Variant report

Variant	rs536206288
Chromosome Location	chr2:114647007-114647008
allele	A/C
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	EP300	chr2:114646932-114647900	K562	blood:	n/a	chr2:114647334-114647348 chr2:114647463-114647479 chr2:114647682-114647698
5	CHD2	chr2:114646783-114648596	H1-hESC	embryonic stem cell:	n/a	n/a
6	ELF1	chr2:114646977-114648004	GM12878	blood:	n/a	n/a
7	YY1	chr2:114646973-114648214	SK-N-SH_RA	brain:	n/a	chr2:114647534-114647542 chr2:114647530-114647542 chr2:114647528-114647548 chr2:114647941-114647960 chr2:114647531-114647541 chr2:114648096-114648110 chr2:114648096-114648105 chr2:114647948-114647958 chr2:114648094-114648105 chr2:114647532-114647540 chr2:114647512-114647526 chr2:114647002-114647013 chr2:114647949-114647957
8	IKZF1	chr2:114646893-114647700	GM12878	blood:	n/a	n/a
9	HCFC1	chr2:114646881-114648632	K562	blood:	n/a	n/a
10	TAF1	chr2:114646953-114648000	GM12892	blood:	n/a	n/a
11	SIN3AK20	chr2:114646869-114648995	MCF-7	breast:	n/a	n/a
12	SP1	chr2:114646950-114647901	HCT-116	colon:	n/a	chr2:114646997-114647011
13	POLR2A	chr2:114646785-114647999	PFSK-1	brain:	n/a	n/a
14	MXI1	chr2:114646885-114647840	Hela-S3	cervix:	n/a	n/a
15	MAZ	chr2:114646907-114648801	Hela-S3	cervix:	n/a	n/a
16	POU2F2	chr2:114646939-114648723	GM12878	blood:	n/a	n/a
17	REST	chr2:114646992-114647893	SK-N-SH	brain:	n/a	n/a
18	MYC	chr2:114646964-114648751	K562	blood:	n/a	n/a
19	TRIM28	chr2:114646857-114647989	K562	blood:	n/a	n/a
20	MXI1	chr2:114646964-114647955	HepG2	liver:	n/a	n/a
21	POLR2A	chr2:114646884-114649051	GM12892	blood:	n/a	n/a
22	RFX5	chr2:114647000-114647799	HepG2	liver:	n/a	n/a
23	MAX	chr2:114646913-114648255	H1-hESC	embryonic stem cell:	n/a	n/a
24	HEY1	chr2:114646872-114648756	K562	blood:	n/a	chr2:114648094-114648109
25	IRF1	chr2:114646728-114647844	K562	blood:	n/a	chr2:114647282-114647296 chr2:114647283-114647297
26	RAD21	chr2:114646930-114647763	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr2:114646865-114647946	SK-N-SH	brain:	n/a	n/a
28	POLR2A	chr2:114643857-114649205	GM12891	blood:	n/a	n/a
29	POLR2A	chr2:114646809-114648708	H1-hESC	embryonic stem cell:	n/a	n/a
30	ATF2	chr2:114646723-114647747	GM12878	blood:	n/a	n/a
31	POU2F2	chr2:114646922-114647914	GM12891	blood:	n/a	n/a
32	CEBPB	chr2:114646501-114647930	GM12878	blood:	n/a	n/a
33	YY1	chr2:114646935-114648324	H1-hESC	embryonic stem cell:	n/a	chr2:114647534-114647542 chr2:114647530-114647542 chr2:114647528-114647548 chr2:114647941-114647960 chr2:114647531-114647541 chr2:114648096-114648110 chr2:114648096-114648105 chr2:114647948-114647958 chr2:114648094-114648105 chr2:114647532-114647540 chr2:114647512-114647526 chr2:114647002-114647013 chr2:114647949-114647957
34	POLR2A	chr2:114646960-114648838	K562	blood:	n/a	n/a
35	POLR2A	chr2:114646852-114647925	K562	blood:	n/a	n/a
36	SP1	chr2:114646825-114647884	H1-hESC	embryonic stem cell:	n/a	chr2:114646997-114647011
37	TBP	chr2:114646750-114648889	H1-hESC	embryonic stem cell:	n/a	n/a
38	POU2F2	chr2:114646981-114647909	GM12891	blood:	n/a	n/a
39	PAX5	chr2:114646995-114647860	GM12878	blood:	n/a	chr2:114647287-114647297
40	RELA	chr2:114646839-114647880	GM12892	blood:	n/a	chr2:114647381-114647390 chr2:114647381-114647390
41	POLR2A	chr2:114646950-114649014	PBDE	blood:	n/a	n/a
42	YY1	chr2:114646881-114648412	HepG2	liver:	n/a	chr2:114647534-114647542 chr2:114647530-114647542 chr2:114647528-114647548 chr2:114647941-114647960 chr2:114647531-114647541 chr2:114648096-114648110 chr2:114648096-114648105 chr2:114647948-114647958 chr2:114648094-114648105 chr2:114647532-114647540 chr2:114647512-114647526 chr2:114647002-114647013 chr2:114647949-114647957
43	ATF2	chr2:114647004-114647954	GM12878	blood:	n/a	n/a
44	BCLAF1	chr2:114646904-114649154	GM12878	blood:	n/a	chr2:114648180-114648193 chr2:114648094-114648103 chr2:114647523-114647536 chr2:114648262-114648271
45	MAX	chr2:114646977-114648888	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr2:114643825-114649166	GM12892	blood:	n/a	n/a
47	TBP	chr2:114646842-114649197	K562	blood:	n/a	n/a
48	ATF3	chr2:114646956-114647824	A549	lung:	n/a	n/a
49	TAF1	chr2:114646866-114648921	GM12878	blood:	n/a	n/a
50	FOSL2	chr2:114646957-114647688	A549	lung:	n/a	chr2:114647000-114647009 chr2:114647383-114647397

