Variant report

Variant	rs557448402
Chromosome Location	chr21:40685027-40685028
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	chr21:40684951-40686864	ProgFib	skin:	n/a	n/a
2	POLR2A	chr21:40684903-40686876	K562	blood:	n/a	n/a
3	UBTF	chr21:40684951-40686805	K562	blood:	n/a	n/a
4	POLR2A	chr21:40684683-40685238	GM12878	blood:	n/a	n/a
5	ELF1	chr21:40685027-40685287	K562	blood:	n/a	chr21:40685108-40685117
6	E2F4	chr21:40685026-40686759	K562	blood:	n/a	chr21:40685109-40685119 chr21:40685427-40685439 chr21:40685548-40685557 chr21:40685141-40685151 chr21:40685550-40685560 chr21:40685111-40685120
7	POLR2A	chr21:40684866-40685246	GM12878	blood:	n/a	n/a
8	CCNT2	chr21:40684902-40686697	K562	blood:	n/a	chr21:40685051-40685060 chr21:40685265-40685274 chr21:40685765-40685774
9	TAF1	chr21:40684900-40685184	HepG2	liver:	n/a	n/a
10	SIN3AK20	chr21:40684015-40687111	MCF-7	breast:	n/a	n/a
11	POLR2A	chr21:40684347-40686942	K562	blood:	n/a	n/a
12	POLR2A	chr21:40684890-40687595	K562	blood:	n/a	n/a
13	HEY1	chr21:40684916-40686853	K562	blood:	n/a	chr21:40685861-40685876 chr21:40685748-40685763 chr21:40685144-40685159 chr21:40685469-40685484
14	POLR2A	chr21:40684964-40686717	GM18526	blood:	n/a	n/a
15	REST	chr21:40683818-40686869	H1-neurons	neurons:	n/a	chr21:40685323-40685336
16	TEAD4	chr21:40684911-40686578	SK-N-SH	brain:	n/a	n/a
17	POLR2A	chr21:40684380-40686835	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr21:40684324-40686793	GM12892	blood:	n/a	n/a
19	MXI1	chr21:40684995-40685031	HepG2	liver:	n/a	n/a
20	POLR2A	chr21:40684267-40686937	GM18505	blood:	n/a	n/a
21	POLR2A	chr21:40684307-40685065	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr21:40684398-40686753	HUVEC	blood vessel:	n/a	n/a
23	SIN3AK20	chr21:40684890-40686089	K562	blood:	n/a	n/a
24	ELF1	chr21:40684921-40686424	GM12878	blood:	n/a	chr21:40685830-40685839 chr21:40685876-40685885 chr21:40685108-40685117
25	SMARCB1	chr21:40684922-40686833	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr21:40684302-40686849	GM19193	blood:	n/a	n/a
27	HEY1	chr21:40684923-40687089	K562	blood:	n/a	chr21:40685861-40685876 chr21:40685748-40685763 chr21:40685144-40685159 chr21:40685469-40685484
28	ETS1	chr21:40684900-40686308	K562	blood:	n/a	chr21:40685109-40685120 chr21:40685763-40685774
29	MAZ	chr21:40683896-40686930	IMR90	lung:	n/a	chr21:40685337-40685347 chr21:40685086-40685096
30	MAZ	chr21:40684143-40686463	GM12878	blood:	n/a	chr21:40685337-40685347 chr21:40685086-40685096
31	HMGN3	chr21:40684933-40686713	K562	blood:	n/a	n/a
32	POLR2A	chr21:40684930-40686760	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr21:40684194-40685212	H1-neurons	neurons:	n/a	n/a
34	POLR2A	chr21:40684906-40685155	HUVEC	blood vessel:	n/a	n/a
35	ZBTB7A	chr21:40684912-40685290	ECC-1	luminal epithelium:	n/a	n/a
36	TAF1	chr21:40684910-40686419	K562	blood:	n/a	n/a
37	POLR2A	chr21:40684888-40687511	HepG2	liver:	n/a	n/a
38	POLR2A	chr21:40684876-40685118	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr21:40684871-40685259	A549	lung:	n/a	n/a
40	ELF1	chr21:40684908-40686371	K562	blood:	n/a	chr21:40685830-40685839 chr21:40685876-40685885 chr21:40685108-40685117
41	POLR2A	chr21:40684874-40685064	A549	lung:	n/a	n/a
42	POLR2A	chr21:40684897-40686826	K562	blood:	n/a	n/a
43	POLR2A	chr21:40684732-40686784	MCF-7	breast:	n/a	n/a
44	POLR2A	chr21:40685015-40685100	GM12878	blood:	n/a	n/a
45	MAZ	chr21:40684045-40686817	K562	blood:	n/a	chr21:40685337-40685347 chr21:40685086-40685096
46	POLR2A	chr21:40684909-40685072	HepG2	liver:	n/a	n/a
47	POLR2A	chr21:40684136-40686739	H1-neurons	neurons:	n/a	n/a
