Variant report

Variant	rs148908362
Chromosome Location	chr21:45431661-45431662
allele	C/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	chr21:45431380-45432667	ECC-1	luminal epithelium:	n/a	n/a
2	HEY1	chr21:45431634-45433000	K562	blood:	n/a	chr21:45432188-45432203 chr21:45432060-45432075 chr21:45431648-45431663 chr21:45432229-45432244
3	E2F6	chr21:45431659-45432313	K562	blood:	n/a	chr21:45432226-45432236 chr21:45432063-45432072 chr21:45432076-45432087
4	POLR2A	chr21:45431515-45433061	K562	blood:	n/a	n/a
5	MAX	chr21:45431302-45432663	A549	lung:	n/a	n/a
6	MAX	chr21:45431442-45433094	K562	blood:	n/a	n/a
7	TAF1	chr21:45431555-45432434	ECC-1	luminal epithelium:	n/a	n/a
8	GABPA	chr21:45431358-45432716	MCF-7	breast:	n/a	chr21:45431651-45431660
9	E2F4	chr21:45431498-45433086	K562	blood:	n/a	chr21:45432226-45432236 chr21:45432063-45432072 chr21:45431651-45431660
10	SPI1	chr21:45431555-45432349	HL-60	blood:	n/a	chr21:45431768-45431781 chr21:45432076-45432089
11	ELF1	chr21:45431567-45433124	K562	blood:	n/a	n/a
12	POLR2A	chr21:45431417-45433000	Raji	blood:	n/a	n/a
13	MAX	chr21:45431627-45433045	HepG2	liver:	n/a	n/a
14	POLR2A	chr21:45431645-45432327	HCT-116	colon:	n/a	n/a
15	GABPA	chr21:45431598-45432491	SK-N-SH	brain:	n/a	chr21:45431651-45431660
16	POLR2A	chr21:45431464-45433125	GM12878	blood:	n/a	n/a
17	TEAD4	chr21:45431610-45432177	K562	blood:	n/a	n/a
18	UBTF	chr21:45431476-45433799	K562	blood:	n/a	n/a
19	MTA3	chr21:45431487-45432325	GM12878	blood:	n/a	n/a
20	MAX	chr21:45431417-45433165	HepG2	liver:	n/a	n/a
21	MXI1	chr21:45430881-45434044	SK-N-SH	brain:	n/a	n/a
22	POLR2A	chr21:45430760-45432324	SK-N-SH	brain:	n/a	n/a
23	POLR2A	chr21:45431434-45433083	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr21:45431551-45433185	HL-60	blood:	n/a	n/a
25	TAF1	chr21:45431642-45432401	K562	blood:	n/a	n/a
26	POLR2A	chr21:45431543-45432628	Gliobla	brain:	n/a	n/a
27	POLR2A	chr21:45431661-45432511	H1-neurons	neurons:	n/a	n/a
28	POLR2A	chr21:45431452-45433097	Hela-S3	cervix:	n/a	n/a
29	YY1	chr21:45431434-45433107	K562	blood:	n/a	chr21:45431651-45431660 chr21:45432187-45432196
30	POLR2A	chr21:45430877-45432819	IMR90	lung:	n/a	n/a
31	EP300	chr21:45431620-45432265	ECC-1	luminal epithelium:	n/a	chr21:45432219-45432235 chr21:45431871-45431887 chr21:45432186-45432195 chr21:45432222-45432238 chr21:45432216-45432232 chr21:45432200-45432207 chr21:45432187-45432196 chr21:45432223-45432239 chr21:45431872-45431888
32	CHD2	chr21:45431443-45433081	Hela-S3	cervix:	n/a	chr21:45431649-45431659
33	RUNX3	chr21:45431499-45433039	GM12878	blood:	n/a	n/a
34	HCFC1	chr21:45430618-45433737	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr21:45430478-45432643	K562	blood:	n/a	n/a
36	GABPA	chr21:45431530-45433116	K562	blood:	n/a	chr21:45431651-45431660
37	MAZ	chr21:45430829-45433361	IMR90	lung:	n/a	n/a
38	POLR2A	chr21:45431246-45433532	H1-hESC	embryonic stem cell:	n/a	n/a
39	MYC	chr21:45431617-45432322	K562	blood:	n/a	n/a
40	CHD2	chr21:45431632-45432745	K562	blood:	n/a	chr21:45431649-45431659
41	MAX	chr21:45431424-45432287	K562	blood:	n/a	n/a
42	POLR2A	chr21:45431618-45432443	U87	brain:	n/a	n/a
43	MYC	chr21:45431561-45433464	K562	blood:	n/a	n/a
44	REST	chr21:45431590-45432303	HL-60	blood:	n/a	chr21:45431915-45431928
45	TEAD4	chr21:45431497-45432305	K562	blood:	n/a	n/a
46	ELF1	chr21:45431656-45433043	K562	blood:	n/a	n/a
47	POLR2A	chr21:45430527-45432712	PFSK-1	brain:	n/a	n/a
48	MAX	chr21:45431378-45432311	ECC-1	luminal epithelium:	n/a	n/a
49	E2F6	chr21:45431404-45432289	K562	blood:	n/a	chr21:45432226-45432236 chr21:45432063-45432072 chr21:45431651-45431660 chr21:45432076-45432087
50	MAX	chr21:45431358-45433522	K562	blood:	n/a	n/a

