Variant report

Variant	rs17154006
Chromosome Location	chr10:44102290-44102291
allele	C/T
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	chr10:44101688-44102327	A549	lung:	n/a	n/a
2	MYC	chr10:44101608-44102934	K562	blood:	n/a	n/a
3	MYC	chr10:44101601-44102965	K562	blood:	n/a	n/a
4	GABPA	chr10:44101438-44102371	SK-N-SH	brain:	n/a	chr10:44101858-44101865 chr10:44102360-44102369
5	SPI1	chr10:44102131-44102581	GM12891	blood:	n/a	chr10:44102414-44102427 chr10:44102293-44102306
6	CBX3	chr10:44101381-44102293	K562	blood:	n/a	n/a
7	GABPA	chr10:44101407-44102315	HL-60	blood:	n/a	chr10:44101858-44101865
8	POLR2A	chr10:44101655-44102423	SK-N-SH	brain:	n/a	n/a
9	EBF1	chr10:44101768-44102299	GM12878	blood:	n/a	n/a
10	HEY1	chr10:44101693-44102663	K562	blood:	n/a	n/a
11	ELF1	chr10:44101504-44102338	GM12878	blood:	n/a	chr10:44101856-44101865 chr10:44101854-44101867 chr10:44101842-44101854
12	SPI1	chr10:44102207-44102560	GM12878	blood:	n/a	chr10:44102414-44102427 chr10:44102293-44102306
13	POLR2A	chr10:44101717-44102315	H1-hESC	embryonic stem cell:	n/a	n/a
14	HEY1	chr10:44101740-44102906	K562	blood:	n/a	n/a
15	MAX	chr10:44101602-44102715	A549	lung:	n/a	n/a
16	E2F6	chr10:44101444-44103059	K562	blood:	n/a	chr10:44102360-44102369
17	POLR2A	chr10:44101716-44102773	GM12892	blood:	n/a	n/a
18	POLR2A	chr10:44101671-44102580	GM19193	blood:	n/a	n/a
19	MAX	chr10:44101724-44102519	A549	lung:	n/a	n/a
20	IRF1	chr10:44101651-44102329	K562	blood:	n/a	chr10:44102296-44102310 chr10:44102292-44102312 chr10:44101745-44101757 chr10:44101733-44101742
21	HCFC1	chr10:44101525-44103004	K562	blood:	n/a	n/a
22	MAZ	chr10:44101566-44102431	K562	blood:	n/a	n/a
23	GABPA	chr10:44101503-44102361	GM12878	blood:	n/a	chr10:44101858-44101865
24	POLR2A	chr10:44101715-44104132	K562	blood:	n/a	n/a
25	ZEB1	chr10:44102163-44102396	GM12878	blood:	n/a	chr10:44102320-44102329
26	MAX	chr10:44101644-44102413	Hela-S3	cervix:	n/a	n/a
27	SMC3	chr10:44102289-44102458	Hela-S3	cervix:	n/a	n/a
28	E2F6	chr10:44101650-44102509	H1-hESC	embryonic stem cell:	n/a	chr10:44102360-44102369
29	MAX	chr10:44101537-44102301	HCT-116	colon:	n/a	n/a
30	GABPA	chr10:44101262-44102755	MCF-7	breast:	n/a	chr10:44101858-44101865 chr10:44102360-44102369
31	GATA2	chr10:44101220-44102401	SH-SY5Y	brain:	n/a	n/a
32	CEBPB	chr10:44102201-44102382	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr10:44101675-44102948	K562	blood:	n/a	n/a
34	HMGN3	chr10:44101739-44102449	K562	blood:	n/a	n/a
35	SIN3A	chr10:44101557-44102644	H1-hESC	embryonic stem cell:	n/a	n/a
36	MAX	chr10:44101564-44102485	HepG2	liver:	n/a	n/a
37	MYC	chr10:44101610-44103070	K562	blood:	n/a	n/a
38	POLR2A	chr10:44101708-44103382	K562	blood:	n/a	n/a
39	SIN3AK20	chr10:44101598-44102294	PANC-1	pancreas:	n/a	n/a
40	MAX	chr10:44101659-44102747	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr10:44101458-44102802	K562	blood:	n/a	n/a
42	CTCF	chr10:44102140-44102290	HUVEC	blood vessel:	n/a	n/a
43	GABPA	chr10:44101470-44102302	SK-N-SH	brain:	n/a	chr10:44101858-44101865
44	GATA3	chr10:44102088-44102380	T-47D	breast:	n/a	n/a
45	ZBTB7A	chr10:44101571-44102394	ECC-1	luminal epithelium:	n/a	n/a
46	SPI1	chr10:44102234-44102530	K562	blood:	n/a	chr10:44102414-44102427 chr10:44102293-44102306
47	MYC	chr10:44101540-44102769	K562	blood:	n/a	n/a
48	POLR2A	chr10:44101733-44102307	SK-N-MC	brain:	n/a	n/a
49	MXI1	chr10:44101630-44102687	GM12878	blood:	n/a	n/a
50	POLR2A	chr10:44101605-44102403	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:44100612..44103408-chr10:44143126..44145241,3	MCF-7	breast:
2	chr10:44101948..44103736-chr10:44112842..44114358,2	MCF-7	breast:
3	chr10:44068620..44071892-chr10:44099602..44104778,6	MCF-7	breast:
4	chr10:43902834..43905281-chr10:44101183..44103050,2	MCF-7	breast:
5	chr10:43891174..43892847-chr10:44101479..44103589,2	K562	blood:
6	chr10:44100401..44102576-chr10:44125762..44128541,3	MCF-7	breast:
7	chr10:44101689..44104570-chr10:44142385..44144867,2	K562	blood:
8	chr10:43901770..43904893-chr10:44100789..44103373,5	MCF-7	breast:

Variant related genes	Relation type
CAP1P2	TF binding region
ENSG00000238263	Chromatin interaction
ENSG00000237389	Chromatin interaction
ENSG00000169740	Chromatin interaction
ENSG00000196793	Chromatin interaction
ENSG00000169813	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10899858	1.00[ASN][1000 genomes]
rs10899859	1.00[ASN][1000 genomes]
rs10899881	1.00[ASN][1000 genomes]
rs10899885	1.00[ASN][1000 genomes]
rs11238547	1.00[ASN][1000 genomes]
rs11238570	1.00[ASN][1000 genomes]
rs11238591	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11238596	0.81[YRI][hapmap]
rs11238605	1.00[ASN][1000 genomes]
rs11238628	1.00[ASN][1000 genomes]
rs11238635	1.00[ASN][1000 genomes]
rs11238638	1.00[ASN][1000 genomes]
rs11238645	1.00[ASN][1000 genomes]
rs11238647	1.00[ASN][1000 genomes]
rs11238673	1.00[ASN][1000 genomes]
rs11238674	1.00[ASN][1000 genomes]
rs11238675	1.00[ASN][1000 genomes]
rs11238677	1.00[ASN][1000 genomes]
rs11238678	1.00[ASN][1000 genomes]
rs11238679	1.00[ASN][1000 genomes]
rs11238689	1.00[ASN][1000 genomes]
rs11238695	1.00[ASN][1000 genomes]
rs11238704	1.00[ASN][1000 genomes]
rs11591525	1.00[ASN][1000 genomes]
rs11592645	1.00[ASN][1000 genomes]
rs11598020	1.00[ASN][1000 genomes]
rs12263722	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12356024	1.00[ASN][1000 genomes]
rs12356570	1.00[ASN][1000 genomes]
rs12358200	1.00[ASN][1000 genomes]
rs12359520	1.00[ASN][1000 genomes]
rs12359825	1.00[ASN][1000 genomes]
rs12359980	1.00[ASN][1000 genomes]
rs17154012	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17154020	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17447133	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17447468	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17447580	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34966945	1.00[ASN][1000 genomes]
rs41313824	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4646975	1.00[ASN][1000 genomes]
rs57740712	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59220072	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60163354	1.00[ASN][1000 genomes]
rs61858993	1.00[ASN][1000 genomes]
rs61858995	1.00[ASN][1000 genomes]
rs61859001	1.00[ASN][1000 genomes]
rs61859177	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61859178	1.00[ASN][1000 genomes]
rs61859179	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61859180	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61859181	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61859182	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61859185	1.00[ASN][1000 genomes]
rs61859203	1.00[ASN][1000 genomes]
rs61859204	1.00[ASN][1000 genomes]
rs61859207	1.00[ASN][1000 genomes]
rs61859221	1.00[ASN][1000 genomes]
rs61859998	1.00[ASN][1000 genomes]
rs61860007	1.00[ASN][1000 genomes]
rs61861561	1.00[ASN][1000 genomes]
rs61861563	1.00[ASN][1000 genomes]
rs61861566	1.00[ASN][1000 genomes]
rs61861567	1.00[ASN][1000 genomes]
rs7073767	1.00[ASN][1000 genomes]
rs7093434	1.00[ASN][1000 genomes]
rs7096121	0.82[YRI][hapmap]
rs7100846	1.00[ASN][1000 genomes]
rs7900073	0.82[YRI][hapmap]
rs7903467	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7903833	1.00[ASN][1000 genomes]
rs7905073	1.00[ASN][1000 genomes]