48	POLR2A	chr21:40684689-40685068	A549	lung:	n/a	n/a
49	POLR2A	chr21:40684344-40686904	HEK293	kidney:	n/a	n/a
50	POLR2A	chr21:40684317-40686823	GM18951	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:40683319..40690926-chr21:40755872..40762716,23	MCF-7	breast:
2	chr1:149858125..149858824-chr21:40685009..40685850,2	Hela-S3	cervix:
3	chr21:40554013..40557423-chr21:40684520..40688084,3	MCF-7	breast:
4	chr21:37527438..37529025-chr21:40684261..40686264,2	MCF-7	breast:
5	chr21:40684209..40686276-chr21:40817224..40819799,4	MCF-7	breast:
6	chr21:40682124..40685118-chr21:40763752..40765296,2	K562	blood:
7	chr21:40681596..40696529-chr21:40715399..40724266,46	K562	blood:
8	chr21:40683717..40685708-chr21:40747929..40750593,3	MCF-7	breast:
9	chr21:40683837..40687545-chr21:40816624..40819639,6	K562	blood:
10	chr21:40681416..40687854-chr21:40744378..40751195,8	K562	blood:
11	chr1:204379398..204382038-chr21:40683560..40686325,2	MCF-7	breast:
12	chr21:40554270..40557456-chr21:40682408..40685088,3	K562	blood:
13	chr21:40683876..40687631-chr21:40749667..40753921,6	K562	blood:
14	chr20:50349937..50351852-chr21:40684525..40686487,2	MCF-7	breast:
15	chr21:40683271..40692626-chr21:40743960..40754349,22	MCF-7	breast:
16	chr21:40684445..40685036-chr3:160283085..160283851,2	Hela-S3	cervix:
17	chr21:40684466..40689800-chr21:40758261..40763098,10	K562	blood:
18	chr21:40683731..40685549-chr21:40816150..40817682,2	MCF-7	breast:
19	chr21:40684648..40686149-chr3:63849352..63850917,2	MCF-7	breast:
20	chr21:40683646..40687466-chr21:40813293..40816602,5	MCF-7	breast:
21	chr21:40555032..40557155-chr21:40684133..40685858,2	MCF-7	breast:
22	chr21:40550424..40553042-chr21:40683249..40686279,3	K562	blood:
23	chr21:40682856..40693378-chr21:40754350..40765471,56	MCF-7	breast:
24	chr21:40683489..40689074-chr21:40750757..40754639,9	MCF-7	breast:
25	chr21:40684332..40690368-chr21:40756970..40764337,16	K562	blood:
26	chr21:40684444..40687629-chr3:63848425..63851169,6	MCF-7	breast:
27	chr21:40684138..40686385-chr9:131445458..131447217,2	MCF-7	breast:
28	chr21:40684582..40688018-chr21:40762846..40766549,4	MCF-7	breast:
29	chr21:40684107..40685647-chr21:40816624..40819498,2	K562	blood:
30	chr21:40553454..40557456-chr21:40682892..40687176,12	K562	blood:

Variant related genes	Relation type
BRWD1-AS1	TF binding region
ENSG00000236830	Chromatin interaction
ENSG00000182093	Chromatin interaction
ENSG00000157578	Chromatin interaction
ENSG00000185437	Chromatin interaction
ENSG00000252915	Chromatin interaction
ENSG00000119335	Chromatin interaction
ENSG00000158615	Chromatin interaction
ENSG00000205581	Chromatin interaction
ENSG00000238556	Chromatin interaction
ENSG00000163634	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000229320	Chromatin interaction
ENSG00000183527	Chromatin interaction
ENSG00000227406	Chromatin interaction
ENSG00000186432	Chromatin interaction
ENSG00000163635	Chromatin interaction
ENSG00000272991	Chromatin interaction
ENSG00000215444	Chromatin interaction
ENSG00000184678	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	nsv459259	chr21:40571246-40701169	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv587480	chr21:40571246-40701169	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	esv3429298	chr21:40670131-40688774	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv913744	chr21:40670167-40757973	Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
5	esv3439649	chr21:40683507-40687455	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
6	nsv1059420	chr21:40684295-40745952	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
