Variant report

Variant	rs8750
Chromosome Location	chr5:95149966-95149967
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:95149187..95152215-chr5:95156568..95159390,5	MCF-7	breast:
2	chr5:94890695..94892363-chr5:95148648..95150304,2	K562	blood:
3	chr5:95149457..95151084-chr5:95151205..95153172,2	K562	blood:
4	chr5:95147817..95150624-chr5:95169490..95171087,2	K562	blood:

Variant related genes	Relation type
ENSG00000173221	Chromatin interaction
ENSG00000198677	Chromatin interaction
ENSG00000164291	Chromatin interaction
ENSG00000251000	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10042284	1.00[ASN][1000 genomes]
rs11953221	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17085130	1.00[ASN][1000 genomes]
rs28927977	1.00[ASN][1000 genomes]
rs7700814	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830409	chr5:95006686-95204496	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1015180	chr5:95134357-95286446	Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv462255	chr5:95142817-95168155	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv598961	chr5:95142817-95168155	Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv882389	chr5:95144952-95173887	Strong transcription Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv980699	chr5:95149795-95150898	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95115400-95157000	Weak transcription	Aorta	Aorta
2	chr5:95121000-95156800	Weak transcription	Brain Germinal Matrix	brain
3	chr5:95124600-95154400	Weak transcription	Brain Angular Gyrus	brain
4	chr5:95125000-95154400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr5:95130000-95157400	Weak transcription	Ovary	ovary
6	chr5:95139800-95154200	Weak transcription	Pancreas	Pancrea
7	chr5:95143200-95153600	Genic enhancers	Fetal Thymus	thymus
8	chr5:95144200-95150400	Weak transcription	Hela-S3	cervix
9	chr5:95144600-95151200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr5:95145400-95150200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr5:95145600-95153200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:95145600-95154200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr5:95145600-95154400	Weak transcription	Esophagus	oesophagus
14	chr5:95146000-95157200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr5:95146400-95152600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr5:95146600-95150400	Weak transcription	Fetal Stomach	stomach
17	chr5:95146600-95153000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr5:95146600-95153800	Weak transcription	Brain Substantia Nigra	brain
19	chr5:95146800-95150400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:95146800-95152800	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr5:95146800-95153200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr5:95146800-95157000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr5:95147000-95153400	Weak transcription	NHDF-Ad	bronchial
24	chr5:95147400-95152400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr5:95147600-95152600	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr5:95147600-95152600	Weak transcription	Small Intestine	intestine
27	chr5:95147800-95150800	Strong transcription	Primary B cells from cord blood	blood
28	chr5:95147800-95152600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr5:95148000-95150600	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr5:95148000-95152200	Strong transcription	Primary B cells from peripheral blood	blood
31	chr5:95148000-95152600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr5:95148000-95152800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
33	chr5:95148200-95150000	Weak transcription	Fetal Muscle Leg	muscle
34	chr5:95148200-95150000	Weak transcription	Psoas Muscle	Psoas
35	chr5:95148200-95150200	Weak transcription	Brain Hippocampus Middle	brain
36	chr5:95148200-95150200	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr5:95148200-95150600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr5:95148200-95151400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr5:95148200-95151400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr5:95148200-95151400	Weak transcription	Gastric	stomach
41	chr5:95148200-95151400	Weak transcription	Rectal Smooth Muscle	rectum
42	chr5:95148200-95152600	Strong transcription	Muscle Satellite Cultured Cells	--
43	chr5:95148200-95152800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr5:95148200-95152800	Strong transcription	Spleen	Spleen
45	chr5:95148200-95153000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr5:95148200-95153000	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr5:95148200-95153000	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr5:95148200-95153000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr5:95148200-95153000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr5:95148200-95153000	Weak transcription	Fetal Muscle Trunk	muscle

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