Variant report

Variant	rs553508715
Chromosome Location	chr2:181845578-181845579
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	EP300	chr2:181845257-181845650	H1-hESC	embryonic stem cell:	n/a	chr2:181845372-181845381
2	CTCF	chr2:181845324-181845643	A549	lung:	n/a	chr2:181845349-181845362 chr2:181845489-181845507 chr2:181845491-181845504
3	HEY1	chr2:181844157-181845616	HepG2	liver:	n/a	chr2:181845368-181845383 chr2:181845366-181845381 chr2:181845501-181845516
4	CTCF	chr2:181845383-181845610	Medullo	brain:	n/a	chr2:181845489-181845507 chr2:181845491-181845504
5	CTCF	chr2:181845390-181845584	LNCaP	prostate:	n/a	chr2:181845489-181845507 chr2:181845491-181845504
6	POLR2A	chr2:181844747-181845661	H1-neurons	neurons:	n/a	n/a
7	POLR2A	chr2:181844773-181845581	GM12878	blood:	n/a	n/a
8	RAD21	chr2:181845282-181845598	SK-N-SH_RA	brain:	n/a	n/a
9	POLR2A	chr2:181844707-181846196	GM18951	blood:	n/a	n/a
10	POLR2A	chr2:181843861-181845587	PBDE	blood:	n/a	n/a
11	CTCF	chr2:181845440-181845590	GM12868	blood:	n/a	chr2:181845489-181845507 chr2:181845491-181845504
12	MAX	chr2:181844636-181845584	NB4	blood:	n/a	n/a
13	CTCF	chr2:181845348-181845614	GM13976	blood:	n/a	chr2:181845349-181845362 chr2:181845489-181845507 chr2:181845491-181845504
14	CTCF	chr2:181845460-181845610	GM12867	blood:	n/a	chr2:181845489-181845507 chr2:181845491-181845504
15	CTCF	chr2:181845460-181845610	HMF	breast:	n/a	chr2:181845489-181845507 chr2:181845491-181845504
16	EGR1	chr2:181844752-181845720	K562	blood:	n/a	chr2:181845412-181845426 chr2:181845064-181845086 chr2:181845600-181845610 chr2:181845459-181845468 chr2:181845372-181845386 chr2:181845458-181845471 chr2:181845458-181845471 chr2:181844871-181844881 chr2:181845651-181845664 chr2:181845453-181845475 chr2:181845069-181845082
17	E2F4	chr2:181844890-181845586	MCF10A-Er-Src	breast:	n/a	chr2:181845218-181845230 chr2:181845068-181845077 chr2:181845371-181845381 chr2:181845219-181845230 chr2:181845374-181845384
18	CTCF	chr2:181845410-181845592	HepG2	liver:	n/a	chr2:181845489-181845507 chr2:181845491-181845504
19	UBTF	chr2:181844601-181846848	K562	blood:	n/a	n/a
20	CTCF	chr2:181845401-181845591	GM20000	blood:	n/a	chr2:181845489-181845507 chr2:181845491-181845504
21	JUND	chr2:181844765-181845687	A549	lung:	n/a	n/a
22	CTCF	chr2:181845440-181845590	AoAF	blood vessel:	n/a	chr2:181845489-181845507 chr2:181845491-181845504
23	CTCF	chr2:181845440-181845590	GM12801	blood:	n/a	chr2:181845489-181845507 chr2:181845491-181845504
24	CTCF	chr2:181845440-181845590	NHDF-neo	bronchial:	n/a	chr2:181845489-181845507 chr2:181845491-181845504
25	CTCF	chr2:181845460-181845610	GM12873	blood:	n/a	chr2:181845489-181845507 chr2:181845491-181845504
26	POLR2A	chr2:181844264-181846086	K562	blood:	n/a	n/a
27	PML	chr2:181844918-181845613	K562	blood:	n/a	chr2:181845078-181845086
28	CTCF	chr2:181845364-181845624	ProgFib	skin:	n/a	chr2:181845489-181845507 chr2:181845491-181845504
29	CTCF	chr2:181845256-181845627	GM19239	blood:	n/a	chr2:181845349-181845362 chr2:181845489-181845507 chr2:181845491-181845504
30	ZNF384	chr2:181845477-181845612	GM12878	blood:	n/a	n/a
31	POLR2A	chr2:181844647-181846214	K562	blood:	n/a	n/a
32	EGR1	chr2:181844791-181845742	HCT-116	colon:	n/a	chr2:181845412-181845426 chr2:181845064-181845086 chr2:181845600-181845610 chr2:181845459-181845468 chr2:181845372-181845386 chr2:181845458-181845471 chr2:181845458-181845471 chr2:181844871-181844881 chr2:181845651-181845664 chr2:181845453-181845475 chr2:181845069-181845082
33	CTCF	chr2:181845440-181845590	HL-60	blood:	n/a	chr2:181845489-181845507 chr2:181845491-181845504
34	MAZ	chr2:181844657-181846479	GM12878	blood:	n/a	chr2:181845600-181845610
35	RAD21	chr2:181844743-181845720	SK-N-SH_RA	brain:	n/a	chr2:181845110-181845123
36	POLR2A	chr2:181844170-181846127	MCF10A-Er-Src	breast:	n/a	n/a
37	CTCF	chr2:181845276-181845660	GM12892	blood:	n/a	chr2:181845349-181845362 chr2:181845489-181845507 chr2:181845491-181845504
38	ZBTB7A	chr2:181845265-181845662	K562	blood:	n/a	n/a
39	CTCF	chr2:181845398-181845603	MCF-7	breast:	n/a	chr2:181845489-181845507 chr2:181845491-181845504
40	POLR2A	chr2:181844225-181846430	K562	blood:	n/a	n/a
41	ZBTB7A	chr2:181845177-181845666	ECC-1	luminal epithelium:	n/a	n/a
42	EGR1	chr2:181845297-181845675	ECC-1	luminal epithelium:	n/a	chr2:181845412-181845426 chr2:181845600-181845610 chr2:181845459-181845468 chr2:181845372-181845386 chr2:181845458-181845471 chr2:181845458-181845471 chr2:181845651-181845664 chr2:181845453-181845475
43	EGR1	chr2:181844877-181845644	H1-hESC	embryonic stem cell:	n/a	chr2:181845412-181845426 chr2:181845064-181845086 chr2:181845600-181845610 chr2:181845459-181845468 chr2:181845372-181845386 chr2:181845458-181845471 chr2:181845458-181845471 chr2:181845453-181845475 chr2:181845069-181845082
44	CTCF	chr2:181845460-181845610	GM12872	blood:	n/a	chr2:181845489-181845507 chr2:181845491-181845504
