Variant report

Variant	rs8068498
Chromosome Location	chr17:38142121-38142122
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	POLR2A	chr17:38142098-38142124	K562	blood:	n/a	n/a

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	chr17:38142013..38147565-chr17:38148653..38154078,9	K562	blood:

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

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11652972	0.80[AFR][1000 genomes]
rs11655821	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs12941675	0.90[AFR][1000 genomes]
rs2227318	0.94[AFR][1000 genomes]
rs34029479	0.90[AFR][1000 genomes]
rs34616965	0.94[AFR][1000 genomes]
rs34622957	0.90[AFR][1000 genomes]
rs36026011	0.83[AFR][1000 genomes]
rs71371403	0.94[AFR][1000 genomes]
rs71371404	0.80[AFR][1000 genomes]
rs71371407	0.81[AFR][1000 genomes]
rs7211771	0.94[AFR][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	chr17:38138600-38149200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr17:38138600-38154200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr17:38139000-38144400	Weak transcription	Fetal Heart	heart
4	chr17:38139200-38151400	Strong transcription	NHEK	skin
5	chr17:38139200-38154800	Strong transcription	Fetal Intestine Small	intestine
6	chr17:38139400-38152200	Strong transcription	K562	blood
7	chr17:38139400-38154400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr17:38139400-38155000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr17:38139600-38151200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr17:38139600-38153600	Strong transcription	HUVEC	blood vessel
11	chr17:38139600-38154400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr17:38139600-38154600	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr17:38139600-38154800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr17:38139600-38155000	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr17:38139600-38155200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr17:38139600-38155400	Strong transcription	Placenta	Placenta
17	chr17:38139600-38155600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr17:38139600-38155600	Strong transcription	Fetal Thymus	thymus
19	chr17:38139800-38153800	Strong transcription	Osteobl	bone
20	chr17:38139800-38154400	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr17:38139800-38154400	Strong transcription	HMEC	breast
22	chr17:38139800-38154600	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr17:38139800-38154600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr17:38139800-38154800	Strong transcription	Primary B cells from peripheral blood	blood
25	chr17:38139800-38155000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr17:38139800-38155000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr17:38139800-38155000	Strong transcription	A549	lung
28	chr17:38139800-38155600	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr17:38140000-38148800	Strong transcription	Liver	Liver
30	chr17:38140000-38150400	Strong transcription	Fetal Muscle Trunk	muscle
31	chr17:38140000-38150400	Strong transcription	Fetal Muscle Leg	muscle
32	chr17:38140000-38151200	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr17:38140000-38152400	Strong transcription	Adipose Nuclei	Adipose
34	chr17:38140000-38153800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr17:38140000-38153800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
36	chr17:38140000-38154200	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr17:38140000-38154200	Strong transcription	Brain Germinal Matrix	brain
38	chr17:38140000-38154200	Strong transcription	Lung	lung
39	chr17:38140000-38154400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr17:38140000-38154400	Strong transcription	Right Ventricle	heart
41	chr17:38140000-38154600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr17:38140000-38154600	Strong transcription	H9 Cell Line	embryonic stem cell
43	chr17:38140000-38154600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr17:38140000-38154600	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr17:38140000-38154600	Strong transcription	Brain Hippocampus Middle	brain
46	chr17:38140000-38154600	Strong transcription	Duodenum Mucosa	Duodenum
47	chr17:38140000-38154600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr17:38140000-38154600	Strong transcription	Fetal Intestine Large	intestine
49	chr17:38140000-38155000	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr17:38140000-38155000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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