Variant report

Variant	rs563675696
Chromosome Location	chr3:155588344-155588345
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	CEBPB	chr3:155587628-155588695	Hela-S3	cervix:	n/a	chr3:155588493-155588504
2	SMC3	chr3:155587823-155588668	Hela-S3	cervix:	n/a	chr3:155588197-155588207 chr3:155588424-155588434
3	MTA3	chr3:155588284-155588865	GM12878	blood:	n/a	n/a
4	HCFC1	chr3:155587045-155589834	Hela-S3	cervix:	n/a	n/a
5	SPI1	chr3:155588342-155588483	K562	blood:	n/a	n/a
6	IRF1	chr3:155587863-155588648	K562	blood:	n/a	chr3:155588426-155588440 chr3:155588201-155588215 chr3:155588124-155588144
7	CTCF	chr3:155588300-155588450	HBMEC	blood vessel:	n/a	chr3:155588393-155588411 chr3:155588395-155588408
8	POLR2A	chr3:155588268-155588747	ECC-1	luminal epithelium:	n/a	n/a
9	CTCF	chr3:155587416-155589160	A549	lung:	n/a	chr3:155588393-155588411 chr3:155588395-155588408 chr3:155588028-155588037
10	POLR2A	chr3:155587743-155588971	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr3:155588300-155588526	Medullo	brain:	n/a	chr3:155588393-155588411 chr3:155588395-155588408
12	CTCF	chr3:155588237-155588546	Spleen_OC	spleen:	n/a	chr3:155588393-155588411 chr3:155588395-155588408
13	E2F4	chr3:155587665-155588635	MCF10A-Er-Src	breast:	n/a	chr3:155588338-155588345 chr3:155588431-155588441 chr3:155588342-155588352 chr3:155588427-155588436 chr3:155588602-155588614
14	CEBPB	chr3:155588315-155588638	K562	blood:	n/a	chr3:155588493-155588504
15	CTCF	chr3:155588320-155588470	AG09319	gingival:	n/a	chr3:155588393-155588411 chr3:155588395-155588408
16	REST	chr3:155588343-155588796	HL-60	blood:	n/a	n/a
17	CTCF	chr3:155588320-155588470	HPAF	blood vessel:	n/a	chr3:155588393-155588411 chr3:155588395-155588408
18	ELF1	chr3:155587913-155588665	K562	blood:	n/a	chr3:155588535-155588544
19	POLR2A	chr3:155587750-155589947	SK-N-MC	brain:	n/a	n/a
20	STAT5A	chr3:155588319-155588774	GM12878	blood:	n/a	chr3:155588762-155588774
21	POLR2A	chr3:155587812-155589870	PANC-1	pancreas:	n/a	n/a
22	NFIC	chr3:155588311-155588686	ECC-1	luminal epithelium:	n/a	n/a
23	CTCF	chr3:155588340-155588490	HEEpiC	esophagus:	n/a	chr3:155588393-155588411 chr3:155588395-155588408
24	POLR2A	chr3:155587845-155589692	Gliobla	brain:	n/a	n/a
25	POLR2A	chr3:155587841-155589683	HepG2	liver:	n/a	n/a
26	MAX	chr3:155588170-155589865	ECC-1	luminal epithelium:	n/a	chr3:155588950-155588960 chr3:155589002-155589012 chr3:155589086-155589096 chr3:155589231-155589241 chr3:155588428-155588438
27	FOXA1	chr3:155588246-155588550	T-47D	breast:	n/a	n/a
28	SMC3	chr3:155588258-155588562	GM12878	blood:	n/a	chr3:155588424-155588434
29	RAD21	chr3:155587464-155588728	SK-N-SH	brain:	n/a	chr3:155588395-155588409
30	MAFK	chr3:155587835-155588547	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr3:155587817-155588720	U87	brain:	n/a	n/a
32	MYC	chr3:155587624-155589380	A549	lung:	n/a	chr3:155588950-155588960 chr3:155589002-155589012 chr3:155589086-155589096 chr3:155589231-155589241 chr3:155588428-155588438
33	SPI1	chr3:155588314-155588487	GM12878	blood:	n/a	n/a
34	E2F6	chr3:155587933-155589683	K562	blood:	n/a	chr3:155589197-155589204 chr3:155589180-155589191 chr3:155588338-155588345 chr3:155589195-155589206 chr3:155588431-155588441 chr3:155589197-155589204 chr3:155588342-155588352 chr3:155588427-155588436 chr3:155589181-155589193 chr3:155588602-155588614 chr3:155589196-155589208 chr3:155588952-155588961 chr3:155589196-155589205 chr3:155589197-155589204
