Variant report

Variant	rs113692677
Chromosome Location	chr21:45431463-45431464
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:55)
CpG islands
(count:0)
Chromatin interactive
region (count:28)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:55 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr21:45431380-45432667	ECC-1	luminal epithelium:	n/a	n/a
2	MAX	chr21:45431302-45432663	A549	lung:	n/a	n/a
3	MAX	chr21:45431442-45433094	K562	blood:	n/a	n/a
4	GABPA	chr21:45431358-45432716	MCF-7	breast:	n/a	chr21:45431651-45431660
5	POLR2A	chr21:45431417-45433000	Raji	blood:	n/a	n/a
6	MAX	chr21:45431417-45433165	HepG2	liver:	n/a	n/a
7	MXI1	chr21:45430881-45434044	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr21:45430760-45432324	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr21:45431434-45433083	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr21:45431452-45433097	Hela-S3	cervix:	n/a	n/a
11	YY1	chr21:45431434-45433107	K562	blood:	n/a	chr21:45431651-45431660 chr21:45432187-45432196
12	POLR2A	chr21:45430877-45432819	IMR90	lung:	n/a	n/a
13	CHD2	chr21:45431443-45433081	Hela-S3	cervix:	n/a	chr21:45431649-45431659
14	HCFC1	chr21:45430618-45433737	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr21:45430478-45432643	K562	blood:	n/a	n/a
16	MAZ	chr21:45430829-45433361	IMR90	lung:	n/a	n/a
17	POLR2A	chr21:45431246-45433532	H1-hESC	embryonic stem cell:	n/a	n/a
18	MAX	chr21:45431424-45432287	K562	blood:	n/a	n/a
19	POLR2A	chr21:45430527-45432712	PFSK-1	brain:	n/a	n/a
20	MAX	chr21:45431378-45432311	ECC-1	luminal epithelium:	n/a	n/a
21	E2F6	chr21:45431404-45432289	K562	blood:	n/a	chr21:45432226-45432236 chr21:45432063-45432072 chr21:45431651-45431660 chr21:45432076-45432087
22	MAX	chr21:45431358-45433522	K562	blood:	n/a	n/a
23	TAF1	chr21:45431440-45431678	SK-N-SH	brain:	n/a	n/a
24	POLR2A	chr21:45431455-45433087	K562	blood:	n/a	n/a
25	GABPA	chr21:45431373-45433192	MCF-7	breast:	n/a	chr21:45431651-45431660
26	POLR2A	chr21:45431055-45432839	PFSK-1	brain:	n/a	n/a
27	POLR2A	chr21:45431224-45433182	K562	blood:	n/a	n/a
28	MXI1	chr21:45431325-45433527	IMR90	lung:	n/a	n/a
29	MAX	chr21:45431384-45432468	SK-N-SH	brain:	n/a	n/a
30	CREB1	chr21:45431334-45433156	K562	blood:	n/a	n/a
31	POLR2A	chr21:45431059-45433184	K562	blood:	n/a	n/a
32	POLR2A	chr21:45431332-45433150	HUVEC	blood vessel:	n/a	n/a
33	POLR2A	chr21:45430355-45433156	K562	blood:	n/a	n/a
34	POLR2A	chr21:45431425-45432656	HepG2	liver:	n/a	n/a
35	ZNF384	chr21:45431398-45432160	K562	blood:	n/a	n/a
36	POLR2A	chr21:45430972-45432693	K562	blood:	n/a	n/a
37	ZBTB7A	chr21:45431433-45432237	ECC-1	luminal epithelium:	n/a	n/a
38	TAF1	chr21:45431433-45433180	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr21:45431392-45432572	MCF-7	breast:	n/a	n/a
40	POLR2A	chr21:45430687-45433012	MCF10A-Er-Src	breast:	n/a	n/a
41	ZBTB7A	chr21:45431356-45431595	K562	blood:	n/a	n/a
42	POLR2A	chr21:45431445-45432766	MCF-7	breast:	n/a	n/a
43	NR2F2	chr21:45431463-45433130	HepG2	liver:	n/a	chr21:45432612-45432627 chr21:45432635-45432650
44	SIN3AK20	chr21:45431400-45432989	MCF-7	breast:	n/a	n/a
45	MAX	chr21:45431421-45432341	MCF-7	breast:	n/a	n/a
46	POLR2A	chr21:45431430-45432641	HUVEC	blood vessel:	n/a	n/a
47	POLR2A	chr21:45430299-45433083	K562	blood:	n/a	n/a
48	POLR2A	chr21:45429844-45432314	SK-N-MC	brain:	n/a	n/a
49	POLR2A	chr21:45429882-45433617	K562	blood:	n/a	n/a
50	POLR2A	chr21:45431447-45432682	Hela-S3	cervix:	n/a	n/a