rs7906484	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7913352	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7916345	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7920408	1.00[ASN][1000 genomes]

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	nsv947897	chr10:44098895-44102321	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr10:44101200-44102600	Active TSS	Brain Cingulate Gyrus	brain
2	chr10:44101200-44102600	Active TSS	Colon Smooth Muscle	Colon
3	chr10:44101200-44102800	Enhancers	Fetal Heart	heart
4	chr10:44101200-44103000	Active TSS	Brain Angular Gyrus	brain
5	chr10:44101400-44102400	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr10:44101400-44102400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
7	chr10:44101400-44102400	Active TSS	Brain Substantia Nigra	brain
8	chr10:44101400-44102400	Active TSS	Colonic Mucosa	Colon
9	chr10:44101400-44102400	Active TSS	Duodenum Mucosa	Duodenum
10	chr10:44101400-44102400	Active TSS	Fetal Brain Female	brain
11	chr10:44101400-44102400	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr10:44101400-44102400	Active TSS	Hela-S3	cervix
13	chr10:44101400-44102400	Active TSS	Osteobl	bone
14	chr10:44101400-44102600	Active TSS	Rectal Smooth Muscle	rectum
15	chr10:44101400-44103000	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr10:44101400-44103000	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr10:44101400-44103000	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr10:44101600-44102400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr10:44101600-44102400	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr10:44101600-44102400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr10:44101600-44102400	Active TSS	Aorta	Aorta
22	chr10:44101600-44102400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr10:44101600-44102400	Active TSS	Fetal Intestine Large	intestine
24	chr10:44101600-44102400	Active TSS	Fetal Lung	lung
25	chr10:44101600-44102400	Active TSS	Fetal Thymus	thymus
26	chr10:44101600-44102600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr10:44101600-44102600	Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr10:44101600-44102600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
29	chr10:44101600-44102600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
30	chr10:44101600-44102600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr10:44101600-44102600	Active TSS	Lung	lung
32	chr10:44101600-44102600	Active TSS	Right Atrium	heart
33	chr10:44101600-44102600	Active TSS	NHEK	skin
34	chr10:44101600-44102800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr10:44101600-44102800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr10:44101600-44102800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
37	chr10:44101600-44102800	Flanking Active TSS	Primary hematopoietic stem cells	blood
38	chr10:44101600-44102800	Active TSS	Fetal Kidney	kidney
39	chr10:44101600-44102800	Flanking Active TSS	HMEC	breast
40	chr10:44101600-44102800	Active TSS	HSMM	muscle
41	chr10:44101600-44102800	Active TSS	HSMMtube	muscle
42	chr10:44101600-44102800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr10:44101600-44103000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr10:44101600-44103000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr10:44101600-44103000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr10:44101600-44103000	Active TSS	Psoas Muscle	Psoas
47	chr10:44101600-44103000	Active TSS	Rectal Mucosa Donor 31	rectum
48	chr10:44101800-44102400	Active TSS	H1 Cell Line	embryonic stem cell
49	chr10:44101800-44102400	Active TSS	H9 Cell Line	embryonic stem cell
50	chr10:44101800-44102400	Active TSS	HUES6 Cell Line	embryonic stem cell

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