Variant report

Variant	rs6413494
Chromosome Location	chr17:38613809-38613810
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Distal block	Cell Line	Cell type
1	chr17:38608476..38611175-chr17:38612841..38616006,3	K562	blood:
2	chr17:38612055..38614566-chr17:38617242..38619590,2	K562	blood:
3	chr17:38611729..38614382-chr17:38632833..38635609,3	K562	blood:
4	chr17:38612531..38614627-chr17:38615912..38617544,2	MCF-7	breast:
5	chr17:38599194..38601222-chr17:38612081..38614290,2	K562	blood:
6	chr17:38604024..38606097-chr17:38612875..38614385,2	K562	blood:
7	chr17:38611458..38614070-chr17:38618853..38620939,2	K562	blood:
8	chr17:38599579..38602497-chr17:38613595..38616074,3	K562	blood:
9	chr17:38611392..38613871-chr17:38623323..38625961,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000131746	Chromatin interaction
ENSG00000141753	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12938382	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs12941974	1.00[ASW][hapmap];0.85[YRI][hapmap]
rs35780567	1.00[ASW][hapmap]
rs36106831	0.80[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	nsv833445	chr17:38466474-38637969	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6413494	ZPBP2	cis	lymphoblastoid	seeQTL

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38601800-38614000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr17:38602200-38614000	Weak transcription	Fetal Brain Female	brain
3	chr17:38602200-38614400	Weak transcription	Brain Angular Gyrus	brain
4	chr17:38605000-38614800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr17:38605200-38614400	Weak transcription	Thymus	Thymus
6	chr17:38605400-38616800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr17:38606400-38616400	Weak transcription	K562	blood
8	chr17:38606600-38614400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr17:38606600-38617400	Weak transcription	Small Intestine	intestine
10	chr17:38607000-38615000	Genic enhancers	Liver	Liver
11	chr17:38607600-38618400	Genic enhancers	NHLF	lung
12	chr17:38607800-38614000	Weak transcription	Brain Hippocampus Middle	brain
13	chr17:38607800-38615400	Strong transcription	HUVEC	blood vessel
14	chr17:38608600-38614000	Strong transcription	H9 Cell Line	embryonic stem cell
15	chr17:38608600-38614400	Genic enhancers	Colon Smooth Muscle	Colon
16	chr17:38608600-38615400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr17:38608600-38615600	Strong transcription	Dnd41	blood
18	chr17:38608800-38614200	Weak transcription	Brain Substantia Nigra	brain
19	chr17:38608800-38615800	Genic enhancers	NHDF-Ad	bronchial
20	chr17:38608800-38616400	Genic enhancers	Osteobl	bone
21	chr17:38609000-38614000	Strong transcription	Placenta	Placenta
22	chr17:38609000-38615000	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr17:38609200-38614000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr17:38609200-38616000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr17:38610400-38618600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr17:38610800-38615400	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr17:38611000-38616400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr17:38611200-38614000	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr17:38611200-38614200	Weak transcription	Brain Germinal Matrix	brain
30	chr17:38611200-38615200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr17:38611800-38614000	Weak transcription	HepG2	liver
32	chr17:38612000-38614400	Genic enhancers	Duodenum Smooth Muscle	Duodenum
33	chr17:38612000-38615000	Genic enhancers	Muscle Satellite Cultured Cells	--
34	chr17:38612000-38616200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr17:38612200-38614800	Strong transcription	Sigmoid Colon	Sigmoid Colon
36	chr17:38612200-38615800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr17:38612200-38616600	Genic enhancers	Fetal Stomach	stomach
38	chr17:38612400-38614000	Genic enhancers	Ovary	ovary
39	chr17:38612400-38615000	Genic enhancers	Fetal Muscle Trunk	muscle
40	chr17:38612400-38615000	Genic enhancers	Fetal Muscle Leg	muscle
41	chr17:38612400-38615000	Genic enhancers	Right Ventricle	heart
42	chr17:38612400-38615400	Genic enhancers	Adipose Nuclei	Adipose
43	chr17:38612400-38619200	Enhancers	Right Atrium	heart
44	chr17:38612600-38614000	Genic enhancers	Left Ventricle	heart
45	chr17:38612600-38615400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr17:38612600-38615600	Genic enhancers	Lung	lung
47	chr17:38612600-38616600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr17:38612800-38614000	Enhancers	Fetal Lung	lung
49	chr17:38612800-38614400	Genic enhancers	HSMM	muscle
50	chr17:38612800-38615200	Enhancers	Fetal Brain Male	brain

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