Variant report

Variant	rs76749315
Chromosome Location	chr21:45149229-45149230
allele	G/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	CTCF	chr21:45149180-45149330	HepG2	liver:	n/a	n/a
2	ZNF263	chr21:45147349-45149233	HEK293-T-REx	kidney:	n/a	chr21:45148434-45148443 chr21:45148431-45148440 chr21:45148544-45148553
3	MXI1	chr21:45147556-45149627	SK-N-SH	brain:	n/a	n/a
4	CTCF	chr21:45149100-45149250	HFF	foreskin:	n/a	n/a
5	CTCF	chr21:45149140-45149290	AG09309	skin:	n/a	n/a
6	MAX	chr21:45147321-45149596	HepG2	liver:	n/a	chr21:45148531-45148540 chr21:45148566-45148581 chr21:45148190-45148199 chr21:45148571-45148578 chr21:45148568-45148583 chr21:45148570-45148579 chr21:45148570-45148580 chr21:45149136-45149146 chr21:45148533-45148542 chr21:45148532-45148539 chr21:45148531-45148541
7	CTCF	chr21:45149180-45149330	AG09319	gingival:	n/a	n/a
8	CCNT2	chr21:45147842-45149247	K562	blood:	n/a	chr21:45147962-45147971
9	POLR2A	chr21:45148141-45149230	GM12878	blood:	n/a	n/a
10	HMGN3	chr21:45149076-45149267	K562	blood:	n/a	n/a
11	POLR2A	chr21:45148203-45149303	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr21:45148934-45149548	HepG2	liver:	n/a	n/a
13	CTCF	chr21:45149120-45149270	HRE	kidney:	n/a	n/a
14	POLR2A	chr21:45147127-45149440	K562	blood:	n/a	n/a
15	ZBTB7A	chr21:45148215-45149337	K562	blood:	n/a	n/a
16	POLR2A	chr21:45146597-45149266	A549	lung:	n/a	n/a
17	BHLHE40	chr21:45149150-45149334	K562	blood:	n/a	n/a
18	POLR2A	chr21:45146212-45150537	HepG2	liver:	n/a	n/a
19	MXI1	chr21:45147601-45149800	IMR90	lung:	n/a	n/a
20	POLR2A	chr21:45148279-45149295	HEK293	kidney:	n/a	n/a
21	TAF1	chr21:45148183-45149273	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr21:45148187-45149343	K562	blood:	n/a	n/a
23	JUN	chr21:45147969-45149578	K562	blood:	n/a	chr21:45148409-45148419 chr21:45148408-45148420 chr21:45148409-45148419 chr21:45148409-45148419 chr21:45148953-45148962 chr21:45148410-45148418 chr21:45148409-45148419
24	POLR2A	chr21:45146387-45149715	GM12878	blood:	n/a	n/a
25	POLR2A	chr21:45149008-45149270	A549	lung:	n/a	n/a
26	POLR2A	chr21:45147368-45149350	PBDE	blood:	n/a	n/a
27	ELF1	chr21:45148209-45149525	GM12878	blood:	n/a	chr21:45148981-45148993
28	POLR2A	chr21:45147382-45149254	HepG2	liver:	n/a	n/a
29	MTA3	chr21:45148123-45149396	GM12878	blood:	n/a	n/a
30	TBP	chr21:45148280-45149231	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr21:45148290-45149263	H1-neurons	neurons:	n/a	n/a
32	POLR2A	chr21:45147378-45150044	IMR90	lung:	n/a	n/a
33	POLR2A	chr21:45147382-45149739	GM12892	blood:	n/a	n/a
34	HEY1	chr21:45147989-45149279	HepG2	liver:	n/a	n/a
35	POLR2A	chr21:45148944-45149633	A549	lung:	n/a	n/a
36	POLR2A	chr21:45147818-45149409	K562	blood:	n/a	n/a
37	POLR2A	chr21:45149127-45149631	ECC-1	luminal epithelium:	n/a	n/a
38	POLR2A	chr21:45146519-45149833	K562	blood:	n/a	n/a
39	MAX	chr21:45147446-45149605	HepG2	liver:	n/a	chr21:45148531-45148540 chr21:45148566-45148581 chr21:45148190-45148199 chr21:45148571-45148578 chr21:45148568-45148583 chr21:45148570-45148579 chr21:45148570-45148580 chr21:45149136-45149146 chr21:45148533-45148542 chr21:45148532-45148539 chr21:45148531-45148541
40	CTCF	chr21:45148416-45149258	K562	blood:	n/a	n/a
41	CTCF	chr21:45149120-45149270	WERI-Rb-1	eye:	n/a	n/a
42	MAX	chr21:45147798-45149277	K562	blood:	n/a	chr21:45148531-45148540 chr21:45148566-45148581 chr21:45148190-45148199 chr21:45148571-45148578 chr21:45148568-45148583 chr21:45148570-45148579 chr21:45148570-45148580 chr21:45149136-45149146 chr21:45148533-45148542 chr21:45148532-45148539 chr21:45148531-45148541
43	GABPA	chr21:45148145-45149277	K562	blood:	n/a	chr21:45148529-45148538
44	ETS1	chr21:45148971-45149262	K562	blood:	n/a	n/a
45	CTCF	chr21:45149100-45149250	NHDF-neo	bronchial:	n/a	n/a
46	POLR2A	chr21:45146516-45149611	HL-60	blood:	n/a	n/a
47	POLR2A	chr21:45147250-45149497	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr21:45148169-45149268	GM12892	blood:	n/a	n/a
49	RAD21	chr21:45148185-45149277	IMR90	lung:	n/a	chr21:45148970-45148980 chr21:45148319-45148329
50	NRF1	chr21:45147965-45149326	SK-N-SH	brain:	n/a	chr21:45148628-45148639 chr21:45148529-45148538

