Variant report

Variant	rs377598838
Chromosome Location	chr2:181844283-181844284
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	HEY1	chr2:181844157-181845616	HepG2	liver:	n/a	chr2:181845368-181845383 chr2:181845366-181845381 chr2:181845501-181845516
2	ELK1	chr2:181844053-181844510	K562	blood:	n/a	n/a
3	POLR2A	chr2:181843861-181845587	PBDE	blood:	n/a	n/a
4	POLR2A	chr2:181844264-181846086	K562	blood:	n/a	n/a
5	POLR2A	chr2:181844170-181846127	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr2:181844225-181846430	K562	blood:	n/a	n/a
7	POLR2A	chr2:181844265-181845573	K562	blood:	n/a	n/a
8	POLR2A	chr2:181843951-181845618	K562	blood:	n/a	n/a
9	MYBL2	chr2:181843971-181844587	HepG2	liver:	n/a	n/a
10	POLR2A	chr2:181844243-181844509	SK-N-SH	brain:	n/a	n/a
11	CBX3	chr2:181844245-181845648	K562	blood:	n/a	n/a
12	ZMIZ1	chr2:181844172-181845575	K562	blood:	n/a	n/a
13	EP300	chr2:181844056-181844608	HepG2	liver:	n/a	n/a
14	FOXA1	chr2:181844126-181844549	HepG2	liver:	n/a	n/a
15	POLR2A	chr2:181844188-181844523	HUVEC	blood vessel:	n/a	n/a
16	TBP	chr2:181844268-181846707	K562	blood:	n/a	n/a
17	POLR2A	chr2:181844211-181846233	K562	blood:	n/a	n/a
18	JUND	chr2:181844104-181844542	H1-hESC	embryonic stem cell:	n/a	n/a
19	CHD2	chr2:181844206-181844396	K562	blood:	n/a	n/a
20	FOS	chr2:181844172-181844405	MCF10A-Er-Src	breast:	n/a	n/a
21	CTCF	chr2:181844058-181845743	A549	lung:	n/a	chr2:181845349-181845362 chr2:181845489-181845507 chr2:181845491-181845504 chr2:181845109-181845122
22	CTCF	chr2:181844260-181844410	HepG2	liver:	n/a	n/a
23	RCOR1	chr2:181843843-181846916	K562	blood:	n/a	n/a
24	ELF1	chr2:181844116-181844454	HepG2	liver:	n/a	n/a
25	MAX	chr2:181844139-181846402	HepG2	liver:	n/a	chr2:181845600-181845610
26	TBL1XR1	chr2:181843920-181845602	K562	blood:	n/a	n/a
27	MBD4	chr2:181844191-181844754	HepG2	liver:	n/a	n/a
28	JUND	chr2:181843918-181845647	K562	blood:	n/a	n/a
29	MAX	chr2:181844056-181845703	HepG2	liver:	n/a	chr2:181845600-181845610
30	MYBL2	chr2:181844154-181845587	HepG2	liver:	n/a	n/a
31	POLR2A	chr2:181844087-181845607	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr2:181844158-181845698	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr2:181843714-181845615	K562	blood:	n/a	n/a
34	TBP	chr2:181844280-181845528	HepG2	liver:	n/a	n/a
35	MYC	chr2:181844101-181844328	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr2:181844176-181846544	IMR90	lung:	n/a	n/a
37	POLR2A	chr2:181844256-181845573	HepG2	liver:	n/a	n/a
38	POLR2A	chr2:181844159-181845628	HepG2	liver:	n/a	n/a
39	POLR2A	chr2:181844189-181844365	ProgFib	skin:	n/a	n/a
40	TEAD4	chr2:181843828-181844457	HepG2	liver:	n/a	n/a
41	POLR2A	chr2:181844193-181844402	Gliobla	brain:	n/a	n/a
42	RAD21	chr2:181843929-181845763	SK-N-SH	brain:	n/a	chr2:181845110-181845123
43	MYC	chr2:181844261-181846576	K562	blood:	n/a	chr2:181845600-181845610
44	CCNT2	chr2:181844153-181844351	K562	blood:	n/a	n/a
45	HDAC2	chr2:181844102-181844578	HepG2	liver:	n/a	chr2:181844123-181844132
46	GTF2B	chr2:181844205-181844639	K562	blood:	n/a	n/a
47	UBTF	chr2:181844230-181846715	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:181829069..181832020-chr2:181844085..181846532,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CERKL-3	chr2:181844154-181844393	ENSG00000236153.1

Variant related genes	Relation type
UBE2E3	TF binding region
ENSG00000170035	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:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:181843000-181844400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:181843200-181844400	Enhancers	HMEC	breast
3	chr2:181843400-181844600	Enhancers	Brain Substantia Nigra	brain
4	chr2:181843600-181844400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:181843600-181844400	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr2:181843600-181844600	Enhancers	H9 Cell Line	embryonic stem cell
7	chr2:181843600-181844600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:181843600-181844600	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr2:181843800-181844400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr2:181843800-181844400	Enhancers	NH-A	brain
11	chr2:181843800-181844400	Enhancers	NHDF-Ad	bronchial
12	chr2:181843800-181844600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:181843800-181844600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:181843800-181844600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:181843800-181844600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr2:181843800-181844600	Enhancers	Brain Cingulate Gyrus	brain
17	chr2:181843800-181844600	Enhancers	Fetal Muscle Leg	muscle
18	chr2:181843800-181848600	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr2:181843800-181849200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr2:181844000-181844400	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr2:181844000-181844400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
22	chr2:181844000-181844400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr2:181844000-181844400	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr2:181844000-181844400	Enhancers	Muscle Satellite Cultured Cells	--
25	chr2:181844000-181844400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr2:181844000-181844400	Enhancers	Brain Angular Gyrus	brain
27	chr2:181844000-181844400	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr2:181844000-181844600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
29	chr2:181844000-181844600	Enhancers	Fetal Brain Female	brain
30	chr2:181844000-181844600	Enhancers	Fetal Stomach	stomach
31	chr2:181844000-181844800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr2:181844000-181844800	Enhancers	Fetal Heart	heart
33	chr2:181844000-181844800	Flanking Active TSS	K562	blood
34	chr2:181844000-181845200	Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr2:181844000-181845200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:181844000-181847400	Active TSS	Stomach Smooth Muscle	stomach
37	chr2:181844200-181844400	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr2:181844200-181844400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
39	chr2:181844200-181844400	Bivalent/Poised TSS	Primary neutrophils fromperipheralblood	blood
40	chr2:181844200-181844400	Enhancers	Primary B cells from cord blood	blood
41	chr2:181844200-181844400	Enhancers	Primary B cells from peripheral blood	blood
42	chr2:181844200-181844400	Enhancers	Primary T cells from cord blood	blood
43	chr2:181844200-181844400	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr2:181844200-181844400	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr2:181844200-181844400	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr2:181844200-181844400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr2:181844200-181844400	Enhancers	Adipose Nuclei	Adipose
48	chr2:181844200-181844400	Enhancers	Liver	Liver
49	chr2:181844200-181844400	Enhancers	Brain Anterior Caudate	brain
50	chr2:181844200-181844400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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