35	RAD21	chr3:155588069-155588601	H1-hESC	embryonic stem cell:	n/a	chr3:155588395-155588409
36	MAZ	chr3:155587870-155589434	HepG2	liver:	n/a	chr3:155588950-155588960 chr3:155589002-155589012 chr3:155589086-155589096 chr3:155589231-155589241 chr3:155588428-155588438
37	CTCF	chr3:155588320-155588470	BE2_C	brain:	n/a	chr3:155588393-155588411 chr3:155588395-155588408
38	POU2F2	chr3:155588282-155588617	GM12891	blood:	n/a	chr3:155588424-155588436
39	POLR2A	chr3:155587784-155589046	HepG2	liver:	n/a	n/a
40	POLR2A	chr3:155587839-155588757	HUVEC	blood vessel:	n/a	n/a
41	CTCF	chr3:155588312-155588528	A549	lung:	n/a	chr3:155588393-155588411 chr3:155588395-155588408
42	POLR2A	chr3:155588290-155588635	HepG2	liver:	n/a	n/a
43	RAD21	chr3:155588241-155588582	HepG2	liver:	n/a	chr3:155588395-155588409
44	POLR2A	chr3:155587582-155590231	MCF10A-Er-Src	breast:	n/a	n/a
45	HEY1	chr3:155587825-155588713	HepG2	liver:	n/a	chr3:155588437-155588452 chr3:155588467-155588482 chr3:155588342-155588357
46	CTCF	chr3:155588340-155588490	GM12864	blood:	n/a	chr3:155588393-155588411 chr3:155588395-155588408
47	HDAC2	chr3:155587872-155588567	HepG2	liver:	n/a	chr3:155587998-155588007
48	GTF2F1	chr3:155587957-155588673	K562	blood:	n/a	n/a
49	SIN3AK20	chr3:155587874-155588662	SK-N-SH	brain:	n/a	n/a
50	CTCF	chr3:155588340-155588490	Hela-S3	cervix:	n/a	chr3:155588393-155588411 chr3:155588395-155588408

No.	Distal block	Cell Line	Cell type
1	chr3:155520264..155525290-chr3:155586627..155590296,8	K562	blood:
2	chr3:155461486..155465793-chr3:155586998..155592801,6	K562	blood:
3	chr3:155461523..155464397-chr3:155587900..155591398,5	MCF-7	breast:
4	chr3:155568718..155574348-chr3:155586235..155593210,15	K562	blood:
5	chr14:24036599..24037349-chr3:155587998..155588957,2	HCT-116	colon:
6	chr19:571619..572299-chr3:155588026..155588830,2	Hela-S3	cervix:
7	chr10:27530732..27532552-chr3:155587161..155588906,2	MCF-7	breast:
8	chr3:155520823..155524412-chr3:155585049..155590112,5	MCF-7	breast:
9	chr3:155522036..155526613-chr3:155586597..155592084,8	K562	blood:
10	chr3:155570444..155573449-chr3:155586982..155591161,10	MCF-7	breast:
11	chr3:155522507..155525053-chr3:155587874..155590161,2	MCF-7	breast:
12	chr3:155477418..155480054-chr3:155586699..155588871,2	MCF-7	breast:
13	chr20:52490662..52493657-chr3:155587949..155590436,2	MCF-7	breast:
14	chr3:155588335..155588840-chr3:196668960..196669519,2	Hela-S3	cervix:
15	chr3:155461486..155463918-chr3:155586998..155589713,4	K562	blood:
16	chr3:155569630..155574596-chr3:155585012..155589734,13	MCF-7	breast:

Variant related genes	Relation type
GMPS	TF binding region
ENSG00000174928	Chromatin interaction
ENSG00000241721	Chromatin interaction
ENSG00000270170	Chromatin interaction
ENSG00000169359	Chromatin interaction
ENSG00000214919	Chromatin interaction
ENSG00000267751	Chromatin interaction
ENSG00000114805	Chromatin interaction
ENSG00000241307	Chromatin interaction
ENSG00000262412	Chromatin interaction
ENSG00000107897	Chromatin interaction
ENSG00000213983	Chromatin interaction
ENSG00000114503	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877680	chr3:155438022-155723064	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv2753744	chr3:155487298-155707298	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv877681	chr3:155535670-155654017	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	esv3325134	chr3:155587683-155590231	Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:155587400-155590000	Active TSS	Aorta	Aorta
