Variant report

Variant	rs11654187
Chromosome Location	chr17:66434089-66434090
allele	A/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	NFIC	chr17:66434019-66434544	HepG2	liver:	n/a	n/a
2	TEAD4	chr17:66433868-66434553	HepG2	liver:	n/a	n/a
3	FOXA1	chr17:66433704-66434552	HepG2	liver:	n/a	n/a
4	GATA1	chr17:66433429-66434694	PBDE	blood:	n/a	chr17:66434311-66434327 chr17:66434271-66434281
5	KAP1	chr17:66433640-66434753	K562	blood:	n/a	n/a
6	ZNF384	chr17:66433521-66434476	K562	blood:	n/a	n/a
7	TBL1XR1	chr17:66433578-66434516	K562	blood:	n/a	n/a
8	NR2F2	chr17:66434065-66434661	K562	blood:	n/a	n/a
9	POLR2A	chr17:66434026-66434665	GM12892	blood:	n/a	n/a
10	ZNF384	chr17:66433655-66434321	GM12878	blood:	n/a	n/a
11	RCOR1	chr17:66433540-66434582	K562	blood:	n/a	n/a
12	MTA3	chr17:66434056-66434754	GM12878	blood:	n/a	n/a
13	MYBL2	chr17:66434027-66434683	HepG2	liver:	n/a	n/a
14	TAL1	chr17:66433625-66434514	K562	blood:	n/a	n/a
15	SPI1	chr17:66434056-66434608	GM12878	blood:	n/a	n/a
16	EP300	chr17:66433629-66434631	K562	blood:	n/a	chr17:66434269-66434283 chr17:66434273-66434282 chr17:66434239-66434249 chr17:66433882-66433892 chr17:66433769-66433778
17	MBD4	chr17:66434015-66434746	HepG2	liver:	n/a	n/a
18	IRF1	chr17:66434041-66434603	K562	blood:	n/a	chr17:66434232-66434249 chr17:66434225-66434245 chr17:66434233-66434247 chr17:66434234-66434245 chr17:66434229-66434243
19	MYC	chr17:66433672-66434692	K562	blood:	n/a	n/a
20	IRF1	chr17:66433682-66434585	K562	blood:	n/a	chr17:66434232-66434249 chr17:66434225-66434245 chr17:66434233-66434247 chr17:66434234-66434245 chr17:66434229-66434243
21	TEAD4	chr17:66434055-66434598	K562	blood:	n/a	n/a
22	MYBL2	chr17:66434013-66434731	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:66242560..66245930-chr17:66432337..66436267,7	MCF-7	breast:
2	chr17:66431094..66434502-chr17:66448971..66451470,3	MCF-7	breast:
3	chr17:66286299..66290186-chr17:66430905..66434232,9	MCF-7	breast:
4	chr17:66432226..66434123-chr17:66440350..66443035,2	MCF-7	breast:
5	chr17:66432225..66434282-chr17:66453087..66455277,3	MCF-7	breast:
6	chr17:66392741..66399172-chr17:66430612..66434702,5	MCF-7	breast:
7	chr17:66432081..66434622-chr17:66452871..66454656,2	MCF-7	breast:
8	chr17:66242460..66245252-chr17:66433902..66436004,3	K562	blood:
9	chr17:66286133..66290612-chr17:66424686..66436118,23	MCF-7	breast:
10	chr17:66418699..66423182-chr17:66432036..66435386,4	MCF-7	breast:
11	chr17:66426481..66429441-chr17:66430953..66434453,4	K562	blood:

Variant related genes	Relation type
WIPI1	TF binding region
ENSG00000070540	Chromatin interaction
ENSG00000265100	Chromatin interaction
ENSG00000196704	Chromatin interaction
ENSG00000207561	Chromatin interaction
ENSG00000141337	Chromatin interaction
ENSG00000108932	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10153240	0.83[EUR][1000 genomes]
rs883622	0.88[AMR][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	nsv833523	chr17:66343323-66510461	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66410400-66452400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr17:66420800-66446400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr17:66420800-66451800	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr17:66425400-66451600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr17:66425400-66452000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr17:66426000-66445400	Weak transcription	Brain Germinal Matrix	brain
7	chr17:66429600-66439600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr17:66429800-66444200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr17:66430800-66444200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr17:66431000-66437000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr17:66431800-66434800	Enhancers	Fetal Thymus	thymus
12	chr17:66432000-66434200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr17:66432000-66434200	Genic enhancers	Left Ventricle	heart
14	chr17:66432000-66434600	Enhancers	Thymus	Thymus
15	chr17:66432000-66434800	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr17:66432000-66434800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr17:66432000-66434800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr17:66432000-66435000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr17:66432000-66435200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr17:66432000-66435200	Enhancers	Fetal Heart	heart
21	chr17:66432000-66440400	Weak transcription	Brain Anterior Caudate	brain
22	chr17:66432000-66442200	Weak transcription	Colon Smooth Muscle	Colon
23	chr17:66432200-66434400	Weak transcription	Colonic Mucosa	Colon
24	chr17:66432200-66434800	Enhancers	Primary B cells from peripheral blood	blood
25	chr17:66432200-66435200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr17:66432200-66435800	Weak transcription	Brain Angular Gyrus	brain
27	chr17:66432200-66437000	Weak transcription	Ovary	ovary
28	chr17:66432200-66439000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr17:66432200-66452400	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr17:66432400-66434200	Enhancers	Adipose Nuclei	Adipose
31	chr17:66432400-66434200	Weak transcription	Spleen	Spleen
32	chr17:66432400-66434800	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr17:66432400-66435200	Enhancers	Psoas Muscle	Psoas
34	chr17:66432400-66437000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr17:66432400-66438600	Weak transcription	Lung	lung
36	chr17:66432400-66446400	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr17:66432600-66434200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr17:66432600-66434200	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr17:66432600-66434200	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr17:66432600-66434200	Enhancers	Fetal Intestine Small	intestine
41	chr17:66432600-66434200	Weak transcription	Pancreas	Pancrea
42	chr17:66432600-66434400	Weak transcription	Esophagus	oesophagus
43	chr17:66432600-66434400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr17:66432600-66434400	Weak transcription	NH-A	brain
45	chr17:66432600-66434600	Enhancers	Fetal Muscle Leg	muscle
46	chr17:66432600-66434800	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr17:66432600-66435200	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr17:66432600-66436200	Weak transcription	Brain Substantia Nigra	brain
49	chr17:66432600-66436800	Weak transcription	HSMM	muscle
50	chr17:66432600-66437000	Weak transcription	Fetal Stomach	stomach

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