Variant report

Variant	rs575933140
Chromosome Location	chr21:45875530-45875531
allele	A/G
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	chr21:45875357-45875545	ECC-1	luminal epithelium:	n/a	n/a
2	POLR2A	chr21:45875202-45875881	H1-neurons	neurons:	n/a	n/a
3	REST	chr21:45874838-45876003	H1-neurons	neurons:	n/a	chr21:45875806-45875826
4	ZBTB7A	chr21:45875323-45876135	ECC-1	luminal epithelium:	n/a	chr21:45875934-45875943
5	ZBTB7A	chr21:45875353-45875681	K562	blood:	n/a	n/a
6	POLR2A	chr21:45875343-45875586	HepG2	liver:	n/a	n/a
7	POLR2A	chr21:45875355-45875576	HepG2	liver:	n/a	n/a
8	NANOG	chr21:45875371-45875631	H1-hESC	embryonic stem cell:	n/a	n/a
9	HEY1	chr21:45875208-45875665	HepG2	liver:	n/a	n/a
10	POLR2A	chr21:45874971-45875654	HepG2	liver:	n/a	n/a
11	TAF1	chr21:45875248-45875616	HepG2	liver:	n/a	n/a
12	HEY1	chr21:45875352-45875558	HepG2	liver:	n/a	n/a
13	BACH1	chr21:45875420-45875923	H1-hESC	embryonic stem cell:	n/a	n/a
14	HDAC2	chr21:45875366-45875635	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr21:45875347-45875548	HepG2	liver:	n/a	n/a
16	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
17	ZBTB7A	chr21:45875475-45876117	ECC-1	luminal epithelium:	n/a	chr21:45875934-45875943
18	SMC3	chr21:45875521-45876270	SK-N-SH	brain:	n/a	chr21:45875935-45875945
19	MXI1	chr21:45874375-45876412	SK-N-SH	brain:	n/a	chr21:45876304-45876319 chr21:45875953-45875962
20	TAF1	chr21:45875346-45875589	HepG2	liver:	n/a	n/a
21	POLR2A	chr21:45875108-45875575	HepG2	liver:	n/a	n/a
22	MXI1	chr21:45874889-45876123	HepG2	liver:	n/a	chr21:45875953-45875962
23	POLR2A	chr21:45875354-45875535	ECC-1	luminal epithelium:	n/a	n/a
24	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	chr21:45797330..45797907-chr21:45875395..45876030,3	MCF-7	breast:
4	chr21:45756335..45760049-chr21:45874026..45878349,7	MCF-7	breast:
5	chr21:45783905..45784653-chr21:45875483..45876048,2	MCF-7	breast:
6	chr21:45875495..45879436-chr21:45881615..45885234,3	K562	blood:

Variant related genes	Relation type
LRRC3-AS1	TF binding region
LRRC3DN	TF binding region
ENSG00000141959	Chromatin interaction
ENSG00000269430	Chromatin interaction
ENSG00000232969	Chromatin interaction
ENSG00000160226	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:108 , 50 per page) page: 1 2 3

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	chr21:45874600-45875800	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr21:45874600-45875800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr21:45874600-45875800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr21:45874600-45875800	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr21:45874600-45875800	Active TSS	Left Ventricle	heart
11	chr21:45874600-45876000	Active TSS	H1 Cell Line	embryonic stem cell
12	chr21:45874600-45876000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr21:45874600-45876000	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr21:45874600-45876000	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr21:45874600-45876200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr21:45874600-45876200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr21:45874600-45876200	Active TSS	H9 Cell Line	embryonic stem cell
18	chr21:45874600-45876200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
19	chr21:45874600-45876400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr21:45874600-45876600	Active TSS	Rectal Smooth Muscle	rectum
21	chr21:45874800-45875600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
22	chr21:45874800-45875600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr21:45874800-45875600	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr21:45874800-45875800	Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr21:45874800-45875800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr21:45874800-45875800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr21:45874800-45875800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr21:45874800-45875800	Active TSS	Adipose Nuclei	Adipose
29	chr21:45874800-45875800	Active TSS	Right Ventricle	heart
30	chr21:45874800-45875800	Active TSS	Stomach Smooth Muscle	stomach
31	chr21:45874800-45875800	Active TSS	Thymus	Thymus
32	chr21:45874800-45876000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr21:45874800-45876000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr21:45874800-45876000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr21:45874800-45876000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
36	chr21:45874800-45876000	Active TSS	Duodenum Mucosa	Duodenum
37	chr21:45874800-45876000	Active TSS	Fetal Brain Female	brain
38	chr21:45874800-45876000	Active TSS	Fetal Intestine Small	intestine
39	chr21:45874800-45876000	Active TSS	Right Atrium	heart
40	chr21:45874800-45876000	Active TSS	Sigmoid Colon	Sigmoid Colon
41	chr21:45874800-45876200	Active TSS	Aorta	Aorta
42	chr21:45875000-45875600	Active TSS	Dnd41	blood
43	chr21:45875000-45875800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr21:45875000-45875800	Active TSS	iPS-15b Cell Line	embryonic stem cell
45	chr21:45875000-45875800	Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr21:45875000-45875800	Active TSS	Primary T helper cells fromperipheralblood	blood
47	chr21:45875000-45875800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr21:45875000-45875800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr21:45875000-45875800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr21:45875000-45875800	Active TSS	Monocytes-CD14+_RO01746	blood

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