No.	Distal block	Cell Line	Cell type
1	chr21:45147195..45149472-chr21:45196303..45198972,2	K562	blood:
2	chr21:45147353..45150091-chr21:45163613..45167274,4	K562	blood:
3	chr21:44297829..44300678-chr21:45147311..45150231,2	K562	blood:
4	chr21:45148918..45151033-chr21:45195012..45197870,3	MCF-7	breast:
5	chr21:45146930..45150669-chr21:45163613..45169103,5	K562	blood:

Variant related genes	Relation type
PDXK	TF binding region
ENSG00000160193	Chromatin interaction
ENSG00000160209	Chromatin interaction
ENSG00000160213	Chromatin interaction
ENSG00000160194	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv913874	chr21:45041790-45191005	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv531544	chr21:45071371-45202912	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	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
4	esv3424986	chr21:45118675-45158421	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	esv3329872	chr21:45118725-45158757	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv913875	chr21:45119629-45191005	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	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
8	nsv587701	chr21:45128190-45181446	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	nsv459290	chr21:45128454-45191139	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription 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	30 gene(s)	inside rSNPs	diseases
10	nsv587702	chr21:45128454-45191139	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
11	nsv913877	chr21:45133868-45163689	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
12	nsv913878	chr21:45133868-45170285	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
13	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
14	esv1828675	chr21:45142427-45191139	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
15	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
16	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
17	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
18	nsv1055154	chr21:45148076-45203162	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic 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	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45145200-45149400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr21:45145200-45149600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr21:45146000-45163600	Weak transcription	Dnd41	blood
4	chr21:45146600-45149400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr21:45146600-45149400	Enhancers	Small Intestine	intestine
6	chr21:45146600-45149600	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr21:45146600-45149600	Enhancers	Gastric	stomach
8	chr21:45146800-45149400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr21:45146800-45149600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr21:45147400-45149600	Flanking Active TSS	Duodenum Mucosa	Duodenum
11	chr21:45147400-45149600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr21:45147400-45149600	Flanking Active TSS	Stomach Smooth Muscle	stomach
13	chr21:45147800-45149400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr21:45147800-45149400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
15	chr21:45147800-45149600	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
16	chr21:45148000-45149400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr21:45148000-45149400	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr21:45148000-45149600	Active TSS	H9 Cell Line	embryonic stem cell
19	chr21:45148000-45149600	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr21:45148000-45149600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
21	chr21:45148000-45149600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr21:45148000-45149600	Flanking Active TSS	Fetal Muscle Leg	muscle
23	chr21:45148000-45149600	Flanking Active TSS	Placenta	Placenta
24	chr21:45148000-45149600	Flanking Active TSS	HMEC	breast
25	chr21:45148000-45149800	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr21:45148200-45149400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr21:45148200-45149400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr21:45148200-45149400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr21:45148200-45149400	Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr21:45148200-45149400	Flanking Active TSS	Primary hematopoietic stem cells	blood
31	chr21:45148200-45149400	Flanking Active TSS	Liver	Liver
32	chr21:45148200-45149600	Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr21:45148200-45149600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr21:45148200-45149600	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr21:45148200-45149800	Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chr21:45148200-45149800	Active TSS	Fetal Kidney	kidney
37	chr21:45148400-45149400	Active TSS	Left Ventricle	heart
38	chr21:45148400-45149400	Active TSS	HepG2	liver
39	chr21:45148400-45149600	Active TSS	Rectal Smooth Muscle	rectum
40	chr21:45148400-45149800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr21:45148400-45149800	Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr21:45148600-45149400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr21:45148600-45149400	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr21:45148800-45149400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr21:45148800-45149400	Flanking Active TSS	HSMM	muscle
46	chr21:45148800-45149600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr21:45148800-45149600	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr21:45148800-45149600	Active TSS	Colonic Mucosa	Colon
49	chr21:45148800-45149600	Enhancers	Esophagus	oesophagus
50	chr21:45148800-45149600	Flanking Active TSS	Placenta Amnion	Placenta Amnion

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