Variant report

Variant	rs17018375
Chromosome Location	chr1:212209607-212209608
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	MAX	chr1:212208121-212209696	NB4	blood:	n/a	chr1:212208643-212208652
2	MYC	chr1:212207746-212209655	A549	lung:	n/a	chr1:212208643-212208652
3	JUND	chr1:212207999-212209638	K562	blood:	n/a	chr1:212209072-212209081 chr1:212209058-212209067
4	STAT5A	chr1:212208157-212209654	K562	blood:	n/a	chr1:212209315-212209338
5	TBL1XR1	chr1:212207742-212209819	K562	blood:	n/a	n/a
6	CHD2	chr1:212208123-212209688	K562	blood:	n/a	n/a
7	POLR2A	chr1:212207982-212209730	K562	blood:	n/a	n/a
8	MXI1	chr1:212208018-212209634	Hela-S3	cervix:	n/a	n/a
9	CBX3	chr1:212207864-212209774	K562	blood:	n/a	n/a
10	MAX	chr1:212208150-212209709	Hela-S3	cervix:	n/a	chr1:212208643-212208652
11	TBP	chr1:212207976-212209928	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr1:212208083-212209775	K562	blood:	n/a	n/a
13	MAZ	chr1:212207822-212209703	IMR90	lung:	n/a	chr1:212208643-212208652
14	SIN3AK20	chr1:212208187-212209624	A549	lung:	n/a	n/a
15	SPI1	chr1:212208288-212209798	HL-60	blood:	n/a	n/a
16	REST	chr1:212208021-212209925	A549	lung:	n/a	chr1:212208565-212208578
17	POLR2A	chr1:212207983-212209690	MCF10A-Er-Src	breast:	n/a	n/a
18	E2F4	chr1:212207802-212211007	MCF10A-Er-Src	breast:	n/a	chr1:212209093-212209101 chr1:212209082-212209090 chr1:212209077-212209092 chr1:212208511-212208518 chr1:212209082-212209090 chr1:212209094-212209101 chr1:212209081-212209091 chr1:212208511-212208518 chr1:212209071-212209080 chr1:212209081-212209092 chr1:212208587-212208596 chr1:212209082-212209093 chr1:212209073-212209082 chr1:212209081-212209089 chr1:212208949-212208958 chr1:212209002-212209011 chr1:212208511-212208518 chr1:212209082-212209089 chr1:212208898-212208907
19	POLR2A	chr1:212207943-212209813	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr1:212208237-212210046	K562	blood:	n/a	n/a
21	POLR2A	chr1:212208301-212209617	HL-60	blood:	n/a	n/a
22	TEAD4	chr1:212207823-212210112	K562	blood:	n/a	n/a
23	POLR2A	chr1:212208114-212209806	GM12891	blood:	n/a	n/a
24	RUNX3	chr1:212209456-212209969	GM12878	blood:	n/a	n/a
25	CHD1	chr1:212208280-212210101	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr1:212208293-212209869	HL-60	blood:	n/a	n/a
27	KAP1	chr1:212208053-212209698	HEK293	kidney:	n/a	n/a
28	TCF12	chr1:212207999-212209661	A549	lung:	n/a	n/a
29	SIN3A	chr1:212208137-212209823	GM12878	blood:	n/a	n/a
30	MAFK	chr1:212208066-212209828	K562	blood:	n/a	chr1:212208633-212208648 chr1:212208303-212208318
31	EP300	chr1:212207898-212209801	K562	blood:	n/a	n/a
32	RELA	chr1:212208160-212209715	GM10847	blood:	n/a	n/a
33	MAX	chr1:212208214-212209844	ECC-1	luminal epithelium:	n/a	chr1:212208643-212208652
34	MXI1	chr1:212207977-212209661	GM12878	blood:	n/a	n/a
35	MAX	chr1:212208204-212209637	HepG2	liver:	n/a	chr1:212208643-212208652
36	PML	chr1:212208220-212209801	K562	blood:	n/a	n/a
37	POLR2A	chr1:212207995-212209658	HepG2	liver:	n/a	n/a
38	SIN3AK20	chr1:212208548-212209612	PANC-1	pancreas:	n/a	n/a
39	POLR2A	chr1:212208205-212209792	K562	blood:	n/a	n/a
40	POLR2A	chr1:212208062-212209924	PBDE	blood:	n/a	n/a
41	MAX	chr1:212207957-212209652	K562	blood:	n/a	chr1:212208643-212208652
42	SIN3AK20	chr1:212208039-212209645	PANC-1	pancreas:	n/a	n/a
43	TAF1	chr1:212208254-212209654	H1-hESC	embryonic stem cell:	n/a	n/a
44	MYC	chr1:212208186-212210058	MCF10A-Er-Src	breast:	n/a	chr1:212208643-212208652
45	RCOR1	chr1:212207925-212209771	K562	blood:	n/a	n/a
46	POLR2A	chr1:212208292-212209669	K562	blood:	n/a	n/a
47	HCFC1	chr1:212207412-212210962	Hela-S3	cervix:	n/a	n/a
48	NR2F2	chr1:212208199-212209766	K562	blood:	n/a	n/a
49	MYC	chr1:212209539-212209691	MCF10A-Er-Src	breast:	n/a	n/a
50	CTCF	chr1:212207713-212209688	SK-N-SH	brain:	n/a	chr1:212208623-212208636 chr1:212208424-212208442 chr1:212208613-212208634 chr1:212208620-212208638 chr1:212208620-212208633 chr1:212208622-212208643 chr1:212208618-212208636 chr1:212208621-212208637 chr1:212208624-212208633

