Variant report

Variant	rs7717171
Chromosome Location	chr5:43501612-43501613
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:43496357..43497965-chr5:43499576..43501700,2	K562	blood:
2	chr5:43493189..43495154-chr5:43500733..43502629,2	K562	blood:
3	chr5:43498657..43501886-chr5:43512430..43516653,4	MCF-7	breast:
4	chr5:43501610..43504204-chr5:43504979..43507175,3	MCF-7	breast:
5	chr5:43499911..43502714-chr5:43503487..43506957,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000248240	Chromatin interaction
ENSG00000172244	Chromatin interaction
ENSG00000249855	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10068354	1.00[AMR][1000 genomes]
rs11738733	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs4318791	1.00[AMR][1000 genomes]
rs4349723	1.00[AMR][1000 genomes]
rs4444984	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4463185	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4481352	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4515308	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6451715	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	nsv881017	chr5:43444826-43731692	Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	222 gene(s)	inside rSNPs	diseases
2	nsv830275	chr5:43469511-43639384	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	220 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43484800-43502800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr5:43484800-43502800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr5:43484800-43502800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:43484800-43502800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr5:43484800-43505600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr5:43484800-43511000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr5:43484800-43514000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr5:43484800-43514600	Weak transcription	Ovary	ovary
9	chr5:43484800-43514800	Weak transcription	Spleen	Spleen
10	chr5:43485000-43502600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr5:43485000-43503000	Weak transcription	NHEK	skin
12	chr5:43485000-43503400	Weak transcription	Brain Germinal Matrix	brain
13	chr5:43485000-43504600	Weak transcription	Fetal Muscle Leg	muscle
14	chr5:43485000-43505000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr5:43485000-43513400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr5:43485000-43513800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr5:43485000-43514200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr5:43485200-43502800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr5:43485200-43505400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr5:43485200-43505400	Weak transcription	Fetal Intestine Large	intestine
21	chr5:43485200-43505400	Weak transcription	Fetal Stomach	stomach
22	chr5:43485200-43506000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr5:43485200-43506000	Weak transcription	Adipose Nuclei	Adipose
24	chr5:43485200-43513200	Weak transcription	NHDF-Ad	bronchial
25	chr5:43485200-43513200	Weak transcription	NHLF	lung
26	chr5:43485200-43513400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr5:43485200-43513400	Weak transcription	Fetal Lung	lung
28	chr5:43485200-43513600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr5:43485200-43513600	Weak transcription	Fetal Intestine Small	intestine
30	chr5:43485200-43513600	Weak transcription	HSMM	muscle
31	chr5:43485200-43513600	Weak transcription	NH-A	brain
32	chr5:43485200-43514200	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr5:43485400-43502800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr5:43485400-43505400	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr5:43485400-43514200	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr5:43485800-43503000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr5:43485800-43505200	Weak transcription	Primary B cells from peripheral blood	blood
38	chr5:43485800-43505600	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr5:43485800-43514200	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr5:43486000-43503000	Weak transcription	Thymus	Thymus
41	chr5:43486000-43509800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr5:43486000-43514200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr5:43486400-43513400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr5:43486400-43513600	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr5:43486800-43512200	Weak transcription	HepG2	liver
46	chr5:43486800-43513400	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr5:43487400-43502600	Weak transcription	Hela-S3	cervix
48	chr5:43487400-43510800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr5:43487600-43513600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr5:43489000-43504600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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