Variant report

Variant	rs175871
Chromosome Location	chr5:70899234-70899235
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:70880133..70886735-chr5:70895650..70901637,10	MCF-7	breast:
2	chr5:70881577..70886916-chr5:70891929..70900227,16	MCF-7	breast:

Variant related genes	Relation type
ENSG00000131844	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs157192	0.82[ASN][1000 genomes]
rs157193	0.81[ASN][1000 genomes]
rs166758	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs277927	0.86[ASN][1000 genomes]
rs277951	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs277952	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs277953	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs277955	0.82[ASN][1000 genomes]
rs277956	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs277977	0.81[EUR][1000 genomes]
rs277987	0.81[ASN][1000 genomes]
rs277988	0.81[ASN][1000 genomes]
rs277990	0.81[ASN][1000 genomes]
rs277991	0.81[ASN][1000 genomes]
rs277992	0.81[ASN][1000 genomes]
rs277993	0.81[ASN][1000 genomes]
rs277994	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs277998	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs282357	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs368462	0.81[ASN][1000 genomes]
rs412766	0.82[ASN][1000 genomes]
rs457539	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4703617	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][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	nsv1034703	chr5:70391173-70995695	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv830340	chr5:70797113-70967110	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:70883800-70906600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:70883800-70916400	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr5:70884000-70900000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:70884600-70906600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr5:70884800-70934800	Weak transcription	Fetal Brain Male	brain
6	chr5:70885200-70899600	Weak transcription	Brain Substantia Nigra	brain
7	chr5:70885400-70899800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr5:70888600-70900400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr5:70888600-70901000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr5:70889800-70900000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr5:70890400-70900400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:70891400-70900000	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr5:70891400-70900400	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr5:70891400-70900400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr5:70892000-70900200	Strong transcription	Fetal Muscle Trunk	muscle
16	chr5:70892000-70900400	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr5:70892000-70900400	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr5:70892000-70900400	Strong transcription	Primary B cells from peripheral blood	blood
19	chr5:70892000-70900400	Strong transcription	Duodenum Smooth Muscle	Duodenum
20	chr5:70892000-70900400	Strong transcription	Stomach Smooth Muscle	stomach
21	chr5:70892000-70900400	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr5:70892200-70899400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr5:70892200-70900200	Strong transcription	Fetal Intestine Large	intestine
24	chr5:70892200-70900400	Strong transcription	Primary T cells from cord blood	blood
25	chr5:70892200-70900400	Strong transcription	Brain Anterior Caudate	brain
26	chr5:70892200-70900400	Strong transcription	Duodenum Mucosa	Duodenum
27	chr5:70892400-70900400	Strong transcription	Fetal Muscle Leg	muscle
28	chr5:70892400-70900400	Strong transcription	Fetal Stomach	stomach
29	chr5:70893400-70905800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr5:70893400-70916600	Weak transcription	Gastric	stomach
31	chr5:70893600-70930200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr5:70893800-70899400	Weak transcription	Brain Hippocampus Middle	brain
33	chr5:70893800-70899600	Weak transcription	Brain Angular Gyrus	brain
34	chr5:70893800-70907000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr5:70893800-70908400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr5:70894000-70916400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr5:70894800-70900400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr5:70895400-70900200	Strong transcription	HepG2	liver
39	chr5:70895400-70900400	Strong transcription	Fetal Lung	lung
40	chr5:70895600-70899400	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr5:70895800-70899400	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr5:70895800-70899400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr5:70895800-70910800	Weak transcription	Spleen	Spleen
44	chr5:70895800-70911600	Weak transcription	Brain Cingulate Gyrus	brain
45	chr5:70895800-70937800	Weak transcription	Colonic Mucosa	Colon
46	chr5:70896600-70900400	Strong transcription	Primary B cells from cord blood	blood
47	chr5:70896600-70900400	Strong transcription	K562	blood
48	chr5:70896800-70899800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr5:70896800-70900400	Strong transcription	H1 Cell Line	embryonic stem cell
50	chr5:70896800-70906600	Weak transcription	Thymus	Thymus

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