Variant report

Variant	rs17164449
Chromosome Location	chr5:127342272-127342273
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:127338244..127340714-chr5:127341909..127344131,2	K562	blood:
2	chr5:127341675..127343994-chr5:127346186..127349178,2	K562	blood:

Variant related genes	Relation type
ENSG00000245937	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10040931	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10519966	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11745023	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs17674953	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17839662	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1860058	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2041143	1.00[JPT][hapmap]
rs35454950	0.80[CEU][hapmap]
rs3749746	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56053416	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56100852	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56181801	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56275766	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59913942	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6895467	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6897057	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72792230	0.85[EUR][1000 genomes]
rs72792241	1.00[ASN][1000 genomes]
rs72792242	1.00[ASN][1000 genomes]
rs72792259	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7711592	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7713304	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7718065	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7719691	0.82[CEU][hapmap]
rs7722601	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1813981	chr5:127327649-127437401	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv599667	chr5:127336033-127347056	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv599668	chr5:127336033-127347815	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv1806594	chr5:127336033-127410767	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv1808488	chr5:127336033-127410767	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv1825228	chr5:127336033-127410767	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	esv1829119	chr5:127336033-127410767	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv599669	chr5:127336280-127348710	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127297800-127358400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr5:127324000-127350400	Weak transcription	HSMMtube	muscle
3	chr5:127324200-127342800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr5:127324400-127354800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr5:127324400-127358400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr5:127326400-127359400	Weak transcription	GM12878-XiMat	blood
7	chr5:127327800-127359400	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr5:127328200-127379800	Weak transcription	Esophagus	oesophagus
9	chr5:127329400-127351600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr5:127331800-127345000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr5:127332400-127388800	Weak transcription	Aorta	Aorta
12	chr5:127333600-127354200	Weak transcription	Left Ventricle	heart
13	chr5:127333600-127358200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr5:127333600-127358400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:127333600-127388800	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr5:127333600-127417800	Weak transcription	Pancreas	Pancrea
17	chr5:127333800-127370800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr5:127334600-127394000	Weak transcription	Lung	lung
19	chr5:127335000-127355800	Weak transcription	Primary T cells from cord blood	blood
20	chr5:127335000-127397600	Weak transcription	NHDF-Ad	bronchial
21	chr5:127335800-127349400	Weak transcription	Fetal Intestine Small	intestine
22	chr5:127336000-127343200	Weak transcription	A549	lung
23	chr5:127336800-127375000	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr5:127338400-127355800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr5:127338600-127344600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr5:127338600-127346400	Weak transcription	NHEK	skin
27	chr5:127338600-127358400	Weak transcription	HMEC	breast
28	chr5:127338600-127359400	Weak transcription	Ovary	ovary
29	chr5:127339000-127354600	Weak transcription	Primary B cells from cord blood	blood
30	chr5:127341200-127345000	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr5:127341800-127356000	Weak transcription	Psoas Muscle	Psoas
32	chr5:127342000-127358600	Weak transcription	Fetal Muscle Leg	muscle

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