Variant report

Variant	rs534587581
Chromosome Location	chr2:114646846-114646847
allele	A/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	POLR2A	chr2:114646585-114647898	U87	brain:	n/a	n/a
2	POLR2A	chr2:114646525-114649045	H1-hESC	embryonic stem cell:	n/a	n/a
3	BRCA1	chr2:114646834-114647754	Hela-S3	cervix:	n/a	n/a
4	CHD2	chr2:114646783-114648596	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr2:114646785-114647999	PFSK-1	brain:	n/a	n/a
6	IRF1	chr2:114646728-114647844	K562	blood:	n/a	chr2:114647282-114647296 chr2:114647283-114647297
7	POLR2A	chr2:114643857-114649205	GM12891	blood:	n/a	n/a
8	POLR2A	chr2:114646809-114648708	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr2:114646723-114647747	GM12878	blood:	n/a	n/a
10	CEBPB	chr2:114646501-114647930	GM12878	blood:	n/a	n/a
11	SP1	chr2:114646825-114647884	H1-hESC	embryonic stem cell:	n/a	chr2:114646997-114647011
12	TBP	chr2:114646750-114648889	H1-hESC	embryonic stem cell:	n/a	n/a
13	RELA	chr2:114646839-114647880	GM12892	blood:	n/a	chr2:114647381-114647390 chr2:114647381-114647390
14	POLR2A	chr2:114643825-114649166	GM12892	blood:	n/a	n/a
15	TBP	chr2:114646842-114649197	K562	blood:	n/a	n/a
16	REST	chr2:114646345-114648735	H1-neurons	neurons:	n/a	n/a
17	POLR2A	chr2:114643910-114650805	GM12878	blood:	n/a	n/a
18	MYBL2	chr2:114646719-114647920	HepG2	liver:	n/a	n/a
19	POLR2A	chr2:114646263-114647898	U87	brain:	n/a	n/a
20	POLR2A	chr2:114646291-114649087	K562	blood:	n/a	n/a
21	ATF2	chr2:114646819-114647659	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr2:114646562-114649092	GM18951	blood:	n/a	n/a
23	MBD4	chr2:114646686-114647759	HepG2	liver:	n/a	n/a
24	POLR2A	chr2:114646596-114649078	Raji	blood:	n/a	n/a
25	MTA3	chr2:114646698-114647548	GM12878	blood:	n/a	n/a
26	SP1	chr2:114646704-114647985	HCT-116	colon:	n/a	chr2:114646997-114647011 chr2:114647956-114647970 chr2:114647919-114647928
27	POLR2A	chr2:114646667-114646883	H1-hESC	embryonic stem cell:	n/a	n/a
28	MYBL2	chr2:114646758-114647962	HepG2	liver:	n/a	n/a
29	REST	chr2:114646550-114647877	H1-neurons	neurons:	n/a	n/a
30	RELA	chr2:114646841-114647855	GM18526	blood:	n/a	chr2:114647381-114647390 chr2:114647381-114647390
31	IRF1	chr2:114646406-114647897	K562	blood:	n/a	chr2:114647282-114647296 chr2:114647283-114647297
32	FOXM1	chr2:114646508-114648927	GM12878	blood:	n/a	n/a
33	POLR2A	chr2:114646638-114649048	GM12891	blood:	n/a	n/a
34	POLR2A	chr2:114646736-114648915	HUVEC	blood vessel:	n/a	n/a
35	POLR2A	chr2:114645870-114648801	SK-N-MC	brain:	n/a	n/a
36	TBL1XR1	chr2:114646315-114648774	GM12878	blood:	n/a	n/a
37	POLR2A	chr2:114644799-114649079	HepG2	liver:	n/a	n/a
38	MAX	chr2:114646833-114648890	A549	lung:	n/a	n/a
39	STAT1	chr2:114646561-114647714	GM12878	blood:	n/a	n/a
40	MXI1	chr2:114646608-114649272	IMR90	lung:	n/a	n/a
41	UBTF	chr2:114646719-114648573	K562	blood:	n/a	n/a
42	MAZ	chr2:114646541-114649026	K562	blood:	n/a	n/a
43	SP1	chr2:114646784-114647866	A549	lung:	n/a	chr2:114646997-114647011
44	EP300	chr2:114646826-114647788	HepG2	liver:	n/a	chr2:114647334-114647348 chr2:114647463-114647479 chr2:114647682-114647698
45	MAZ	chr2:114646746-114649029	GM12878	blood:	n/a	n/a
46	CHD1	chr2:114646374-114649786	GM12878	blood:	n/a	n/a
47	HCFC1	chr2:114646720-114649221	Hela-S3	cervix:	n/a	n/a
48	TBL1XR1	chr2:114646123-114647890	K562	blood:	n/a	n/a
49	POLR2A	chr2:114646159-114649120	IMR90	lung:	n/a	n/a
50	TAF1	chr2:114646832-114648744	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:114500995..114503917-chr2:114646360..114648344,2	MCF-7	breast:
2	chr2:114510034..114517579-chr2:114643441..114655407,23	MCF-7	breast:
3	chr2:114511479..114519908-chr2:114641728..114650266,13	MCF-7	breast:
4	chr2:114604030..114606548-chr2:114644904..114647521,3	K562	blood:
5	chr2:105945454..105947093-chr2:114645537..114647581,2	K562	blood:
6	chr2:114613082..114614905-chr2:114645672..114647278,2	K562	blood:
7	chr2:114512680..114516386-chr2:114646106..114650521,15	K562	blood:
8	chr2:75060777..75061295-chr2:114646568..114647319,2	NB4	blood:
9	chr2:114512629..114516386-chr2:114645660..114650521,15	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC35F5-18	chr2:114645780-114647327	ENSG00000270019.1

