Variant report

Variant	rs12951693
Chromosome Location	chr17:38619024-38619025
allele	C/G
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	chr17:38616159..38619058-chr17:38623950..38625450,2	K562	blood:
2	chr17:38617849..38619385-chr17:38619757..38622445,2	MCF-7	breast:
3	chr17:38616795..38619778-chr17:38651196..38652807,2	K562	blood:
4	chr17:38618819..38620675-chr17:38632063..38634752,3	K562	blood:
5	chr17:38617634..38619166-chr17:38628984..38631978,2	MCF-7	breast:
6	chr17:38611458..38614070-chr17:38618853..38620939,2	K562	blood:
7	chr17:38612055..38614566-chr17:38617242..38619590,2	K562	blood:
8	chr17:38617896..38620878-chr17:38621784..38624449,3	K562	blood:
9	chr17:38615734..38617592-chr17:38618155..38620536,2	K562	blood:

No data

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs60061677	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7225411	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72819632	1.00[ASN][1000 genomes]
rs72819633	1.00[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	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:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38612400-38619200	Enhancers	Right Atrium	heart
2	chr17:38613800-38619800	Enhancers	Rectal Smooth Muscle	rectum
3	chr17:38614000-38621000	Enhancers	Ovary	ovary
4	chr17:38614000-38623400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr17:38614200-38629200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr17:38614400-38619600	Enhancers	Colon Smooth Muscle	Colon
7	chr17:38614400-38620200	Enhancers	Placenta	Placenta
8	chr17:38614600-38619600	Enhancers	Duodenum Smooth Muscle	Duodenum
9	chr17:38614600-38620600	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr17:38614800-38620400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr17:38615000-38619200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr17:38615000-38619400	Enhancers	Liver	Liver
13	chr17:38615000-38619600	Enhancers	Right Ventricle	heart
14	chr17:38615000-38619800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr17:38615000-38620800	Enhancers	Fetal Muscle Trunk	muscle
16	chr17:38615000-38620800	Enhancers	Fetal Muscle Leg	muscle
17	chr17:38615400-38619400	Weak transcription	NH-A	brain
18	chr17:38615400-38620200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr17:38615400-38620600	Enhancers	Adipose Nuclei	Adipose
20	chr17:38615400-38621400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr17:38615400-38624600	Weak transcription	HSMM	muscle
22	chr17:38615600-38619400	Enhancers	Fetal Heart	heart
23	chr17:38615600-38620600	Enhancers	Fetal Lung	lung
24	chr17:38615800-38619200	Enhancers	NHDF-Ad	bronchial
25	chr17:38616000-38619800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr17:38616200-38619600	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr17:38616600-38619400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr17:38616600-38621000	Enhancers	Fetal Stomach	stomach
29	chr17:38616800-38619200	Enhancers	Fetal Intestine Small	intestine
30	chr17:38616800-38620200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr17:38617200-38619800	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr17:38617400-38619200	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr17:38617400-38619600	Enhancers	Left Ventricle	heart
34	chr17:38617400-38619600	Enhancers	Placenta Amnion	Placenta Amnion
35	chr17:38617800-38619800	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr17:38618000-38619200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr17:38618000-38620600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr17:38618000-38620600	Weak transcription	Fetal Kidney	kidney
39	chr17:38618000-38621600	Enhancers	H1 Cell Line	embryonic stem cell
40	chr17:38618000-38622600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr17:38618200-38619800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr17:38618200-38620600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr17:38618400-38619200	Genic enhancers	A549	lung
44	chr17:38618400-38619600	Enhancers	Fetal Intestine Large	intestine
45	chr17:38618400-38619600	Enhancers	K562	blood
46	chr17:38618400-38620600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr17:38618400-38620600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr17:38618400-38620600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr17:38618400-38621000	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr17:38618600-38619600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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