Variant report

Variant	rs553172852
Chromosome Location	chr21:45875354-45875355
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	chr21:45875275-45875498	ProgFib	skin:	n/a	n/a
2	SP4	chr21:45874778-45875488	H1-hESC	embryonic stem cell:	n/a	n/a
3	RUNX3	chr21:45875128-45875363	GM12878	blood:	n/a	n/a
4	POLR2A	chr21:45875202-45875881	H1-neurons	neurons:	n/a	n/a
5	REST	chr21:45874838-45876003	H1-neurons	neurons:	n/a	chr21:45875806-45875826
6	ZBTB7A	chr21:45875323-45876135	ECC-1	luminal epithelium:	n/a	chr21:45875934-45875943
7	ZBTB7A	chr21:45875353-45875681	K562	blood:	n/a	n/a
8	SP1	chr21:45874864-45875385	HepG2	liver:	n/a	chr21:45875104-45875114
9	POLR2A	chr21:45875343-45875586	HepG2	liver:	n/a	n/a
10	EGR1	chr21:45875063-45875398	HCT-116	colon:	n/a	chr21:45875286-45875300 chr21:45875106-45875119 chr21:45875240-45875254
11	SP1	chr21:45874851-45875377	A549	lung:	n/a	chr21:45875104-45875114
12	HEY1	chr21:45875208-45875665	HepG2	liver:	n/a	n/a
13	POLR2A	chr21:45874971-45875654	HepG2	liver:	n/a	n/a
14	TAF1	chr21:45875248-45875616	HepG2	liver:	n/a	n/a
15	HEY1	chr21:45875352-45875558	HepG2	liver:	n/a	n/a
16	ELF1	chr21:45875103-45875377	K562	blood:	n/a	n/a
17	EGR1	chr21:45874986-45875405	K562	blood:	n/a	chr21:45875286-45875300 chr21:45875106-45875119 chr21:45875240-45875254
18	POLR2A	chr21:45875312-45875467	HUVEC	blood vessel:	n/a	n/a
19	POLR2A	chr21:45875354-45875512	A549	lung:	n/a	n/a
20	EGR1	chr21:45874794-45875473	MCF-7	breast:	n/a	chr21:45875286-45875300 chr21:45875106-45875119 chr21:45875240-45875254
21	EGR1	chr21:45875021-45875420	K562	blood:	n/a	chr21:45875240-45875254 chr21:45875286-45875300 chr21:45875106-45875119
22	SP1	chr21:45874872-45875368	H1-hESC	embryonic stem cell:	n/a	chr21:45875104-45875114
23	SP4	chr21:45874866-45875360	H1-hESC	embryonic stem cell:	n/a	n/a
24	EGR1	chr21:45875097-45875403	ECC-1	luminal epithelium:	n/a	chr21:45875286-45875300 chr21:45875106-45875119 chr21:45875240-45875254
25	POLR2A	chr21:45875347-45875548	HepG2	liver:	n/a	n/a
26	MAX	chr21:45875346-45876222	HepG2	liver:	n/a	chr21:45875545-45875555 chr21:45875953-45875960 chr21:45875951-45875961 chr21:45875951-45875962 chr21:45875952-45875961 chr21:45875950-45875963 chr21:45875951-45875962 chr21:45876031-45876041 chr21:45875952-45875961 chr21:45875952-45875962 chr21:45875593-45875603
27	CREB1	chr21:45874910-45875482	H1-hESC	embryonic stem cell:	n/a	n/a
28	MXI1	chr21:45874375-45876412	SK-N-SH	brain:	n/a	chr21:45876304-45876319 chr21:45875953-45875962
29	POLR2A	chr21:45875335-45875489	HCT-116	colon:	n/a	n/a
30	TAF1	chr21:45875346-45875589	HepG2	liver:	n/a	n/a
31	POLR2A	chr21:45875108-45875575	HepG2	liver:	n/a	n/a
32	IRF1	chr21:45874921-45875450	K562	blood:	n/a	n/a
33	CHD2	chr21:45874948-45875420	Hela-S3	cervix:	n/a	n/a
34	SP1	chr21:45874767-45875426	H1-hESC	embryonic stem cell:	n/a	chr21:45875104-45875114
35	MXI1	chr21:45874889-45876123	HepG2	liver:	n/a	chr21:45875953-45875962
36	POLR2A	chr21:45875354-45875535	ECC-1	luminal epithelium:	n/a	n/a
37	POLR2A	chr21:45875259-45875612	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:45874301..45877175-chr21:45878479..45881429,3	MCF-7	breast:
2	chr21:45719757..45722045-chr21:45874863..45877372,2	MCF-7	breast:
3	chr21:45756335..45760049-chr21:45874026..45878349,7	MCF-7	breast:

Variant related genes	Relation type
LRRC3	TF binding region
LRRC3-AS1	TF binding region
LRRC3DN	TF binding region
ENSG00000160226	Chromatin interaction
ENSG00000269430	Chromatin interaction
ENSG00000232969	Chromatin interaction
ENSG00000141959	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv913898	chr21:45555079-45941566	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	74 gene(s)	inside rSNPs	diseases
3	esv3361489	chr21:45669073-46013747	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	69 gene(s)	inside rSNPs	diseases
4	nsv913911	chr21:45681153-45893907	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
5	nsv913918	chr21:45697755-45941566	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
6	nsv913922	chr21:45699404-45893907	Genic enhancers Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
7	nsv913930	chr21:45700641-45893907	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
8	nsv913940	chr21:45712588-45893907	Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh 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	55 gene(s)	inside rSNPs	diseases
9	nsv913941	chr21:45722442-45885589	ZNF genes & repeats Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
10	nsv1058359	chr21:45724055-45941566	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
11	nsv1065203	chr21:45731690-45941566	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
12	nsv544473	chr21:45731690-45941566	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
13	nsv913942	chr21:45740823-45941566	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
