Variant report

Variant	rs564685623
Chromosome Location	chr2:98290236-98290237
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	MAFF	chr2:98290059-98291167	K562	blood:	n/a	n/a
2	MAZ	chr2:98289648-98290809	K562	blood:	n/a	chr2:98290432-98290441
3	HMGN3	chr2:98289880-98290729	K562	blood:	n/a	n/a
4	HCFC1	chr2:98290150-98290481	K562	blood:	n/a	n/a
5	TBP	chr2:98289870-98290350	K562	blood:	n/a	n/a
6	ATF1	chr2:98289774-98290894	K562	blood:	n/a	n/a
7	CEBPD	chr2:98289991-98290393	K562	blood:	n/a	n/a
8	POLR2A	chr2:98289603-98290667	K562	blood:	n/a	n/a
9	ZMIZ1	chr2:98290100-98290822	K562	blood:	n/a	n/a
10	PML	chr2:98290165-98290714	GM12878	blood:	n/a	chr2:98290363-98290371
11	MYC	chr2:98290026-98290442	K562	blood:	n/a	chr2:98290432-98290441
12	MAX	chr2:98289605-98290405	K562	blood:	n/a	n/a
13	TBL1XR1	chr2:98289858-98290732	K562	blood:	n/a	n/a
14	MAFK	chr2:98289908-98290587	K562	blood:	n/a	n/a
15	UBTF	chr2:98290016-98290359	K562	blood:	n/a	n/a
16	EP300	chr2:98290234-98290883	GM12878	blood:	n/a	chr2:98290829-98290836
17	TEAD4	chr2:98289991-98290444	K562	blood:	n/a	n/a
18	MXI1	chr2:98290229-98290711	GM12878	blood:	n/a	n/a
19	UBTF	chr2:98289659-98290738	K562	blood:	n/a	n/a
20	POLR2A	chr2:98289675-98290632	K562	blood:	n/a	n/a
21	CBX3	chr2:98289713-98290370	K562	blood:	n/a	n/a
22	JUND	chr2:98289605-98290765	K562	blood:	n/a	chr2:98289770-98289781 chr2:98289771-98289780 chr2:98289773-98289780
23	RUNX3	chr2:98290227-98290849	GM12878	blood:	n/a	n/a
24	CUX1	chr2:98289765-98290963	K562	blood:	n/a	n/a
25	ZBTB7A	chr2:98290004-98290288	K562	blood:	n/a	n/a
26	POLR2A	chr2:98290006-98290340	K562	blood:	n/a	n/a
27	POLR2A	chr2:98289956-98290374	K562	blood:	n/a	n/a
28	GABPA	chr2:98290096-98290429	K562	blood:	n/a	n/a
29	TAL1	chr2:98289985-98290702	K562	blood:	n/a	n/a
30	RCOR1	chr2:98289690-98290801	K562	blood:	n/a	n/a
31	ELK1	chr2:98290113-98290428	K562	blood:	n/a	n/a
32	MYC	chr2:98290029-98290598	K562	blood:	n/a	chr2:98290432-98290441
33	SPI1	chr2:98290125-98290266	K562	blood:	n/a	chr2:98290226-98290233
34	CHD2	chr2:98289973-98290358	K562	blood:	n/a	n/a
35	POLR2A	chr2:98290005-98290601	GM12891	blood:	n/a	n/a
36	NR2F2	chr2:98289984-98290560	K562	blood:	n/a	n/a
37	CCNT2	chr2:98289981-98290644	K562	blood:	n/a	chr2:98290258-98290278
38	NR2F2	chr2:98289851-98290822	K562	blood:	n/a	n/a
39	MTA3	chr2:98290158-98290748	GM12878	blood:	n/a	n/a
40	MAZ	chr2:98290219-98290679	GM12878	blood:	n/a	chr2:98290432-98290441
41	HDAC2	chr2:98290091-98290315	K562	blood:	n/a	chr2:98290268-98290277
42	BHLHE40	chr2:98289690-98290897	K562	blood:	n/a	n/a
43	NFIC	chr2:98290136-98290899	GM12878	blood:	n/a	n/a
44	GATA2	chr2:98289955-98290423	K562	blood:	n/a	chr2:98290267-98290276 chr2:98290258-98290275 chr2:98290267-98290277 chr2:98290265-98290278 chr2:98290269-98290276
45	MAX	chr2:98289707-98290601	K562	blood:	n/a	chr2:98290432-98290441
46	EP300	chr2:98289994-98290858	K562	blood:	n/a	chr2:98290829-98290836 chr2:98290140-98290147
47	TEAD4	chr2:98289913-98290881	K562	blood:	n/a	n/a
48	EP300	chr2:98290130-98290883	GM12878	blood:	n/a	chr2:98290829-98290836 chr2:98290140-98290147
49	RCOR1	chr2:98289705-98290495	K562	blood:	n/a	n/a
50	ATF2	chr2:98290233-98290789	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:98286306..98287909-chr2:98288768..98291732,2	MCF-7	breast:
2	chr2:98279912..98282586-chr2:98290130..98292098,3	K562	blood:
3	chr2:98261015..98264268-chr2:98289158..98291782,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZAP70-2	chr2:98289635-98292184	NONHSAT072675
2	lnc-ZAP70-2	chr2:98289635-98291020	NONHSAT072676

Variant related genes	Relation type
LINC01125	TF binding region
ENSG00000115073	Chromatin interaction
ENSG00000228486	Chromatin interaction
ENSG00000135940	Chromatin interaction
ENSG00000201806	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757819	chr2:97571109-98336507	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
2	esv2759077	chr2:97571109-98336507	Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
3	esv1829350	chr2:98170405-98315611	Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv531382	chr2:98250628-98457616	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	esv3451326	chr2:98289174-98304076	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98281000-98290400	Weak transcription	Spleen	Spleen
2	chr2:98281000-98323800	Weak transcription	Gastric	stomach
3	chr2:98281400-98295200	Weak transcription	Esophagus	oesophagus
4	chr2:98281600-98290400	Weak transcription	Thymus	Thymus
5	chr2:98281600-98291400	Weak transcription	Right Atrium	heart
6	chr2:98281600-98292000	Weak transcription	Adipose Nuclei	Adipose
7	chr2:98281600-98292800	Weak transcription	HSMM	muscle
8	chr2:98281600-98293200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr2:98281600-98294800	Weak transcription	Brain Anterior Caudate	brain
10	chr2:98281600-98295400	Weak transcription	Right Ventricle	heart
11	chr2:98281600-98298800	Weak transcription	Aorta	Aorta
12	chr2:98281800-98293800	Weak transcription	Brain Angular Gyrus	brain
13	chr2:98281800-98296200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:98281800-98296200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:98282000-98292000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:98282000-98293800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr2:98285600-98292200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr2:98286200-98292000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr2:98288600-98293600	Weak transcription	Fetal Muscle Leg	muscle
20	chr2:98289200-98291600	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr2:98289200-98292000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr2:98289400-98290400	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr2:98289400-98292200	Enhancers	Primary hematopoietic stem cells	blood
24	chr2:98289600-98290400	Enhancers	Fetal Thymus	thymus
25	chr2:98289600-98290400	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr2:98289600-98291600	Enhancers	GM12878-XiMat	blood
27	chr2:98289800-98290600	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr2:98289800-98291000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr2:98289800-98291000	Flanking Active TSS	K562	blood
30	chr2:98289800-98293600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr2:98290000-98290400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr2:98290200-98290400	Enhancers	Pancreas	Pancrea

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