7	nsv587482	chr21:40684427-40706594	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40683600-40686600	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr21:40683800-40685400	Active TSS	Right Atrium	heart
3	chr21:40683800-40686400	Active TSS	Thymus	Thymus
4	chr21:40684000-40685800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr21:40684000-40686200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
6	chr21:40684000-40686200	Active TSS	Fetal Thymus	thymus
7	chr21:40684000-40686400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr21:40684000-40686400	Active TSS	Right Ventricle	heart
9	chr21:40684000-40686600	Active TSS	H1 Cell Line	embryonic stem cell
10	chr21:40684000-40686600	Active TSS	Aorta	Aorta
11	chr21:40684000-40686600	Active TSS	Sigmoid Colon	Sigmoid Colon
12	chr21:40684200-40685600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
13	chr21:40684200-40686000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr21:40684200-40686000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr21:40684200-40686000	Active TSS	Placenta Amnion	Placenta Amnion
16	chr21:40684200-40686000	Active TSS	HepG2	liver
17	chr21:40684200-40686200	Active TSS	Cortex derived primary cultured neurospheres	brain
18	chr21:40684200-40686200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr21:40684200-40686200	Active TSS	Brain Anterior Caudate	brain
20	chr21:40684200-40686200	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr21:40684200-40686400	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr21:40684200-40686400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr21:40684200-40686400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
24	chr21:40684200-40686400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr21:40684200-40686400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr21:40684200-40686400	Active TSS	Brain Cingulate Gyrus	brain
27	chr21:40684200-40686400	Active TSS	Fetal Brain Female	brain
28	chr21:40684200-40686400	Active TSS	Pancreas	Pancrea
29	chr21:40684200-40686400	Active TSS	Rectal Mucosa Donor 31	rectum
30	chr21:40684200-40686400	Active TSS	GM12878-XiMat	blood
31	chr21:40684200-40686600	Active TSS	H9 Cell Line	embryonic stem cell
32	chr21:40684200-40686600	Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr21:40684200-40686600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr21:40684200-40686600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr21:40684200-40686600	Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr21:40684200-40686600	Active TSS	Fetal Intestine Large	intestine
37	chr21:40684200-40686600	Active TSS	Fetal Intestine Small	intestine
38	chr21:40684200-40686600	Active TSS	Fetal Stomach	stomach
39	chr21:40684200-40686600	Active TSS	Left Ventricle	heart
40	chr21:40684200-40686600	Active TSS	Ovary	ovary
41	chr21:40684200-40686600	Active TSS	Psoas Muscle	Psoas
42	chr21:40684200-40686600	Active TSS	Stomach Smooth Muscle	stomach
43	chr21:40684200-40686600	Active TSS	HSMM	muscle
44	chr21:40684200-40686800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
45	chr21:40684200-40686800	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr21:40684400-40685200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
47	chr21:40684400-40685600	Weak transcription	Stomach Mucosa	stomach
48	chr21:40684400-40686000	Active TSS	Primary hematopoietic stem cells	blood
49	chr21:40684400-40686000	Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr21:40684400-40686000	Active TSS	HMEC	breast

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