Variant report

Variant	rs17013477
Chromosome Location	chr4:129489592-129489593
allele	A/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:6)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:129484036..129485610-chr4:129487423..129489739,2	K562	blood:
2	chr4:129488347..129490310-chr4:129494247..129495821,2	MCF-7	breast:
3	chr4:129486871..129489829-chr4:129782805..129785623,2	K562	blood:
4	chr4:129488526..129491708-chr4:129730813..129734421,3	K562	blood:
5	chr4:129483750..129486911-chr4:129488780..129490934,3	MCF-7	breast:
6	chr4:129473829..129476185-chr4:129487310..129489596,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PGRMC2-1	chr4:129489127-129490442	XLOC_004072
2	lnc-PGRMC2-1	chr4:129489127-129490442	ENSG00000248187

No data

Variant related genes	Relation type
ENSG00000077684	Chromatin interaction
ENSG00000273077	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs1216403	0.82[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv1017672	chr4:129450450-129603977	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129476400-129491200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:129480800-129490000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr4:129480800-129490200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr4:129481000-129490200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr4:129481000-129493800	Weak transcription	Aorta	Aorta
6	chr4:129481200-129490200	Weak transcription	Colon Smooth Muscle	Colon
7	chr4:129481400-129493800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr4:129482800-129491200	Weak transcription	Right Atrium	heart
9	chr4:129482800-129494000	Weak transcription	Stomach Mucosa	stomach
10	chr4:129482800-129498200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr4:129483800-129494800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:129485000-129493000	Enhancers	A549	lung
13	chr4:129485200-129492400	Weak transcription	Adipose Nuclei	Adipose
14	chr4:129485800-129489800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr4:129487400-129490200	Enhancers	Osteobl	bone
16	chr4:129487400-129491000	Weak transcription	K562	blood
17	chr4:129487400-129496200	Enhancers	NHDF-Ad	bronchial
18	chr4:129487600-129490200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr4:129487600-129490200	Weak transcription	Stomach Smooth Muscle	stomach
20	chr4:129487600-129490600	Weak transcription	Fetal Intestine Small	intestine
21	chr4:129487600-129491400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr4:129487600-129492600	Weak transcription	Fetal Intestine Large	intestine
23	chr4:129487800-129491200	Weak transcription	Lung	lung
24	chr4:129487800-129491200	Weak transcription	Pancreas	Pancrea
25	chr4:129488000-129491400	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr4:129488400-129489800	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr4:129488400-129490000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr4:129488400-129490000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr4:129488400-129491000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr4:129488400-129491200	Weak transcription	NH-A	brain
31	chr4:129488400-129491400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr4:129488600-129490000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr4:129488600-129490000	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr4:129488600-129490000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr4:129488600-129490000	Weak transcription	NHLF	lung
36	chr4:129488600-129490200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr4:129488600-129490600	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr4:129488600-129490800	Weak transcription	HUVEC	blood vessel
39	chr4:129488600-129491200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr4:129488800-129490000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr4:129488800-129490000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr4:129488800-129494200	Weak transcription	Fetal Heart	heart
43	chr4:129489000-129490000	Weak transcription	Ovary	ovary
44	chr4:129489000-129490200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr4:129489000-129490200	Weak transcription	HSMM	muscle
46	chr4:129489000-129490200	Weak transcription	HSMMtube	muscle
47	chr4:129489000-129491200	Weak transcription	Small Intestine	intestine
48	chr4:129489000-129491800	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr4:129489000-129493800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr4:129489000-129494400	Weak transcription	Fetal Muscle Leg	muscle

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