Variant report

Variant	rs369268007
Chromosome Location	chr21:45207156-45207157
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:35)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:35 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr21:45206250-45207341	HEK293	kidney:	n/a	n/a
2	TCF3	chr21:45207084-45207234	GM12878	blood:	n/a	n/a
3	MYC	chr21:45206519-45207291	MCF-7	breast:	n/a	n/a
4	STAT5A	chr21:45206917-45207218	GM12878	blood:	n/a	n/a
5	TCF12	chr21:45206228-45207370	HepG2	liver:	n/a	chr21:45206237-45206245
6	TEAD4	chr21:45206735-45207266	K562	blood:	n/a	n/a
7	MAX	chr21:45206209-45207361	HepG2	liver:	n/a	n/a
8	GATA1	chr21:45206358-45207366	K562	blood:	n/a	n/a
9	POLR2A	chr21:45206403-45207306	MCF-7	breast:	n/a	n/a
10	POLR2A	chr21:45206459-45207291	MCF-7	breast:	n/a	n/a
11	BCL3	chr21:45206201-45207351	GM12878	blood:	n/a	n/a
12	CBX3	chr21:45206320-45207372	K562	blood:	n/a	n/a
13	MYC	chr21:45206541-45207302	MCF-7	breast:	n/a	n/a
14	PBX3	chr21:45206900-45207374	GM12878	blood:	n/a	n/a
15	NFATC1	chr21:45206211-45207267	GM12878	blood:	n/a	n/a
16	RCOR1	chr21:45206529-45207324	K562	blood:	n/a	n/a
17	WRNIP1	chr21:45206181-45207422	GM12878	blood:	n/a	n/a
18	POLR2A	chr21:45206591-45207220	K562	blood:	n/a	n/a
19	CBX3	chr21:45206508-45207439	K562	blood:	n/a	n/a
20	KAP1	chr21:45207051-45207192	U2OS	brain:	n/a	n/a
21	NR2C2	chr21:45206279-45207296	GM12878	blood:	n/a	n/a
22	RCOR1	chr21:45206427-45207324	K562	blood:	n/a	n/a
23	ZNF263	chr21:45206218-45207250	HEK293-T-REx	kidney:	n/a	n/a
24	POLR2A	chr21:45206828-45207188	HepG2	liver:	n/a	n/a
25	TCF3	chr21:45206224-45207426	GM12878	blood:	n/a	n/a
26	SUZ12	chr21:45206336-45207303	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr21:45207097-45207263	A549	lung:	n/a	n/a
28	RCOR1	chr21:45206588-45207317	HepG2	liver:	n/a	n/a
29	MYC	chr21:45206955-45207257	MCF-7	breast:	n/a	n/a
30	POU2F2	chr21:45206410-45207449	GM12891	blood:	n/a	n/a
31	POLR2A	chr21:45206282-45207328	A549	lung:	n/a	n/a
32	POLR2A	chr21:45206511-45207158	H1-neurons	neurons:	n/a	n/a
33	ZKSCAN1	chr21:45206117-45207674	Hela-S3	cervix:	n/a	n/a
34	ELF1	chr21:45206670-45207345	GM12878	blood:	n/a	n/a
35	BCL3	chr21:45206784-45207412	GM12878	blood:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45136894..45141532-chr21:45205840..45211872,8	MCF-7	breast:
2	chr21:45130981..45133882-chr21:45206562..45209340,2	K562	blood:
3	chr21:45094660..45096892-chr21:45205328..45207677,2	K562	blood:
4	chr21:45188049..45190841-chr21:45206908..45209310,2	MCF-7	breast:
5	chr21:45205839..45207709-chr21:45212746..45214269,2	MCF-7	breast:
6	chr21:44912384..44914729-chr21:45206399..45208292,2	MCF-7	breast:
7	chr21:45138000..45143848-chr21:45206375..45212489,9	MCF-7	breast:
8	chr21:45205883..45207499-chr21:45284527..45286198,2	K562	blood:
9	chr21:45195028..45197771-chr21:45204736..45207262,2	MCF-7	breast:
10	chr21:45201612..45205256-chr21:45206995..45210818,5	MCF-7	breast:
11	chr21:45138604..45140519-chr21:45206523..45208517,2	K562	blood:
12	chr21:45076259..45080839-chr21:45207005..45211007,4	MCF-7	breast:

No data

Variant related genes	Relation type
RRP1	TF binding region
ENSG00000160207	Chromatin interaction
ENSG00000160213	Chromatin interaction
ENSG00000160216	Chromatin interaction
ENSG00000160209	Chromatin interaction
ENSG00000160214	Chromatin interaction
ENSG00000160208	Chromatin interaction
ENSG00000234030	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531545	chr21:45095397-45395904	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers 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	49 gene(s)	inside rSNPs	diseases
2	nsv913876	chr21:45119629-45267193	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	esv2830066	chr21:45133868-45258047	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv913879	chr21:45145286-45237039	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv913880	chr21:45145286-45263920	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv913881	chr21:45145286-45267193	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv470904	chr21:45151045-45258047	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
8	nsv913882	chr21:45151874-45370715	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
9	nsv834107	chr21:45155325-45294546	Enhancers Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
10	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
11	nsv520305	chr21:45175958-45246326	Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
12	nsv834108	chr21:45178037-45369641	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
13	nsv913883	chr21:45191139-45252838	Weak transcription Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
14	nsv913884	chr21:45191139-45255836	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
15	nsv544469	chr21:45194085-45257959	Active TSS Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
16	esv3347263	chr21:45204424-45209222	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
17	nsv913885	chr21:45206355-45249474	Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
18	esv1945486	chr21:45206934-45207384	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
19	esv3437467	chr21:45206997-45207258	Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
20	esv4213	chr21:45207021-45207320	Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
21	esv3442726	chr21:45207035-45207215	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45196800-45208800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr21:45196800-45209000	Weak transcription	Aorta	Aorta
3	chr21:45199000-45208600	Weak transcription	Stomach Mucosa	stomach
4	chr21:45199000-45208800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr21:45199200-45208400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr21:45199200-45208600	Weak transcription	Primary T cells from cord blood	blood
7	chr21:45199400-45208600	Weak transcription	Primary B cells from cord blood	blood
8	chr21:45202600-45208600	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr21:45203200-45208400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr21:45203200-45208800	Weak transcription	HMEC	breast
11	chr21:45203400-45208400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr21:45203400-45208400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr21:45203400-45208400	Weak transcription	GM12878-XiMat	blood
14	chr21:45203600-45208400	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr21:45203600-45208400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr21:45203600-45208600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr21:45203600-45208600	Weak transcription	A549	lung
18	chr21:45203800-45208600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr21:45203800-45208600	Weak transcription	Primary hematopoietic stem cells	blood
20	chr21:45203800-45208600	Weak transcription	Adipose Nuclei	Adipose
21	chr21:45203800-45208600	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr21:45204600-45208600	Weak transcription	HepG2	liver
23	chr21:45204600-45208600	Weak transcription	NHEK	skin
24	chr21:45204600-45209000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr21:45204800-45208400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr21:45204800-45208600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr21:45205000-45208400	Weak transcription	Dnd41	blood
28	chr21:45206400-45207200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr21:45206400-45207200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr21:45206400-45207400	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr21:45206400-45207400	ZNF genes & repeats	Esophagus	oesophagus
32	chr21:45206400-45207400	Enhancers	Gastric	stomach
33	chr21:45206400-45207400	ZNF genes & repeats	Hela-S3	cervix
34	chr21:45206600-45207200	Enhancers	Lung	lung
35	chr21:45206600-45207200	Strong transcription	Spleen	Spleen
36	chr21:45206600-45207400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr21:45206800-45207200	Active TSS	Colonic Mucosa	Colon
38	chr21:45206800-45208400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr21:45207000-45207200	Transcr. at gene 5' and 3'	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr21:45207000-45207200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr21:45207000-45207400	Enhancers	Pancreas	Pancrea
42	chr21:45207000-45208800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr21:45207000-45208800	Weak transcription	Skeletal Muscle Male	skeletal muscle

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