Variant report

Variant	rs4235217
Chromosome Location	chr4:173919316-173919317
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:173916638..173918298-chr4:173918525..173921197,2	K562	blood:
2	chr17:63989353..63990083-chr4:173919249..173920139,2	MCF-7	breast:
3	chr4:173918685..173922576-chr4:174253397..174256418,3	K562	blood:
4	chr4:173917478..173920172-chr4:173925204..173929304,3	MCF-7	breast:
5	chr4:173917829..173919432-chr4:174289864..174292358,2	K562	blood:

Variant related genes	Relation type
ENSG00000272870	Chromatin interaction
ENSG00000164105	Chromatin interaction
ENSG00000164104	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2610187	0.82[ASW][hapmap]
rs2610197	0.82[ASW][hapmap]
rs2653827	0.82[ASW][hapmap]
rs4519775	0.84[YRI][hapmap];1.00[AMR][1000 genomes]
rs4563475	0.91[MKK][hapmap]
rs4695819	0.82[ASW][hapmap];1.00[MKK][hapmap]
rs4696041	1.00[AMR][1000 genomes]

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	nsv948856	chr4:173388217-173967546	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv949126	chr4:173466221-174051451	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:173904200-173935200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:173910400-173920200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:173912000-173919600	Weak transcription	HUVEC	blood vessel
4	chr4:173914400-173919800	Weak transcription	Stomach Mucosa	stomach
5	chr4:173914800-173920200	Weak transcription	Esophagus	oesophagus
6	chr4:173915000-173919800	Weak transcription	Fetal Intestine Small	intestine
7	chr4:173915400-173919600	Weak transcription	Fetal Intestine Large	intestine
8	chr4:173915800-173920600	Enhancers	HSMMtube	muscle
9	chr4:173916200-173920600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr4:173916400-173920600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:173916400-173920800	Enhancers	HMEC	breast
12	chr4:173916600-173919600	Enhancers	NHEK	skin
13	chr4:173917000-173920600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr4:173917200-173920600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr4:173917600-173919600	Enhancers	K562	blood
16	chr4:173917600-173920600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr4:173917600-173920800	Enhancers	NH-A	brain
18	chr4:173917800-173920600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr4:173917800-173920800	Enhancers	Hela-S3	cervix
20	chr4:173917800-173920800	Enhancers	NHDF-Ad	bronchial
21	chr4:173918000-173919600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr4:173918000-173919600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr4:173918000-173919600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr4:173918200-173919800	Enhancers	HSMM	muscle
25	chr4:173918400-173919600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr4:173918400-173919600	Enhancers	Muscle Satellite Cultured Cells	--
27	chr4:173918400-173920400	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr4:173918600-173919600	Enhancers	Osteobl	bone
29	chr4:173918600-173920400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr4:173918800-173920400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr4:173919000-173920600	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr4:173919000-173920600	Enhancers	NHLF	lung
33	chr4:173919200-173919400	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr4:173919200-173919600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr4:173919200-173919600	Enhancers	Psoas Muscle	Psoas
36	chr4:173919200-173919600	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr4:173919200-173920000	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr4:173919200-173920200	Weak transcription	A549	lung

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