Variant report

Variant	rs3816471
Chromosome Location	chr17:38140524-38140525
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:38140511-38141321	K562	blood:	n/a	n/a
2	POLR2A	chr17:38140458-38141255	GM12891	blood:	n/a	n/a
3	POLR2A	chr17:38140342-38141747	SK-N-MC	brain:	n/a	n/a
4	POLR2A	chr17:38140460-38141267	K562	blood:	n/a	n/a
5	POLR2A	chr17:38140394-38142008	K562	blood:	n/a	n/a
6	POLR2A	chr17:38140390-38141753	PFSK-1	brain:	n/a	n/a
7	POLR2A	chr17:38140494-38141440	GM12878	blood:	n/a	n/a
8	POLR2A	chr17:38140459-38141456	GM12892	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr17:38136187..38139299-chr17:38140015..38144342,5	K562	blood:
2	chr17:38139958..38142841-chr17:38144945..38147813,2	MCF-7	breast:
3	chr17:38139548..38141921-chr17:38833362..38835168,2	K562	blood:
4	chr17:38137253..38140627-chr17:38150200..38152697,4	MCF-7	breast:
5	chr17:38138604..38140537-chr17:38144740..38146417,2	K562	blood:
6	chr17:38081395..38083587-chr17:38139253..38141219,2	K562	blood:
7	chr17:38140110..38141671-chr17:38147134..38149344,2	K562	blood:
8	chr17:38139951..38141671-chr17:38146998..38149344,2	K562	blood:
9	chr17:38135505..38137340-chr17:38139696..38141236,2	MCF-7	breast:

No data

Variant related genes	Relation type
PSMD3	TF binding region
ENSG00000172057	Chromatin interaction
ENSG00000108344	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10852937	0.82[ASN][1000 genomes]
rs12938879	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3826330	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3859190	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3916061	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4795411	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4795421	0.83[ASN][1000 genomes]
rs8068253	0.85[ASN][1000 genomes]
rs921651	0.86[ASN][1000 genomes]
rs9748108	0.86[ASN][1000 genomes]
rs9900199	0.89[ASN][1000 genomes]
rs9903987	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9905305	0.88[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	nsv492308	chr17:38033039-38204458	Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38137800-38140600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr17:38138200-38140600	Weak transcription	Aorta	Aorta
3	chr17:38138400-38140600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr17:38138400-38140600	Weak transcription	Left Ventricle	heart
5	chr17:38138400-38140600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr17:38138600-38140600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr17:38138600-38140600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr17:38138600-38140600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr17:38138600-38140600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr17:38138600-38140600	Weak transcription	Colonic Mucosa	Colon
11	chr17:38138600-38140600	Weak transcription	Gastric	stomach
12	chr17:38138600-38140600	Weak transcription	Small Intestine	intestine
13	chr17:38138600-38140800	Weak transcription	Fetal Brain Male	brain
14	chr17:38138600-38149200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr17:38138600-38154200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr17:38138800-38140600	Weak transcription	Stomach Mucosa	stomach
17	chr17:38139000-38140600	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr17:38139000-38140600	Weak transcription	Brain Anterior Caudate	brain
19	chr17:38139000-38140600	Weak transcription	Fetal Brain Female	brain
20	chr17:38139000-38140600	Weak transcription	HSMMtube	muscle
21	chr17:38139000-38140600	Weak transcription	NH-A	brain
22	chr17:38139000-38144400	Weak transcription	Fetal Heart	heart
23	chr17:38139200-38140600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr17:38139200-38140600	Weak transcription	Primary T cells from cord blood	blood
25	chr17:38139200-38140600	Weak transcription	Primary hematopoietic stem cells	blood
26	chr17:38139200-38140600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr17:38139200-38140600	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr17:38139200-38140600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr17:38139200-38140600	Weak transcription	Brain Angular Gyrus	brain
30	chr17:38139200-38140600	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr17:38139200-38140600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr17:38139200-38140600	Weak transcription	Brain Substantia Nigra	brain
33	chr17:38139200-38140600	Weak transcription	Fetal Kidney	kidney
34	chr17:38139200-38140600	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr17:38139200-38140600	Weak transcription	Hela-S3	cervix
36	chr17:38139200-38140600	Weak transcription	NHDF-Ad	bronchial
37	chr17:38139200-38140600	Weak transcription	NHLF	lung
38	chr17:38139200-38151400	Strong transcription	NHEK	skin
39	chr17:38139200-38154800	Strong transcription	Fetal Intestine Small	intestine
40	chr17:38139400-38140600	Weak transcription	Primary B cells from cord blood	blood
41	chr17:38139400-38140600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr17:38139400-38140600	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr17:38139400-38141200	Genic enhancers	Dnd41	blood
44	chr17:38139400-38152200	Strong transcription	K562	blood
45	chr17:38139400-38154400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr17:38139400-38155000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr17:38139600-38140600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr17:38139600-38140600	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr17:38139600-38140600	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr17:38139600-38151200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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