Variant report

Variant	rs2305813
Chromosome Location	chr1:150981267-150981268
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:160)
CpG islands
(count:0)
Chromatin interactive
region (count:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:160 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SMARCB1	chr1:150980753-150981650	Hela-S3	cervix:	n/a	n/a
2	SIN3AK20	chr1:150980180-150981912	MCF-7	breast:	n/a	n/a
3	POLR2A	chr1:150980583-150981653	HEK293	kidney:	n/a	n/a
4	STAT1	chr1:150980677-150981502	GM12878	blood:	n/a	n/a
5	UBTF	chr1:150980768-150982401	K562	blood:	n/a	n/a
6	POLR2A	chr1:150980636-150981284	GM12878	blood:	n/a	n/a
7	GTF3C2	chr1:150980434-150981592	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr1:150980409-150981886	HepG2	liver:	n/a	n/a
9	MAZ	chr1:150980671-150981634	Hela-S3	cervix:	n/a	chr1:150980818-150980827
10	CHD1	chr1:150980641-150981688	GM12878	blood:	n/a	chr1:150981521-150981531
11	POLR2A	chr1:150980724-150981509	MCF-7	breast:	n/a	n/a
12	POLR2A	chr1:150980690-150981685	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr1:150980814-150981676	Hela-S3	cervix:	n/a	n/a
14	CREB1	chr1:150980617-150981389	HepG2	liver:	n/a	n/a
15	POLR2A	chr1:150980699-150981320	MCF-7	breast:	n/a	n/a
16	NR2F2	chr1:150980335-150981268	K562	blood:	n/a	n/a
17	TCF12	chr1:150980623-150981376	ECC-1	luminal epithelium:	n/a	n/a
18	MAX	chr1:150980685-150981783	NB4	blood:	n/a	chr1:150980818-150980827
19	CTCF	chr1:150981220-150981370	AG04449	skin:	n/a	n/a
20	TBL1XR1	chr1:150980324-150981564	K562	blood:	n/a	n/a
21	PML	chr1:150980555-150981459	MCF-7	breast:	n/a	n/a
22	POLR2A	chr1:150980501-150981302	PANC-1	pancreas:	n/a	n/a
23	REST	chr1:150980530-150981339	A549	lung:	n/a	n/a
24	MAX	chr1:150980416-150981866	MCF-7	breast:	n/a	chr1:150980818-150980827
25	MAX	chr1:150980468-150981748	A549	lung:	n/a	chr1:150980818-150980827
26	MAX	chr1:150980605-150981717	ECC-1	luminal epithelium:	n/a	chr1:150980818-150980827
27	MAX	chr1:150980603-150981752	Hela-S3	cervix:	n/a	chr1:150980818-150980827
28	YY1	chr1:150980668-150981267	GM12892	blood:	n/a	chr1:150980883-150980892
29	POLR2A	chr1:150980485-150981505	PBDE	blood:	n/a	n/a
30	MXI1	chr1:150980579-150981604	GM12878	blood:	n/a	n/a
31	HCFC1	chr1:150980019-150982095	Hela-S3	cervix:	n/a	n/a
32	GABPA	chr1:150980256-150981937	MCF-7	breast:	n/a	n/a
33	CREB1	chr1:150980514-150981506	K562	blood:	n/a	n/a
34	CCNT2	chr1:150980695-150981615	K562	blood:	n/a	chr1:150981267-150981276 chr1:150981523-150981532
35	RCOR1	chr1:150980522-150981553	HepG2	liver:	n/a	n/a
36	POLR2A	chr1:150980534-150981670	K562	blood:	n/a	n/a
37	MXI1	chr1:150980478-150981897	HepG2	liver:	n/a	n/a
38	SIN3AK20	chr1:150978184-150981996	MCF-7	breast:	n/a	n/a
39	STAT5A	chr1:150980953-150981277	GM12878	blood:	n/a	n/a
40	E2F6	chr1:150980493-150981445	K562	blood:	n/a	chr1:150980880-150980889
41	MYBL2	chr1:150980415-150981574	HepG2	liver:	n/a	n/a
42	RFX5	chr1:150980481-150981550	Hela-S3	cervix:	n/a	chr1:150980769-150980784 chr1:150980773-150980782 chr1:150980770-150980784
43	KAP1	chr1:150980582-150981981	U2OS	brain:	n/a	n/a
44	ELF1	chr1:150980544-150981400	GM12878	blood:	n/a	chr1:150980879-150980891 chr1:150980883-150980892
45	POLR2A	chr1:150980622-150981709	K562	blood:	n/a	n/a
46	CHD2	chr1:150980688-150981442	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr1:150980691-150981698	K562	blood:	n/a	n/a
48	POLR2A	chr1:150980363-150981281	Raji	blood:	n/a	n/a
49	SIX5	chr1:150980383-150981273	A549	lung:	n/a	chr1:150980803-150980812
50	MXI1	chr1:150980226-150982457	IMR90	lung:	n/a	n/a

