Variant report

Variant	rs4701197
Chromosome Location	chr5:179128235-179128236
allele	G/T
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:179120215..179122887-chr5:179127678..179129697,2	K562	blood:
2	chr5:179123586..179129079-chr5:179129217..179136579,19	MCF-7	breast:
3	chr5:179123960..179129281-chr5:179231995..179235216,8	K562	blood:
4	chr5:179101962..179108661-chr5:179122383..179128408,19	MCF-7	breast:
5	chr5:179125663..179128297-chr5:179149056..179150816,2	MCF-7	breast:
6	chr5:179125392..179128992-chr5:179244423..179246560,4	K562	blood:
7	chr5:179127758..179131964-chr5:179232228..179234815,3	MCF-7	breast:
8	chr5:179123960..179129252-chr5:179231413..179236095,7	K562	blood:
9	chr5:179047558..179053114-chr5:179123905..179129187,22	K562	blood:
10	chr5:179127269..179130217-chr5:179212553..179215180,2	K562	blood:
11	chr5:179126083..179129267-chr5:179148624..179150852,3	K562	blood:
12	chr5:179049208..179051645-chr5:179125705..179129690,6	MCF-7	breast:
13	chr5:179101603..179111989-chr5:179122927..179129527,32	MCF-7	breast:
14	chr5:179100838..179108153-chr5:179124449..179130181,22	K562	blood:
15	chr5:179122873..179128898-chr5:179155888..179164921,20	K562	blood:
16	chr5:179100989..179111182-chr5:179122076..179128627,19	K562	blood:
17	chr5:179121400..179128828-chr5:179157984..179161377,21	K562	blood:
18	chr5:179123632..179128657-chr5:179156913..179163491,14	MCF-7	breast:
19	chr5:179045239..179052804-chr5:179123707..179130726,40	K562	blood:

No data

Variant related genes	Relation type
ENSG00000127022	Chromatin interaction
ENSG00000161011	Chromatin interaction
ENSG00000161021	Chromatin interaction
ENSG00000161013	Chromatin interaction
ENSG00000169045	Chromatin interaction
ENSG00000225051	Chromatin interaction
ENSG00000204659	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10516140	1.00[JPT][hapmap]
rs11738962	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11747219	0.81[CEU][hapmap]
rs11747643	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12654954	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs166624	0.84[JPT][hapmap]
rs2890060	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4441842	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4504352	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4526069	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4700839	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6627	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6877064	0.85[JPT][hapmap]
rs6879613	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71613416	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7566	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7700649	0.81[CEU][hapmap]
rs7723450	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9800237	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949554	chr5:178832325-179309513	Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
2	nsv883270	chr5:178951106-179350387	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
3	nsv830560	chr5:179039212-179175758	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
4	nsv531997	chr5:179107599-179588082	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	339 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179126000-179128600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr5:179127000-179128400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:179127000-179129200	Weak transcription	Small Intestine	intestine
4	chr5:179127200-179128800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:179127200-179129600	Enhancers	Spleen	Spleen
6	chr5:179127200-179132600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:179127400-179128600	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr5:179127400-179128600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr5:179127400-179128600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr5:179127400-179129200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr5:179127400-179137800	Weak transcription	Aorta	Aorta
12	chr5:179127600-179128600	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
13	chr5:179127600-179130000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr5:179127600-179132000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr5:179127800-179128400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr5:179127800-179128400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr5:179127800-179128400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr5:179127800-179128400	Weak transcription	Primary B cells from cord blood	blood
19	chr5:179127800-179128400	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr5:179127800-179128400	Genic enhancers	Placenta	Placenta
21	chr5:179127800-179128400	Genic enhancers	Gastric	stomach
22	chr5:179127800-179128400	Weak transcription	Lung	lung
23	chr5:179127800-179128400	Enhancers	Rectal Mucosa Donor 29	rectum
24	chr5:179127800-179128400	Active TSS	A549	lung
25	chr5:179127800-179128400	Enhancers	HMEC	breast
26	chr5:179127800-179128600	Genic enhancers	Primary T cells fromperipheralblood	blood
27	chr5:179127800-179128600	Genic enhancers	Fetal Muscle Leg	muscle
28	chr5:179127800-179128800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr5:179127800-179128800	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr5:179127800-179128800	Weak transcription	Ovary	ovary
31	chr5:179127800-179128800	Weak transcription	Right Atrium	heart
32	chr5:179127800-179129000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr5:179127800-179129000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr5:179127800-179129000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr5:179127800-179129000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr5:179127800-179129000	Weak transcription	Brain Germinal Matrix	brain
37	chr5:179127800-179129000	Weak transcription	Fetal Brain Male	brain
38	chr5:179127800-179129000	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr5:179127800-179129000	Weak transcription	HSMM	muscle
40	chr5:179127800-179129200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr5:179127800-179129200	Enhancers	Primary hematopoietic stem cells	blood
42	chr5:179127800-179129200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr5:179127800-179129200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr5:179127800-179129200	Genic enhancers	Fetal Muscle Trunk	muscle
45	chr5:179127800-179129200	Enhancers	Right Ventricle	heart
46	chr5:179127800-179129400	Genic enhancers	Fetal Thymus	thymus
47	chr5:179127800-179129600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr5:179127800-179129600	Strong transcription	H1 Cell Line	embryonic stem cell
49	chr5:179127800-179129600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr5:179127800-179129600	Weak transcription	Primary B cells from peripheral blood	blood

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