No.	Distal block	Cell Line	Cell type
1	chr1:212209083..212209748-chr12:69978903..69979679,2	Hela-S3	cervix:
2	chr1:212207393..212212126-chr1:212456103..212460187,5	K562	blood:
3	chr1:212181923..212187043-chr1:212203247..212211054,10	K562	blood:
4	chr1:212206622..212210088-chr1:212456790..212460936,6	K562	blood:
5	chr1:212198329..212200446-chr1:212208407..212211007,2	MCF-7	breast:
6	chr1:211848085..211850808-chr1:212208417..212210048,2	K562	blood:
7	chr1:212208971..212209662-chr20:58515021..58515695,2	Hela-S3	cervix:
8	chr1:211848085..211850740-chr1:212207683..212210151,5	K562	blood:
9	chr1:212002304..212005337-chr1:212206926..212210304,4	K562	blood:
10	chr1:70687006..70687600-chr1:212208863..212209612,2	Hela-S3	cervix:

Variant related genes	Relation type
INTS7	TF binding region
ENSG00000116754	Chromatin interaction
ENSG00000117650	Chromatin interaction
ENSG00000229258	Chromatin interaction
ENSG00000132825	Chromatin interaction
ENSG00000196227	Chromatin interaction
ENSG00000166226	Chromatin interaction
ENSG00000066027	Chromatin interaction
ENSG00000143493	Chromatin interaction
ENSG00000123684	Chromatin interaction
ENSG00000231057	Chromatin interaction
ENSG00000212187	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10494949	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10494950	0.82[CEU][hapmap];1.00[GIH][hapmap]
rs1052351	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17018170	0.81[EUR][1000 genomes]
rs17018182	0.81[EUR][1000 genomes]
rs17018199	0.81[EUR][1000 genomes]
rs17018234	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17018237	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17018244	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17018248	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17018249	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17018262	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17018284	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17018310	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17018311	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17018329	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17018332	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17018335	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17018340	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17018342	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17018392	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17018399	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17018403	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17018418	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17018426	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17018435	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17018458	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17018472	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17018511	1.00[CEU][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17018514	1.00[AMR][1000 genomes]
rs17018516	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17018540	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1890345	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs1933594	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2358385	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[EUR][1000 genomes]
rs41275374	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41502452	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5780667	1.00[EUR][1000 genomes]
rs73091032	0.81[EUR][1000 genomes]
rs73091037	0.81[EUR][1000 genomes]
rs7415591	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9662621	1.00[YRI][hapmap]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17018375	CCDC82	trans	brain	seeQTL
rs17018375	FARP1	trans	lymphoblastoid	seeQTL

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212206800-212210400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:212207000-212210400	Active TSS	NHLF	lung
3	chr1:212207000-212211000	Active TSS	GM12878-XiMat	blood
4	chr1:212207200-212210600	Active TSS	Hela-S3	cervix
5	chr1:212207200-212210600	Active TSS	K562	blood
6	chr1:212207200-212210800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:212207200-212211400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:212207400-212209800	Active TSS	Osteobl	bone
9	chr1:212207400-212210200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:212207400-212210400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:212207400-212210400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:212207400-212210400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:212207400-212210400	Active TSS	Fetal Intestine Large	intestine
14	chr1:212207400-212210400	Active TSS	HMEC	breast
15	chr1:212207400-212210600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:212207400-212210600	Active TSS	NHEK	skin
17	chr1:212207400-212210800	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr1:212207400-212210800	Active TSS	A549	lung
19	chr1:212207400-212211200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:212207600-212209800	Active TSS	Fetal Intestine Small	intestine
21	chr1:212207600-212209800	Active TSS	Psoas Muscle	Psoas
22	chr1:212207600-212209800	Active TSS	Stomach Smooth Muscle	stomach
23	chr1:212207600-212210200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:212207600-212210200	Active TSS	Muscle Satellite Cultured Cells	--
25	chr1:212207600-212210400	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr1:212207600-212210400	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr1:212207600-212210400	Active TSS	HSMM	muscle
28	chr1:212207600-212210400	Active TSS	NH-A	brain
29	chr1:212207600-212210600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr1:212207600-212210600	Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr1:212207600-212210600	Active TSS	NHDF-Ad	bronchial
32	chr1:212207600-212210800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr1:212207600-212210800	Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr1:212207600-212210800	Active TSS	Fetal Kidney	kidney
35	chr1:212207600-212210800	Active TSS	Fetal Muscle Leg	muscle
36	chr1:212207600-212211000	Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr1:212207600-212211400	Active TSS	H1 Cell Line	embryonic stem cell
38	chr1:212207600-212211400	Active TSS	iPS-18 Cell Line	embryonic stem cell
39	chr1:212207800-212209800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr1:212207800-212209800	Active TSS	Right Ventricle	heart
41	chr1:212207800-212209800	Active TSS	Stomach Mucosa	stomach
42	chr1:212207800-212210400	Active TSS	Fetal Muscle Trunk	muscle
43	chr1:212207800-212210600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr1:212207800-212210600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr1:212207800-212210600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr1:212207800-212210600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr1:212207800-212210600	Active TSS	Thymus	Thymus
48	chr1:212207800-212210800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr1:212207800-212211400	Active TSS	H9 Cell Line	embryonic stem cell
50	chr1:212208000-212209800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links