45	CTCF	chr2:181845440-181845590	HMEC	breast:	n/a	chr2:181845489-181845507 chr2:181845491-181845504
46	CTCF	chr2:181845409-181845598	HUVEC	blood vessel:	n/a	chr2:181845489-181845507 chr2:181845491-181845504
47	RAD21	chr2:181845329-181845659	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr2:181845241-181845652	GM12891	blood:	n/a	chr2:181845349-181845362 chr2:181845489-181845507 chr2:181845491-181845504
49	CTCF	chr2:181845325-181845632	Fibrobl	skin:	n/a	chr2:181845349-181845362 chr2:181845489-181845507 chr2:181845491-181845504
50	CHD2	chr2:181844709-181846453	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:181845181..181847277-chr7:100464247..100466142,2	MCF-7	breast:
2	chr2:181845093..181847328-chr2:182755996..182757943,2	K562	blood:
3	chr2:181829069..181832020-chr2:181844085..181846532,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000236153	TF binding region
UBE2E3	TF binding region
ENSG00000170035	Chromatin interaction
ENSG00000087077	Chromatin interaction
ENSG00000138434	Chromatin interaction
ENSG00000260742	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875476	chr2:181767757-181854997	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a
2	esv3439536	chr2:181844232-181847280	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent Enhancer 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	6 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:181843800-181848600	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr2:181843800-181849200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:181844000-181847400	Active TSS	Stomach Smooth Muscle	stomach
4	chr2:181844200-181847000	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr2:181844400-181846400	Active TSS	Liver	Liver
6	chr2:181844400-181846400	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr2:181844400-181846400	Active TSS	Skeletal Muscle Male	skeletal muscle
8	chr2:181844400-181846600	Active TSS	Rectal Smooth Muscle	rectum
9	chr2:181844400-181846800	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr2:181844400-181847000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:181844400-181847000	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr2:181844400-181847000	Active TSS	Pancreas	Pancrea
13	chr2:181844400-181847000	Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr2:181844400-181847200	Active TSS	Right Atrium	heart
15	chr2:181844400-181847400	Active TSS	Thymus	Thymus
16	chr2:181844400-181847600	Active TSS	Aorta	Aorta
17	chr2:181844400-181847600	Active TSS	Fetal Muscle Trunk	muscle
18	chr2:181844600-181846000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr2:181844600-181846200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
20	chr2:181844600-181846200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
21	chr2:181844600-181846400	Active TSS	Esophagus	oesophagus
22	chr2:181844600-181846400	Active TSS	Gastric	stomach
23	chr2:181844600-181846400	Active TSS	Small Intestine	intestine
24	chr2:181844600-181846600	Active TSS	Brain Anterior Caudate	brain
25	chr2:181844600-181846600	Active TSS	Sigmoid Colon	Sigmoid Colon
26	chr2:181844600-181846800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr2:181844600-181846800	Active TSS	Brain Cingulate Gyrus	brain
28	chr2:181844600-181846800	Active TSS	Left Ventricle	heart
29	chr2:181844600-181846800	Active TSS	Lung	lung
30	chr2:181844600-181847000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr2:181844600-181847000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr2:181844600-181847000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:181844600-181847000	Active TSS	H9 Cell Line	embryonic stem cell
34	chr2:181844600-181847000	Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr2:181844600-181847000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
36	chr2:181844600-181847000	Active TSS	Brain Angular Gyrus	brain
37	chr2:181844600-181847000	Active TSS	Brain Hippocampus Middle	brain
38	chr2:181844600-181847000	Active TSS	Hela-S3	cervix
39	chr2:181844600-181847200	Active TSS	H1 Cell Line	embryonic stem cell
40	chr2:181844600-181847200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr2:181844600-181847200	Active TSS	Psoas Muscle	Psoas
42	chr2:181844600-181847400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr2:181844600-181847400	Active TSS	Fetal Kidney	kidney
44	chr2:181844600-181847400	Active TSS	Right Ventricle	heart
45	chr2:181844600-181847600	Active TSS	Ovary	ovary
46	chr2:181844600-181848000	Active TSS	Brain Germinal Matrix	brain
47	chr2:181844600-181849800	Active TSS	Fetal Brain Female	brain
48	chr2:181844800-181846000	Active TSS	Primary T helper cells fromperipheralblood	blood
49	chr2:181844800-181846000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
50	chr2:181844800-181846000	Weak transcription	Fetal Heart	heart

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