2	chr3:155587400-155590600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr3:155587400-155590600	Active TSS	HepG2	liver
4	chr3:155587400-155591000	Active TSS	H1 Cell Line	embryonic stem cell
5	chr3:155587600-155588600	Active TSS	Fetal Brain Female	brain
6	chr3:155587600-155590000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr3:155587600-155590000	Active TSS	Placenta Amnion	Placenta Amnion
8	chr3:155587600-155590000	Active TSS	HSMM	muscle
9	chr3:155587600-155590200	Active TSS	H9 Cell Line	embryonic stem cell
10	chr3:155587600-155590200	Active TSS	Left Ventricle	heart
11	chr3:155587600-155590200	Active TSS	Right Atrium	heart
12	chr3:155587600-155590200	Active TSS	Right Ventricle	heart
13	chr3:155587600-155590200	Active TSS	A549	lung
14	chr3:155587600-155590400	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr3:155587600-155590400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr3:155587600-155590400	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr3:155587600-155590400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr3:155587600-155590800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr3:155587600-155591000	Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr3:155587800-155588400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr3:155587800-155589400	Active TSS	Colonic Mucosa	Colon
22	chr3:155587800-155589800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr3:155587800-155589800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr3:155587800-155589800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr3:155587800-155589800	Active TSS	Esophagus	oesophagus
26	chr3:155587800-155589800	Active TSS	Lung	lung
27	chr3:155587800-155590000	Active TSS	Colon Smooth Muscle	Colon
28	chr3:155587800-155590000	Active TSS	Fetal Kidney	kidney
29	chr3:155587800-155590000	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr3:155587800-155590000	Active TSS	Gastric	stomach
31	chr3:155587800-155590000	Active TSS	Psoas Muscle	Psoas
32	chr3:155587800-155590000	Active TSS	Sigmoid Colon	Sigmoid Colon
33	chr3:155587800-155590000	Active TSS	Small Intestine	intestine
34	chr3:155587800-155590200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr3:155587800-155590200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr3:155587800-155590200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr3:155587800-155590200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr3:155587800-155590200	Active TSS	Ovary	ovary
39	chr3:155587800-155590600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr3:155588000-155588400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
41	chr3:155588000-155588400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
42	chr3:155588000-155588400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr3:155588000-155588400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr3:155588000-155588400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
45	chr3:155588000-155588600	Active TSS	Primary B cells from cord blood	blood
46	chr3:155588000-155588600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr3:155588000-155588600	Enhancers	Fetal Brain Male	brain
48	chr3:155588000-155588800	Active TSS	Primary hematopoietic stem cells	blood
49	chr3:155588000-155589400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr3:155588000-155589400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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