Variant related genes	Relation type
ACTR3	TF binding region
ENSG00000159399	Chromatin interaction
ENSG00000115084	Chromatin interaction
ENSG00000272711	Chromatin interaction
ENSG00000239077	Chromatin interaction
ENSG00000135966	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3379758	chr2:114646832-114649180	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 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	chr2:114644600-114649600	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr2:114645400-114647000	Weak transcription	Lung	lung
3	chr2:114645400-114647200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
4	chr2:114645400-114649800	Active TSS	GM12878-XiMat	blood
5	chr2:114645800-114648800	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr2:114645800-114649600	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr2:114646000-114647000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
8	chr2:114646000-114647000	Flanking Active TSS	Osteobl	bone
9	chr2:114646000-114647200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr2:114646000-114649000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:114646000-114649200	Active TSS	H9 Cell Line	embryonic stem cell
12	chr2:114646000-114649800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:114646000-114650000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:114646200-114647000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr2:114646200-114647200	Flanking Active TSS	Primary B cells from cord blood	blood
16	chr2:114646200-114649000	Active TSS	Stomach Mucosa	stomach
17	chr2:114646200-114649200	Active TSS	Fetal Kidney	kidney
18	chr2:114646200-114649400	Active TSS	H1 Cell Line	embryonic stem cell
19	chr2:114646200-114649400	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr2:114646400-114647000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
21	chr2:114646400-114647000	Flanking Active TSS	Primary B cells from peripheral blood	blood
22	chr2:114646400-114647000	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr2:114646400-114647000	Flanking Active TSS	Liver	Liver
24	chr2:114646400-114647000	Weak transcription	Spleen	Spleen
25	chr2:114646400-114647200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
26	chr2:114646400-114647200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr2:114646400-114648800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:114646400-114648800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr2:114646400-114649200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr2:114646400-114649200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr2:114646400-114649200	Active TSS	Fetal Muscle Trunk	muscle
32	chr2:114646400-114649400	Active TSS	Colonic Mucosa	Colon
33	chr2:114646400-114649800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr2:114646400-114649800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr2:114646400-114650000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr2:114646400-114650000	Active TSS	Psoas Muscle	Psoas
37	chr2:114646400-114650000	Active TSS	HSMM	muscle
38	chr2:114646400-114650200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:114646400-114650800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr2:114646600-114647000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
41	chr2:114646600-114647000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
42	chr2:114646600-114647000	Flanking Active TSS	Brain Cingulate Gyrus	brain
43	chr2:114646600-114647000	Active TSS	Brain Germinal Matrix	brain
44	chr2:114646600-114647000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
45	chr2:114646600-114647000	Flanking Active TSS	Placenta	Placenta
46	chr2:114646600-114647200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
47	chr2:114646600-114647200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
48	chr2:114646600-114647200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr2:114646600-114647200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
50	chr2:114646600-114647400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood

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