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	chr21:45282965..45285916-chr21:45430237..45433854,8	MCF-7	breast:
14	chr21:45430507..45434109-chr21:45525660..45529122,6	K562	blood:
15	chr21:45207339..45211369-chr21:45429720..45433341,4	K562	blood:
16	chr20:60877447..60878118-chr21:45431566..45432541,2	Hela-S3	cervix:
17	chr21:45194435..45196529-chr21:45430535..45433342,2	MCF-7	breast:
18	chr21:45431322..45434131-chr21:45718820..45721746,2	K562	blood:
19	chr1:23885346..23886319-chr21:45431568..45432074,2	Hela-S3	cervix:
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	chr21:45429712..45433999-chr21:45522896..45529122,10	K562	blood:
25	chr21:45416541..45418869-chr21:45429410..45432028,3	K562	blood:
26	chr21:45283737..45286588-chr21:45430466..45433524,3	K562	blood:
27	chr21:45366033..45367987-chr21:45430998..45433821,2	MCF-7	breast:

Variant related genes	Relation type
TRAPPC10	TF binding region
ENSG00000160213	Chromatin interaction
ENSG00000130706	Chromatin interaction
ENSG00000215458	Chromatin interaction
ENSG00000141959	Chromatin interaction
ENSG00000160218	Chromatin interaction
ENSG00000160209	Chromatin interaction
ENSG00000160214	Chromatin interaction
ENSG00000117318	Chromatin interaction
ENSG00000160216	Chromatin interaction
ENSG00000241945	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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45429800-45433800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr21:45430800-45431800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr21:45431000-45431800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr21:45431000-45431800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr21:45431000-45432000	Flanking Active TSS	Primary hematopoietic stem cells	blood
6	chr21:45431000-45433000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr21:45431000-45433200	Active TSS	Brain Anterior Caudate	brain
8	chr21:45431200-45431800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
9	chr21:45431200-45432000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
10	chr21:45431200-45432400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr21:45431200-45432800	Active TSS	Fetal Muscle Trunk	muscle
12	chr21:45431200-45433000	Active TSS	Brain Germinal Matrix	brain
13	chr21:45431200-45433000	Active TSS	Fetal Lung	lung
14	chr21:45431200-45433000	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr21:45431200-45433000	Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr21:45431200-45433000	Active TSS	NHLF	lung
17	chr21:45431200-45433200	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr21:45431200-45433200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr21:45431200-45433200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr21:45431200-45433200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr21:45431200-45433200	Active TSS	Fetal Kidney	kidney
22	chr21:45431200-45433200	Active TSS	NHEK	skin
23	chr21:45431200-45433400	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr21:45431200-45433400	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr21:45431200-45433400	Active TSS	Rectal Smooth Muscle	rectum
26	chr21:45431200-45433400	Active TSS	A549	lung
27	chr21:45431200-45433600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr21:45431200-45433600	Active TSS	Psoas Muscle	Psoas
29	chr21:45431200-45433800	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr21:45431200-45433800	Active TSS	H9 Cell Line	embryonic stem cell
31	chr21:45431200-45433800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr21:45431200-45434000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr21:45431200-45434200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr21:45431200-45434200	Active TSS	HSMMtube	muscle
35	chr21:45431400-45431800	Flanking Active TSS	Primary B cells from peripheral blood	blood
36	chr21:45431400-45431800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
37	chr21:45431400-45431800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
38	chr21:45431400-45431800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
39	chr21:45431400-45431800	Active TSS	Right Atrium	heart
40	chr21:45431400-45432200	Flanking Active TSS	Primary B cells from cord blood	blood
41	chr21:45431400-45432800	Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr21:45431400-45432800	Active TSS	Adipose Nuclei	Adipose
43	chr21:45431400-45432800	Active TSS	Colonic Mucosa	Colon
44	chr21:45431400-45432800	Active TSS	Fetal Brain Female	brain
45	chr21:45431400-45432800	Active TSS	Right Ventricle	heart
46	chr21:45431400-45433000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr21:45431400-45433000	Active TSS	Muscle Satellite Cultured Cells	--
48	chr21:45431400-45433000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr21:45431400-45433000	Active TSS	Liver	Liver
50	chr21:45431400-45433000	Active TSS	Duodenum Mucosa	Duodenum

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