No data

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45216557..45218790-chr21:45430964..45433314,2	K562	blood:
2	chr21:45282600..45286741-chr21:45429139..45433009,5	MCF-7	breast:
3	chr21:45407342..45409027-chr21:45430207..45431871,2	MCF-7	breast:
4	chr21:45430220..45433985-chr21:45525454..45528690,3	MCF-7	breast:
5	chr21:45328589..45330821-chr21:45430342..45432197,2	K562	blood:
6	chr21:45207900..45209521-chr21:45431429..45433903,2	MCF-7	breast:
7	chr21:45430262..45433765-chr21:45524105..45528370,12	MCF-7	breast:
8	chr21:45138839..45140766-chr21:45430959..45433329,2	MCF-7	breast:
9	chr21:45187143..45189107-chr21:45429990..45432008,2	K562	blood:
10	chr21:45367943..45370581-chr21:45429600..45432583,3	K562	blood:
11	chr21:45416695..45418869-chr21:45430273..45432028,2	K562	blood:
12	chr21:45429269..45431828-chr21:45486431..45488648,2	MCF-7	breast:
13	chr21:45340959..45342900-chr21:45429415..45431633,2	K562	blood:
14	chr21:45282965..45285916-chr21:45430237..45433854,8	MCF-7	breast:
15	chr21:45430507..45434109-chr21:45525660..45529122,6	K562	blood:
16	chr21:45411686..45414596-chr21:45429639..45431651,4	K562	blood:
17	chr21:45207339..45211369-chr21:45429720..45433341,4	K562	blood:
18	chr21:45194435..45196529-chr21:45430535..45433342,2	MCF-7	breast:
19	chr21:45431322..45434131-chr21:45718820..45721746,2	K562	blood:
20	chr21:45378072..45381016-chr21:45430291..45432652,2	K562	blood:
21	chr21:45390463..45393290-chr21:45430971..45433661,3	MCF-7	breast:
22	chr21:45229749..45232080-chr21:45430603..45432486,2	K562	blood:
23	chr21:45429046..45431899-chr21:45510493..45513576,3	K562	blood:
24	chr21:45399246..45402021-chr21:45429324..45431485,3	MCF-7	breast:
25	chr21:45429712..45433999-chr21:45522896..45529122,10	K562	blood:
26	chr21:45416541..45418869-chr21:45429410..45432028,3	K562	blood:
27	chr21:45283737..45286588-chr21:45430466..45433524,3	K562	blood:
28	chr21:45366033..45367987-chr21:45430998..45433821,2	MCF-7	breast:

No data

Variant related genes	Relation type
TRAPPC10	TF binding region
ENSG00000141959	Chromatin interaction
ENSG00000160213	Chromatin interaction
ENSG00000241945	Chromatin interaction
ENSG00000160216	Chromatin interaction
ENSG00000160214	Chromatin interaction
ENSG00000160218	Chromatin interaction
ENSG00000160209	Chromatin interaction
ENSG00000215458	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv913887	chr21:45344799-45670770	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv1063752	chr21:45406095-45460342	Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv459293	chr21:45415913-45555079	Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv587721	chr21:45415913-45555079	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	esv3360464	chr21:45431274-45433672	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
7	esv3323312	chr21:45431349-45433897	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45426400-45431600	Weak transcription	Lung	lung
2	chr21:45429800-45433800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr21:45430800-45431600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr21:45430800-45431800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr21:45431000-45431600	Enhancers	Primary T cells from cord blood	blood
6	chr21:45431000-45431600	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr21:45431000-45431600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
8	chr21:45431000-45431600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr21:45431000-45431600	Enhancers	Stomach Mucosa	stomach
10	chr21:45431000-45431600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr21:45431000-45431800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr21:45431000-45431800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr21:45431000-45432000	Flanking Active TSS	Primary hematopoietic stem cells	blood
14	chr21:45431000-45433000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr21:45431000-45433200	Active TSS	Brain Anterior Caudate	brain
16	chr21:45431200-45431600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr21:45431200-45431600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
18	chr21:45431200-45431600	Flanking Active TSS	Fetal Muscle Leg	muscle
19	chr21:45431200-45431600	Flanking Active TSS	Stomach Smooth Muscle	stomach
20	chr21:45431200-45431800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
21	chr21:45431200-45432000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
22	chr21:45431200-45432400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr21:45431200-45432800	Active TSS	Fetal Muscle Trunk	muscle
24	chr21:45431200-45433000	Active TSS	Brain Germinal Matrix	brain
25	chr21:45431200-45433000	Active TSS	Fetal Lung	lung
26	chr21:45431200-45433000	Active TSS	Rectal Mucosa Donor 29	rectum
27	chr21:45431200-45433000	Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr21:45431200-45433000	Active TSS	NHLF	lung
29	chr21:45431200-45433200	Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr21:45431200-45433200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr21:45431200-45433200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr21:45431200-45433200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr21:45431200-45433200	Active TSS	Fetal Kidney	kidney
34	chr21:45431200-45433200	Active TSS	NHEK	skin
35	chr21:45431200-45433400	Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr21:45431200-45433400	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr21:45431200-45433400	Active TSS	Rectal Smooth Muscle	rectum
38	chr21:45431200-45433400	Active TSS	A549	lung
39	chr21:45431200-45433600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr21:45431200-45433600	Active TSS	Psoas Muscle	Psoas
41	chr21:45431200-45433800	Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr21:45431200-45433800	Active TSS	H9 Cell Line	embryonic stem cell
43	chr21:45431200-45433800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr21:45431200-45434000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
45	chr21:45431200-45434200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr21:45431200-45434200	Active TSS	HSMMtube	muscle
47	chr21:45431400-45431600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
48	chr21:45431400-45431600	Active TSS	Primary neutrophils fromperipheralblood	blood
49	chr21:45431400-45431600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
50	chr21:45431400-45431600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood

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