Variant report

Variant	rs9894493
Chromosome Location	chr17:38617574-38617575
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:38616159..38619058-chr17:38623950..38625450,2	K562	blood:
2	chr17:38616795..38619778-chr17:38651196..38652807,2	K562	blood:
3	chr17:38615820..38617630-chr17:38655195..38658497,3	MCF-7	breast:
4	chr17:38615734..38617592-chr17:38618155..38620536,2	K562	blood:
5	chr17:38612055..38614566-chr17:38617242..38619590,2	K562	blood:
6	chr17:38615426..38618640-chr17:38688722..38692627,3	MCF-7	breast:
7	chr17:38595963..38598881-chr17:38617030..38618632,2	K562	blood:

Variant related genes	Relation type
ENSG00000240125	Chromatin interaction
ENSG00000131746	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10305311	0.82[YRI][hapmap]
rs11574664	1.00[AMR][1000 genomes]
rs11657772	1.00[AMR][1000 genomes]
rs12936773	1.00[AMR][1000 genomes]
rs9899406	1.00[AMR][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

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38607600-38618400	Genic enhancers	NHLF	lung
2	chr17:38610400-38618600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr17:38612400-38619200	Enhancers	Right Atrium	heart
4	chr17:38613800-38619800	Enhancers	Rectal Smooth Muscle	rectum
5	chr17:38614000-38621000	Enhancers	Ovary	ovary
6	chr17:38614000-38623400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr17:38614200-38629200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr17:38614400-38619600	Enhancers	Colon Smooth Muscle	Colon
9	chr17:38614400-38620200	Enhancers	Placenta	Placenta
10	chr17:38614600-38617800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr17:38614600-38618400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr17:38614600-38619600	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr17:38614600-38620600	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr17:38614800-38618000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr17:38614800-38620400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr17:38615000-38618200	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr17:38615000-38618800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr17:38615000-38619200	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr17:38615000-38619400	Enhancers	Liver	Liver
20	chr17:38615000-38619600	Enhancers	Right Ventricle	heart
21	chr17:38615000-38619800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr17:38615000-38620800	Enhancers	Fetal Muscle Trunk	muscle
23	chr17:38615000-38620800	Enhancers	Fetal Muscle Leg	muscle
24	chr17:38615200-38618200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr17:38615200-38618600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr17:38615200-38618600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr17:38615400-38617600	Weak transcription	Duodenum Mucosa	Duodenum
28	chr17:38615400-38618400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr17:38615400-38618800	Weak transcription	HUVEC	blood vessel
30	chr17:38615400-38619000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr17:38615400-38619000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr17:38615400-38619400	Weak transcription	NH-A	brain
33	chr17:38615400-38620200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr17:38615400-38620600	Enhancers	Adipose Nuclei	Adipose
35	chr17:38615400-38621400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr17:38615400-38624600	Weak transcription	HSMM	muscle
37	chr17:38615600-38618800	Weak transcription	HSMMtube	muscle
38	chr17:38615600-38619400	Enhancers	Fetal Heart	heart
39	chr17:38615600-38620600	Enhancers	Fetal Lung	lung
40	chr17:38615800-38617800	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr17:38615800-38619200	Enhancers	NHDF-Ad	bronchial
42	chr17:38616000-38619800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr17:38616200-38619600	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr17:38616400-38617600	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr17:38616400-38618200	Weak transcription	Esophagus	oesophagus
46	chr17:38616400-38618800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr17:38616400-38619000	Enhancers	Spleen	Spleen
48	chr17:38616600-38618000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr17:38616600-38618000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr17:38616600-38618400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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