Variant report

Variant	rs61554907
Chromosome Location	chr17:38220432-38220433
allele	G/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	MYC	chr17:38220222-38220827	K562	blood:	n/a	chr17:38220648-38220659
2	MAX	chr17:38219135-38220824	NB4	blood:	n/a	chr17:38220648-38220659
3	PML	chr17:38220139-38220587	GM12878	blood:	n/a	n/a
4	SIN3AK20	chr17:38220386-38221055	A549	lung:	n/a	n/a
5	BCL3	chr17:38220275-38220910	GM12878	blood:	n/a	n/a
6	MAX	chr17:38220334-38220505	Hela-S3	cervix:	n/a	n/a
7	NFATC1	chr17:38220284-38220918	GM12878	blood:	n/a	n/a
8	POLR2A	chr17:38219217-38220499	K562	blood:	n/a	n/a
9	MAFK	chr17:38220361-38220528	K562	blood:	n/a	n/a
10	POU2F2	chr17:38220283-38220741	GM12891	blood:	n/a	n/a
11	BCL3	chr17:38220290-38220803	GM12878	blood:	n/a	n/a
12	STAT5A	chr17:38220348-38220839	GM12878	blood:	n/a	chr17:38220533-38220545
13	SIN3AK20	chr17:38220253-38220471	HepG2	liver:	n/a	n/a
14	MAX	chr17:38218874-38220827	HepG2	liver:	n/a	chr17:38220648-38220659
15	POLR2A	chr17:38220168-38220585	HepG2	liver:	n/a	n/a
16	MYC	chr17:38220408-38220823	K562	blood:	n/a	chr17:38220648-38220659
17	SMARCB1	chr17:38219400-38220600	Hela-S3	cervix:	n/a	n/a
18	RCOR1	chr17:38220334-38220476	HepG2	liver:	n/a	n/a
19	NFATC1	chr17:38220376-38220893	GM12878	blood:	n/a	n/a
20	MXI1	chr17:38218480-38222365	SK-N-SH	brain:	n/a	n/a
21	EBF1	chr17:38220414-38220598	GM12878	blood:	n/a	n/a
22	POLR2A	chr17:38219109-38220813	HL-60	blood:	n/a	n/a
23	TCF3	chr17:38220354-38220818	GM12878	blood:	n/a	n/a
24	SIN3AK20	chr17:38220229-38220791	K562	blood:	n/a	n/a
25	POLR2A	chr17:38220176-38220947	H1-neurons	neurons:	n/a	n/a
26	CCNT2	chr17:38220429-38220763	K562	blood:	n/a	n/a
27	MXI1	chr17:38220257-38220728	HepG2	liver:	n/a	n/a
28	MAX	chr17:38220291-38220786	K562	blood:	n/a	chr17:38220648-38220659
29	POLR2A	chr17:38218951-38220989	H1-neurons	neurons:	n/a	n/a
30	MAX	chr17:38219045-38221225	K562	blood:	n/a	chr17:38220648-38220659 chr17:38221075-38221085
31	PBX3	chr17:38220341-38220797	GM12878	blood:	n/a	chr17:38220705-38220714 chr17:38220633-38220642
32	MXI1	chr17:38218887-38222666	IMR90	lung:	n/a	n/a
33	BHLHE40	chr17:38220307-38220853	K562	blood:	n/a	chr17:38220406-38220422
34	TCF12	chr17:38218605-38222154	A549	lung:	n/a	chr17:38221945-38221952
35	MXI1	chr17:38220297-38220811	K562	blood:	n/a	n/a
36	POLR2A	chr17:38220180-38220850	GM12892	blood:	n/a	n/a
37	MAX	chr17:38220289-38220778	HepG2	liver:	n/a	chr17:38220648-38220659

No.	Distal block	Cell Line	Cell type
1	chr17:38218404..38220452-chr17:38276626..38279762,4	K562	blood:
2	chr17:38218404..38220452-chr17:38276626..38279762,3	K562	blood:
3	chr17:38219115..38220777-chr17:38255846..38258790,2	MCF-7	breast:
4	chr17:38219039..38222172-chr17:38223812..38229284,8	MCF-7	breast:
5	chr17:38220009..38224777-chr17:38226169..38228893,5	MCF-7	breast:
6	chr17:32201562..32204443-chr17:38220191..38222561,2	K562	blood:
7	chr17:38210481..38212413-chr17:38218576..38220480,2	MCF-7	breast:
8	chr17:38219845..38222489-chr17:38296563..38298263,2	MCF-7	breast:
9	chr17:38219532..38222317-chr17:38232085..38234272,2	MCF-7	breast:

Variant related genes	Relation type
THRA	TF binding region
MED24	TF binding region
ENSG00000188895	Chromatin interaction
ENSG00000108349	Chromatin interaction
ENSG00000126368	Chromatin interaction
ENSG00000008838	Chromatin interaction
ENSG00000126351	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs34867153	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72834798	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv908221	chr17:38216522-38289003	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	esv3393448	chr17:38218451-38220999	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38218400-38220800	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr17:38218600-38221000	Active TSS	Aorta	Aorta
3	chr17:38218600-38222200	Active TSS	Ovary	ovary
4	chr17:38219400-38220600	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr17:38219400-38220600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr17:38219400-38220600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
7	chr17:38219400-38220600	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
8	chr17:38219400-38221000	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr17:38219600-38220600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
10	chr17:38219600-38221000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
11	chr17:38219600-38221800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
12	chr17:38219800-38220600	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr17:38219800-38220600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr17:38219800-38220600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
15	chr17:38219800-38220600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
16	chr17:38219800-38220600	Flanking Active TSS	Esophagus	oesophagus
17	chr17:38219800-38220600	Flanking Active TSS	Placenta	Placenta
18	chr17:38219800-38220600	Flanking Active TSS	Fetal Thymus	thymus
19	chr17:38219800-38220800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
20	chr17:38219800-38220800	Flanking Active TSS	Liver	Liver
21	chr17:38219800-38221000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr17:38219800-38221200	Flanking Active TSS	Dnd41	blood
23	chr17:38219800-38221400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr17:38219800-38221400	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
25	chr17:38219800-38221600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
26	chr17:38219800-38221800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr17:38219800-38221800	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr17:38219800-38221800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
29	chr17:38219800-38221800	Flanking Active TSS	Fetal Muscle Trunk	muscle
30	chr17:38219800-38221800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
31	chr17:38219800-38221800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr17:38219800-38221800	Flanking Active TSS	NH-A	brain
33	chr17:38219800-38222000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr17:38219800-38222000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr17:38219800-38222000	Flanking Active TSS	Colonic Mucosa	Colon
36	chr17:38219800-38222000	Flanking Active TSS	A549	lung
37	chr17:38219800-38222200	Flanking Active TSS	HSMM	muscle
38	chr17:38219800-38222400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr17:38219800-38222400	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
40	chr17:38219800-38222600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr17:38220000-38220600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr17:38220000-38220600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr17:38220000-38220600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
44	chr17:38220000-38220600	Flanking Active TSS	Pancreas	Pancrea
45	chr17:38220000-38220600	Bivalent Enhancer	GM12878-XiMat	blood
46	chr17:38220000-38220800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
47	chr17:38220000-38220800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr17:38220000-38220800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr17:38220000-38220800	Flanking Active TSS	Lung	lung
50	chr17:38220000-38220800	Flanking Active TSS	HMEC	breast

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