No data

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150945812..150948969-chr1:150979293..150982183,4	K562	blood:
2	chr1:150980774..150986118-chr1:151028117..151032528,6	MCF-7	breast:
3	chr1:150974834..150982774-chr1:151014282..151023779,19	MCF-7	breast:
4	chr1:150849097..150850809-chr1:150979255..150981896,2	MCF-7	breast:
5	chr1:150550535..150554049-chr1:150976755..150981799,6	K562	blood:
6	chr1:150979021..150981360-chr1:151118629..151120745,2	K562	blood:
7	chr1:150532436..150535638-chr1:150978193..150982152,3	MCF-7	breast:
8	chr1:150980411..150982537-chr1:151106245..151107794,2	K562	blood:
9	chr1:150979291..150984938-chr1:151030285..151033653,10	K562	blood:
10	chr1:150979986..150982538-chr1:151136841..151139170,3	K562	blood:
11	chr1:150980779..150982400-chr1:151127994..151130267,2	MCF-7	breast:
12	chr1:150981060..150985373-chr1:151041559..151045283,5	MCF-7	breast:
13	chr1:150944222..150949507-chr1:150975860..150982521,8	K562	blood:
14	chr1:150980465..150981394-chr1:151031769..151032709,2	K562	blood:
15	chr1:150334947..150337371-chr1:150979446..150982037,2	K562	blood:
16	chr1:150976577..150980080-chr1:150980788..150983027,4	MCF-7	breast:
17	chr1:150980802..150982666-chr1:150995777..150997822,2	MCF-7	breast:
18	chr1:150951620..150955085-chr1:150979651..150983018,4	K562	blood:
19	chr1:150979416..150982558-chr1:151006468..151010604,5	MCF-7	breast:
20	chr1:150942078..150949693-chr1:150976791..150984782,24	MCF-7	breast:
21	chr1:150952182..150958148-chr1:150976816..150982947,12	MCF-7	breast:
22	chr1:150978947..150982308-chr1:151041500..151045951,4	K562	blood:
23	chr1:150977392..150983338-chr1:151040807..151046211,16	MCF-7	breast:
24	chr1:150979239..150982026-chr1:151136822..151140051,3	MCF-7	breast:
25	chr1:150976723..150987587-chr1:151024685..151036322,24	MCF-7	breast:
26	chr1:150981041..150981622-chr20:52246490..52247233,2	MCF-7	breast:
27	chr1:150939149..150940667-chr1:150979140..150981857,2	MCF-7	breast:
28	chr1:150979769..150983967-chr1:151018069..151024059,8	MCF-7	breast:
29	chr1:150979682..150982247-chr1:150996495..150999456,2	MCF-7	breast:

No data

Variant related genes	Relation type
FAM63A	TF binding region
ENSG00000143418	Chromatin interaction
ENSG00000163156	Chromatin interaction
ENSG00000231073	Chromatin interaction
ENSG00000143437	Chromatin interaction
ENSG00000203804	Chromatin interaction
ENSG00000143384	Chromatin interaction
ENSG00000197622	Chromatin interaction
ENSG00000163154	Chromatin interaction
ENSG00000163141	Chromatin interaction
ENSG00000163125	Chromatin interaction
ENSG00000213190	Chromatin interaction
ENSG00000143443	Chromatin interaction
ENSG00000143363	Chromatin interaction
ENSG00000143434	Chromatin interaction
ENSG00000143458	Chromatin interaction
ENSG00000163155	Chromatin interaction
ENSG00000143409	Chromatin interaction
ENSG00000143412	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs12406660	0.87[AFR][1000 genomes]

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	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv522840	chr1:150933723-151347746	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
4	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2305813	CTSS	Cis_1M	lymphoblastoid	RTeQTL
rs2305813	HORMAD1	cis	Nerve Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150975400-150982400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr1:150977400-150981800	Active TSS	Esophagus	oesophagus
3	chr1:150978000-150981400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
4	chr1:150978800-150981800	Active TSS	HSMMtube	muscle
5	chr1:150980000-150982000	Flanking Active TSS	Primary hematopoietic stem cells	blood
6	chr1:150980200-150982000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:150980200-150982000	Flanking Active TSS	Fetal Muscle Leg	muscle
8	chr1:150980200-150982400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:150980400-150981400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:150980400-150981400	Active TSS	Fetal Brain Female	brain
11	chr1:150980400-150981400	Active TSS	Sigmoid Colon	Sigmoid Colon
12	chr1:150980400-150981600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:150980400-150981600	Active TSS	Fetal Brain Male	brain
14	chr1:150980400-150981800	Active TSS	H1 Cell Line	embryonic stem cell
15	chr1:150980400-150981800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
16	chr1:150980400-150981800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
17	chr1:150980400-150981800	Active TSS	Aorta	Aorta
18	chr1:150980400-150981800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr1:150980400-150981800	Active TSS	Colonic Mucosa	Colon
20	chr1:150980400-150981800	Active TSS	Psoas Muscle	Psoas
21	chr1:150980400-150981800	Active TSS	NHLF	lung
22	chr1:150980400-150982000	Active TSS	H9 Cell Line	embryonic stem cell
23	chr1:150980400-150982400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr1:150980600-150981400	Active TSS	Primary B cells from peripheral blood	blood
25	chr1:150980600-150981400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
26	chr1:150980600-150981400	Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr1:150980600-150981400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr1:150980600-150981400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr1:150980600-150981400	Active TSS	Brain Inferior Temporal Lobe	brain
30	chr1:150980600-150981400	Bivalent/Poised TSS	HepG2	liver
31	chr1:150980600-150981600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr1:150980600-150981600	Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr1:150980600-150981600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
34	chr1:150980600-150981600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
35	chr1:150980600-150981600	Active TSS	Primary T killer memory cells from peripheral blood	blood
36	chr1:150980600-150981600	Active TSS	Brain Substantia Nigra	brain
37	chr1:150980600-150981600	Active TSS	Colon Smooth Muscle	Colon
38	chr1:150980600-150981600	Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr1:150980600-150981600	Active TSS	Fetal Stomach	stomach
40	chr1:150980600-150981600	Active TSS	A549	lung
41	chr1:150980600-150981600	Active TSS	NHDF-Ad	bronchial
42	chr1:150980600-150981800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr1:150980600-150981800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr1:150980600-150981800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr1:150980600-150981800	Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr1:150980600-150981800	Active TSS	Brain Angular Gyrus	brain
47	chr1:150980600-150981800	Active TSS	Fetal Intestine Large	intestine
48	chr1:150980600-150982000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr1:150980600-150982000	Flanking Active TSS	Fetal Muscle Trunk	muscle
50	chr1:150980600-150982000	Active TSS	Right Ventricle	heart

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