Variant report

Variant	rs16965666
Chromosome Location	chr17:38303547-38303548
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr17:38303420-38303570	GM12873	blood:	n/a	n/a
2	POLR2A	chr17:38303206-38303637	PFSK-1	brain:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:38301964..38305074-chr17:38307464..38309696,4	K562	blood:
2	chr17:38269477..38271026-chr17:38303126..38305486,2	MCF-7	breast:
3	chr17:38288588..38290508-chr17:38303480..38305638,2	MCF-7	breast:
4	chr17:38267549..38271045-chr17:38302108..38305053,4	MCF-7	breast:
5	chr17:38301832..38303776-chr17:38305318..38307003,2	K562	blood:
6	chr17:38296494..38299896-chr17:38301046..38306469,5	MCF-7	breast:
7	chr17:38294655..38298413-chr17:38301062..38304113,5	MCF-7	breast:
8	chr17:38225966..38228891-chr17:38302194..38303710,2	K562	blood:
9	chr17:38295531..38298791-chr17:38300358..38304538,9	K562	blood:

No data

Variant related genes	Relation type
ENSG00000221555	TF binding region
ENSG00000221555	Chromatin interaction
ENSG00000126351	Chromatin interaction
ENSG00000108349	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11078940	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs16965687	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs2280400	0.80[CHD][hapmap];0.85[JPT][hapmap]
rs2314338	0.89[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap]
rs28537537	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs3744806	0.83[CHB][hapmap];0.84[JPT][hapmap]
rs4077125	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs4566234	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs57234044	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6503539	0.88[CHB][hapmap];0.85[JPT][hapmap]
rs7211770	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7359537	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs7405635	0.83[CHB][hapmap];0.85[JPT][hapmap]
rs8066144	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs8073925	0.83[CHB][hapmap];0.85[JPT][hapmap]
rs8082192	0.85[JPT][hapmap]
rs9892946	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs9893520	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs9901109	0.83[CHB][hapmap];0.84[JPT][hapmap]
rs9904021	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs9907683	0.86[JPT][hapmap]
rs9908034	0.82[CHB][hapmap];0.89[JPT][hapmap]
rs9908257	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs9911690	0.87[ASN][1000 genomes]
rs9916460	0.83[CHB][hapmap];0.89[JPT][hapmap]
rs9916782	0.83[CHB][hapmap];0.90[JPT][hapmap]

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	nsv833444	chr17:38242823-38437280	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 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	chr17:38297400-38304800	Weak transcription	Pancreas	Pancrea
2	chr17:38297600-38304000	Weak transcription	Ovary	ovary
3	chr17:38297600-38304400	Weak transcription	Gastric	stomach
4	chr17:38297600-38306600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr17:38297600-38313400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr17:38297600-38318200	Weak transcription	Aorta	Aorta
7	chr17:38297600-38318200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr17:38297600-38325200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr17:38297800-38303600	Weak transcription	Psoas Muscle	Psoas
10	chr17:38297800-38305000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr17:38297800-38309400	Weak transcription	Right Ventricle	heart
12	chr17:38297800-38318400	Weak transcription	Stomach Mucosa	stomach
13	chr17:38297800-38333000	Strong transcription	Fetal Muscle Trunk	muscle
14	chr17:38297800-38336600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr17:38298000-38304800	Weak transcription	Colonic Mucosa	Colon
16	chr17:38298000-38310800	Strong transcription	H1 Cell Line	embryonic stem cell
17	chr17:38298000-38311800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr17:38298000-38324200	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr17:38298000-38330400	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr17:38298000-38330800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr17:38298200-38303800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr17:38298200-38306200	Weak transcription	Fetal Brain Male	brain
23	chr17:38298200-38306400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr17:38298200-38307400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr17:38298200-38307600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr17:38298200-38308400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr17:38298200-38313000	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr17:38298200-38313600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr17:38298200-38318000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr17:38298200-38318200	Weak transcription	Small Intestine	intestine
31	chr17:38298200-38324200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr17:38298200-38324400	Strong transcription	Fetal Stomach	stomach
33	chr17:38298200-38333000	Strong transcription	Fetal Thymus	thymus
34	chr17:38298400-38307000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr17:38298400-38324200	Weak transcription	Fetal Heart	heart
36	chr17:38298600-38303600	Weak transcription	K562	blood
37	chr17:38298600-38307000	Strong transcription	Brain Anterior Caudate	brain
38	chr17:38298600-38309400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr17:38298600-38310600	Strong transcription	Lung	lung
40	chr17:38298600-38316400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr17:38298600-38319600	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr17:38298600-38332200	Strong transcription	Fetal Intestine Small	intestine
43	chr17:38298800-38303600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr17:38298800-38303800	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr17:38298800-38306400	Weak transcription	NHLF	lung
46	chr17:38298800-38313200	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr17:38298800-38314000	Strong transcription	Fetal Muscle Leg	muscle
48	chr17:38299200-38319600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr17:38299600-38303600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr17:38299600-38303600	Strong transcription	Primary T cells fromperipheralblood	blood

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