14	nsv913943	chr21:45740823-46031810	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Weak transcription 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	52 gene(s)	inside rSNPs	diseases
15	nsv1067264	chr21:45757599-45941566	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
16	nsv544474	chr21:45757599-45941566	Bivalent/Poised TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
17	nsv913944	chr21:45757905-45941566	Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
18	nsv1058534	chr21:45812976-45916560	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
19	nsv587801	chr21:45832912-45916560	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
20	nsv913945	chr21:45837433-45893907	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
21	nsv913946	chr21:45838632-46031810	Bivalent Enhancer ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
22	nsv913947	chr21:45852949-45885589	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
23	nsv913948	chr21:45860912-46031810	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
24	nsv834109	chr21:45869352-45916560	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
25	esv3362556	chr21:45874049-45876897	Enhancers Genic enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
26	esv3395562	chr21:45874349-45876522	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45873800-45876800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr21:45874400-45875600	Active TSS	Primary B cells from cord blood	blood
3	chr21:45874400-45875800	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr21:45874400-45875800	Active TSS	Primary T cells from cord blood	blood
5	chr21:45874400-45876600	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr21:45874600-45875400	Enhancers	Primary B cells from peripheral blood	blood
7	chr21:45874600-45875400	Bivalent Enhancer	Fetal Thymus	thymus
8	chr21:45874600-45875800	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr21:45874600-45875800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr21:45874600-45875800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr21:45874600-45875800	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr21:45874600-45875800	Active TSS	Left Ventricle	heart
13	chr21:45874600-45876000	Active TSS	H1 Cell Line	embryonic stem cell
14	chr21:45874600-45876000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr21:45874600-45876000	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr21:45874600-45876000	Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr21:45874600-45876200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr21:45874600-45876200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr21:45874600-45876200	Active TSS	H9 Cell Line	embryonic stem cell
20	chr21:45874600-45876200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
21	chr21:45874600-45876400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr21:45874600-45876600	Active TSS	Rectal Smooth Muscle	rectum
23	chr21:45874800-45875400	Enhancers	Primary hematopoietic stem cells	blood
24	chr21:45874800-45875600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr21:45874800-45875600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr21:45874800-45875600	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr21:45874800-45875800	Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr21:45874800-45875800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr21:45874800-45875800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr21:45874800-45875800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr21:45874800-45875800	Active TSS	Adipose Nuclei	Adipose
32	chr21:45874800-45875800	Active TSS	Right Ventricle	heart
33	chr21:45874800-45875800	Active TSS	Stomach Smooth Muscle	stomach
34	chr21:45874800-45875800	Active TSS	Thymus	Thymus
35	chr21:45874800-45876000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
36	chr21:45874800-45876000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr21:45874800-45876000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr21:45874800-45876000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
39	chr21:45874800-45876000	Active TSS	Duodenum Mucosa	Duodenum
40	chr21:45874800-45876000	Active TSS	Fetal Brain Female	brain
41	chr21:45874800-45876000	Active TSS	Fetal Intestine Small	intestine
42	chr21:45874800-45876000	Active TSS	Right Atrium	heart
43	chr21:45874800-45876000	Active TSS	Sigmoid Colon	Sigmoid Colon
44	chr21:45874800-45876200	Active TSS	Aorta	Aorta
45	chr21:45875000-45875400	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr21:45875000-45875400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr21:45875000-45875400	Weak transcription	Colon Smooth Muscle	Colon
48	chr21:45875000-45875400	Weak transcription	Spleen	Spleen
49	chr21:45875000-45875600	Active TSS	Dnd41	blood
50	chr21:45875000-45875800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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