Variant report

Variant	rs11867297
Chromosome Location	chr17:66433493-66433494
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr17:66433429-66434694	PBDE	blood:	n/a	chr17:66434311-66434327 chr17:66434271-66434281

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:181057811..181059392-chr17:66430870..66433841,2	MCF-7	breast:
2	chr17:66242560..66245930-chr17:66432337..66436267,7	MCF-7	breast:
3	chr17:66431094..66434502-chr17:66448971..66451470,3	MCF-7	breast:
4	chr17:66286299..66290186-chr17:66430905..66434232,9	MCF-7	breast:
5	chr17:66432226..66434123-chr17:66440350..66443035,2	MCF-7	breast:
6	chr17:66430844..66433732-chr17:66435653..66437723,2	K562	blood:
7	chr17:66432225..66434282-chr17:66453087..66455277,3	MCF-7	breast:
8	chr17:66392741..66399172-chr17:66430612..66434702,5	MCF-7	breast:
9	chr17:66431465..66433732-chr17:66435653..66437245,2	K562	blood:
10	chr17:66432081..66434622-chr17:66452871..66454656,2	MCF-7	breast:
11	chr17:66426889..66428874-chr17:66430953..66433793,2	K562	blood:
12	chr17:66286133..66290612-chr17:66424686..66436118,23	MCF-7	breast:
13	chr17:66418699..66423182-chr17:66432036..66435386,4	MCF-7	breast:
14	chr17:66430901..66433765-chr17:66455627..66457195,2	K562	blood:
15	chr17:66426481..66429441-chr17:66430953..66434453,4	K562	blood:

No data

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

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1030098	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11656906	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12940626	0.83[EUR][1000 genomes]
rs1808333	0.85[ASN][1000 genomes]
rs2287301	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2361954	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs883620	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs918167	0.86[EUR][1000 genomes];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	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	chr17:66415800-66433600	Weak transcription	Small Intestine	intestine
3	chr17:66420800-66446400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr17:66420800-66451800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr17:66425400-66433800	Weak transcription	Fetal Kidney	kidney
6	chr17:66425400-66451600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr17:66425400-66452000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr17:66426000-66445400	Weak transcription	Brain Germinal Matrix	brain
9	chr17:66426600-66433800	Weak transcription	Fetal Lung	lung
10	chr17:66429600-66439600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr17:66429800-66444200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr17:66430800-66444200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr17:66431000-66433800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr17:66431000-66437000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr17:66431400-66434000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr17:66431800-66433600	Weak transcription	Fetal Intestine Large	intestine
17	chr17:66431800-66434800	Enhancers	Fetal Thymus	thymus
18	chr17:66432000-66433600	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr17:66432000-66433600	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr17:66432000-66433600	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr17:66432000-66433800	Enhancers	Primary T cells fromperipheralblood	blood
22	chr17:66432000-66434200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr17:66432000-66434200	Genic enhancers	Left Ventricle	heart
24	chr17:66432000-66434600	Enhancers	Thymus	Thymus
25	chr17:66432000-66434800	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr17:66432000-66434800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr17:66432000-66434800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr17:66432000-66435000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr17:66432000-66435200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr17:66432000-66435200	Enhancers	Fetal Heart	heart
31	chr17:66432000-66440400	Weak transcription	Brain Anterior Caudate	brain
32	chr17:66432000-66442200	Weak transcription	Colon Smooth Muscle	Colon
33	chr17:66432200-66433600	Enhancers	Primary B cells from cord blood	blood
34	chr17:66432200-66433600	Enhancers	Primary T cells from cord blood	blood
35	chr17:66432200-66433600	Enhancers	Primary hematopoietic stem cells	blood
36	chr17:66432200-66433600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr17:66432200-66433600	Genic enhancers	Placenta	Placenta
38	chr17:66432200-66433600	Enhancers	GM12878-XiMat	blood
39	chr17:66432200-66433800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr17:66432200-66433800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr17:66432200-66434000	Enhancers	Liver	Liver
42	chr17:66432200-66434400	Weak transcription	Colonic Mucosa	Colon
43	chr17:66432200-66434800	Enhancers	Primary B cells from peripheral blood	blood
44	chr17:66432200-66435200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr17:66432200-66435800	Weak transcription	Brain Angular Gyrus	brain
46	chr17:66432200-66437000	Weak transcription	Ovary	ovary
47	chr17:66432200-66439000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr17:66432200-66452400	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr17:66432400-66433600	Enhancers	Brain Hippocampus Middle	brain
50	chr17:66432400-66433800	Enhancers	Primary monocytes fromperipheralblood	blood

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