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
ENSG00000135966	Chromatin interaction
ENSG00000239077	Chromatin interaction
ENSG00000159399	Chromatin interaction
ENSG00000115084	Chromatin interaction
ENSG00000272711	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	chr2:114645400-114647200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
3	chr2:114645400-114649800	Active TSS	GM12878-XiMat	blood
4	chr2:114645800-114648800	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr2:114645800-114649600	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr2:114646000-114647200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr2:114646000-114649000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:114646000-114649200	Active TSS	H9 Cell Line	embryonic stem cell
9	chr2:114646000-114649800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr2:114646000-114650000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr2:114646200-114647200	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr2:114646200-114649000	Active TSS	Stomach Mucosa	stomach
13	chr2:114646200-114649200	Active TSS	Fetal Kidney	kidney
14	chr2:114646200-114649400	Active TSS	H1 Cell Line	embryonic stem cell
15	chr2:114646200-114649400	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr2:114646400-114647200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
17	chr2:114646400-114647200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
18	chr2:114646400-114648800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:114646400-114648800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr2:114646400-114649200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr2:114646400-114649200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:114646400-114649200	Active TSS	Fetal Muscle Trunk	muscle
23	chr2:114646400-114649400	Active TSS	Colonic Mucosa	Colon
24	chr2:114646400-114649800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:114646400-114649800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr2:114646400-114650000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:114646400-114650000	Active TSS	Psoas Muscle	Psoas
28	chr2:114646400-114650000	Active TSS	HSMM	muscle
29	chr2:114646400-114650200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:114646400-114650800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr2:114646600-114647200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
32	chr2:114646600-114647200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
33	chr2:114646600-114647200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr2:114646600-114647200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
35	chr2:114646600-114647400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
36	chr2:114646600-114647800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:114646600-114647800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr2:114646600-114648000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr2:114646600-114648200	Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr2:114646600-114648400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr2:114646600-114648600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr2:114646600-114648800	Active TSS	Pancreas	Pancrea
43	chr2:114646600-114648800	Active TSS	Sigmoid Colon	Sigmoid Colon
44	chr2:114646600-114649000	Active TSS	Ovary	ovary
45	chr2:114646600-114649000	Active TSS	Placenta Amnion	Placenta Amnion
46	chr2:114646600-114649200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr2:114646600-114649200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr2:114646600-114649200	Active TSS	Brain Angular Gyrus	brain
49	chr2:114646600-114649200	Active TSS	Brain Inferior Temporal Lobe	brain
50	chr2:114646600-114649200	Active TSS	Fetal Lung	lung

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