21:40176561-40178021	MCF-7	breast:	n/a	chr21:40177910-40177923 chr21:40177970-40177990 chr21:40177144-40177162
17	RAD21	chr21:40176514-40178069	MCF-7	breast:	n/a	chr21:40177096-40177109 chr21:40177093-40177112 chr21:40178030-40178044
18	MAX	chr21:40176549-40178561	MCF-7	breast:	n/a	chr21:40176731-40176740 chr21:40177454-40177463 chr21:40176637-40176646 chr21:40178111-40178121 chr21:40177455-40177462 chr21:40177836-40177845 chr21:40177456-40177465
19	CHD1	chr21:40175807-40184420	IMR90	lung:	n/a	chr21:40183942-40183952
20	HCFC1	chr21:40176304-40178467	Hela-S3	cervix:	n/a	n/a
21	RCOR1	chr21:40176543-40178074	K562	blood:	n/a	n/a
22	MAX	chr21:40176544-40178784	K562	blood:	n/a	chr21:40176731-40176740 chr21:40177454-40177463 chr21:40176637-40176646 chr21:40178111-40178121 chr21:40177455-40177462 chr21:40177836-40177845 chr21:40177456-40177465
23	POLR2A	chr21:40176508-40178021	K562	blood:	n/a	n/a
24	RAD21	chr21:40176371-40180344	SK-N-SH	brain:	n/a	chr21:40178543-40178556 chr21:40177096-40177109 chr21:40177093-40177112 chr21:40178101-40178114 chr21:40178124-40178136 chr21:40178030-40178044
25	CTCF	chr21:40176560-40176710	GM12867	blood:	n/a	n/a
26	ELF1	chr21:40176460-40178747	MCF-7	breast:	n/a	chr21:40178512-40178524 chr21:40178154-40178163 chr21:40178051-40178063
27	POLR2A	chr21:40176463-40183519	Hela-S3	cervix:	n/a	n/a
28	FOS	chr21:40176525-40177190	MCF10A-Er-Src	breast:	n/a	chr21:40176540-40176547 chr21:40176651-40176662 chr21:40176536-40176545 chr21:40176654-40176665 chr21:40176655-40176663 chr21:40176535-40176546 chr21:40176653-40176664
29	SPI1	chr21:40176330-40176647	GM12891	blood:	n/a	chr21:40176492-40176505
30	POLR2A	chr21:40176535-40178772	Hela-S3	cervix:	n/a	n/a
31	CTCF	chr21:40176447-40177392	MCF-7	breast:	n/a	chr21:40177095-40177108 chr21:40177092-40177110
32	JUND	chr21:40176481-40178025	K562	blood:	n/a	chr21:40176540-40176547 chr21:40176651-40176662 chr21:40177562-40177571 chr21:40176536-40176545 chr21:40176654-40176665 chr21:40176655-40176663 chr21:40176535-40176546
33	GABPA	chr21:40176566-40178117	MCF-7	breast:	n/a	chr21:40177452-40177461 chr21:40178026-40178035 chr21:40177988-40177997
34	MAX	chr21:40176449-40178810	MCF-7	breast:	n/a	chr21:40176731-40176740 chr21:40177454-40177463 chr21:40176637-40176646 chr21:40176537-40176546 chr21:40178111-40178121 chr21:40177455-40177462 chr21:40177836-40177845 chr21:40177456-40177465
35	STAT3	chr21:40176576-40177160	MCF10A-Er-Src	breast:	n/a	chr21:40176858-40176869
36	FOS	chr21:40176288-40177028	MCF10A-Er-Src	breast:	n/a	chr21:40176540-40176547 chr21:40176651-40176662 chr21:40176536-40176545 chr21:40176654-40176665 chr21:40176655-40176663 chr21:40176309-40176317 chr21:40176535-40176546 chr21:40176653-40176664
37	CTCF	chr21:40176453-40177496	MCF-7	breast:	n/a	chr21:40177095-40177108 chr21:40177092-40177110
38	CTCF	chr21:40176550-40177272	IMR90	lung:	n/a	chr21:40177095-40177108 chr21:40177092-40177110
39	MXI1	chr21:40176213-40179394	IMR90	lung:	n/a	chr21:40176631-40176646 chr21:40176633-40176648
40	MYC	chr21:40176388-40178004	A549	lung:	n/a	chr21:40176731-40176740 chr21:40177454-40177463 chr21:40176637-40176646 chr21:40176537-40176546 chr21:40177455-40177462 chr21:40177836-40177845 chr21:40177456-40177465
41	POLR2A	chr21:40176087-40184309	IMR90	lung:	n/a	n/a
42	CUX1	chr21:40176440-40176864	K562	blood:	n/a	n/a
43	BACH1	chr21:40176534-40176680	K562	blood:	n/a	chr21:40176534-40176548
44	FOS	chr21:40176149-40177105	HUVEC	blood vessel:	n/a	chr21:40176540-40176547 chr21:40176651-40176662 chr21:40176536-40176545 chr21:40176654-40176665 chr21:40176655-40176663 chr21:40176309-40176317 chr21:40176535-40176546 chr21:40176653-40176664
45	POLR2A	chr21:40175758-40179245	PANC-1	pancreas:	n/a	n/a
46	CTCF	chr21:40176560-40176710	HBMEC	blood vessel:	n/a	n/a
47	HDAC2	chr21:40176485-40178915	MCF-7	breast:	n/a	chr21:40178693-40178707
48	FOS	chr21:40176524-40177143	MCF10A-Er-Src	breast:	n/a	chr21:40176540-40176547 chr21:40176651-40176662 chr21:40176536-40176545 chr21:40176654-40176665 chr21:40176655-40176663 chr21:40176535-40176546 chr21:40176653-40176664
49	CTCF	chr21:40176540-40176690	GM12868	blood:	n/a	n/a
50	CTCF	chr21:40176560-40176710	SAEC	small airway:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:40176403..40178101-chr21:40218059..40219647,2	K562	blood:
2	chr21:40175328..40180167-chr21:40553641..40558387,7	K562	blood:
3	chr21:40105514..40106081-chr21:40176310..40177112,2	MCF-7	breast:
4	chr2:86902482..86903131-chr21:40176151..40176774,2	MCF-7	breast:
5	chr21:40175328..40178574-chr21:40554098..40556223,3	K562	blood:
6	chr21:40176416..40179104-chr21:40257484..40260730,3	MCF-7	breast:
7	chr21:40174647..40179577-chr21:40285247..40287797,5	MCF-7	breast:
8	chr21:40174974..40176584-chr21:40544801..40546577,2	K562	blood:
9	chr21:40176416..40178956-chr21:40498284..40502065,4	MCF-7	breast:
10	chr21:40176263..40179138-chr21:40817088..40818717,2	K562	blood:
11	chr21:40175975..40176770-chr21:40394504..40395431,2	MCF-7	breast:
12	chr21:40154093..40155752-chr21:40174948..40176789,2	MCF-7	breast:

Variant related genes	Relation type
ETS2	TF binding region
ENSG00000157578	Chromatin interaction
ENSG00000229925	Chromatin interaction
ENSG00000234035	Chromatin interaction
ENSG00000229986	Chromatin interaction
ENSG00000272991	Chromatin interaction
ENSG00000183527	Chromatin interaction
ENSG00000228861	Chromatin interaction
ENSG00000185437	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1058591	chr21:40114130-40190594	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv1062425	chr21:40172471-40380976	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv544442	chr21:40172471-40380976	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	esv3430408	chr21:40176482-40179580	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	24 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	chr21:40165000-40176600	Enhancers	Fetal Intestine Large	intestine
2	chr21:40166600-40177000	Weak transcription	Gastric	stomach
3	chr21:40167000-40176600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr21:40169600-40176800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr21:40170400-40176600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr21:40171200-40176600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr21:40172000-40177000	Enhancers	HepG2	liver
8	chr21:40172600-40176800	Enhancers	K562	blood
9	chr21:40172600-40177200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr21:40173000-40176800	Weak transcription	Right Atrium	heart
11	chr21:40173400-40176800	Enhancers	Placenta	Placenta
12	chr21:40173600-40176800	Enhancers	Stomach Mucosa	stomach
13	chr21:40173800-40176600	Weak transcription	HMEC	breast
14	chr21:40174200-40176600	Enhancers	Fetal Lung	lung
15	chr21:40174400-40176600	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr21:40174400-40176800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr21:40175200-40176800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr21:40175400-40176600	Enhancers	NHEK	skin
19	chr21:40175400-40176800	Enhancers	Fetal Muscle Trunk	muscle
20	chr21:40175400-40176800	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr21:40175400-40177000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr21:40175400-40177000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr21:40175400-40177000	Enhancers	Esophagus	oesophagus
24	chr21:40175400-40177200	Enhancers	Lung	lung
25	chr21:40175800-40176800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
26	chr21:40175800-40176800	Enhancers	Fetal Stomach	stomach
27	chr21:40176000-40176600	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr21:40176000-40176600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr21:40176000-40176600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr21:40176000-40176600	Weak transcription	NHLF	lung
31	chr21:40176000-40176800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
32	chr21:40176000-40176800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr21:40176000-40176800	Enhancers	Fetal Muscle Leg	muscle
34	chr21:40176000-40176800	Enhancers	Pancreas	Pancrea
35	chr21:40176000-40176800	Active TSS	Stomach Smooth Muscle	stomach
36	chr21:40176000-40176800	Enhancers	GM12878-XiMat	blood
37	chr21:40176000-40177000	Enhancers	Placenta Amnion	Placenta Amnion
38	chr21:40176000-40177400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
39	chr21:40176000-40177600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr21:40176200-40176600	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr21:40176200-40176600	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr21:40176200-40176600	Enhancers	Primary T cells from cord blood	blood
43	chr21:40176200-40176600	Enhancers	Colonic Mucosa	Colon
44	chr21:40176200-40176600	Enhancers	Dnd41	blood
45	chr21:40176200-40176600	Enhancers	Osteobl	bone
46	chr21:40176200-40176800	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr21:40176200-40176800	Weak transcription	Small Intestine	intestine
48	chr21:40176200-40176800	Enhancers	HUVEC	blood vessel
49	chr21:40176200-40176800	Enhancers	NHDF-Ad	bronchial
50	chr21:40176200-40177400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum

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