Variant report

Variant	rs17166450
Chromosome Location	chr5:98272513-98272514
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:98271988-98274936	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr5:98260830-98273878	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:98261788..98268544-chr5:98272174..98280784,17	MCF-7	breast:

Variant related genes	Relation type
ENSG00000200351	TF binding region
ENSG00000248489	Chromatin interaction
ENSG00000153922	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10044680	1.00[EUR][1000 genomes]
rs10045317	1.00[EUR][1000 genomes]
rs10046011	1.00[EUR][1000 genomes]
rs10060286	1.00[EUR][1000 genomes]
rs13358830	1.00[EUR][1000 genomes]
rs1382336	1.00[EUR][1000 genomes]
rs161743	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs162139	1.00[EUR][1000 genomes]
rs162141	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs162142	1.00[EUR][1000 genomes]
rs162143	1.00[EUR][1000 genomes]
rs162157	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs162160	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs162161	1.00[AMR][1000 genomes]
rs162162	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs170579	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17166397	1.00[EUR][1000 genomes]
rs17166454	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs179175	1.00[EUR][1000 genomes]
rs1828171	1.00[EUR][1000 genomes]
rs28782775	1.00[EUR][1000 genomes]
rs325196	1.00[AMR][1000 genomes]
rs325198	1.00[EUR][1000 genomes]
rs325210	1.00[AMR][1000 genomes]
rs325216	1.00[EUR][1000 genomes]
rs327801	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs327802	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs327805	1.00[EUR][1000 genomes]
rs451883	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57969582	1.00[EUR][1000 genomes]
rs59156696	1.00[EUR][1000 genomes]
rs61578983	1.00[EUR][1000 genomes]
rs6891520	1.00[EUR][1000 genomes]
rs73151499	1.00[EUR][1000 genomes]
rs73153514	1.00[EUR][1000 genomes]
rs73153532	1.00[EUR][1000 genomes]
rs73155421	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73155423	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7727696	1.00[EUR][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	nsv882415	chr5:98134186-98312447	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv882416	chr5:98146106-98312447	Bivalent/Poised TSS Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv537818	chr5:98241627-98279192	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
4	nsv537819	chr5:98253348-98299646	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:98266000-98276400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr5:98266000-98276400	Weak transcription	Placenta	Placenta
3	chr5:98266200-98272600	Weak transcription	Fetal Muscle Leg	muscle
4	chr5:98266200-98273200	Weak transcription	Right Ventricle	heart
5	chr5:98266200-98274200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr5:98266200-98283600	Weak transcription	Colonic Mucosa	Colon
7	chr5:98266400-98272600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr5:98266400-98273000	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr5:98266400-98273400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr5:98266400-98273400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr5:98266400-98276200	Weak transcription	Fetal Kidney	kidney
12	chr5:98266600-98273400	Weak transcription	NHDF-Ad	bronchial
13	chr5:98266600-98291400	Weak transcription	Brain Germinal Matrix	brain
14	chr5:98266800-98273200	Weak transcription	HUVEC	blood vessel
15	chr5:98266800-98274000	Weak transcription	Fetal Lung	lung
16	chr5:98266800-98277000	Weak transcription	HMEC	breast
17	chr5:98266800-98278400	Weak transcription	Hela-S3	cervix
18	chr5:98266800-98283200	Weak transcription	Duodenum Mucosa	Duodenum
19	chr5:98267000-98274000	Weak transcription	Adipose Nuclei	Adipose
20	chr5:98267400-98272600	Weak transcription	Fetal Intestine Small	intestine
21	chr5:98267400-98277800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr5:98269400-98273400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr5:98269600-98274200	Weak transcription	Stomach Smooth Muscle	stomach
24	chr5:98269600-98274200	Weak transcription	Thymus	Thymus
25	chr5:98269600-98274400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr5:98269600-98274600	Weak transcription	Right Atrium	heart
27	chr5:98269800-98274200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr5:98270000-98275600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr5:98270200-98274200	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr5:98270200-98276400	Weak transcription	Fetal Thymus	thymus
31	chr5:98270400-98272600	Weak transcription	Primary hematopoietic stem cells	blood
32	chr5:98270600-98273000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr5:98270600-98273800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr5:98270800-98273200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr5:98270800-98274200	Weak transcription	Rectal Smooth Muscle	rectum
36	chr5:98270800-98274400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr5:98271000-98273000	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr5:98271000-98273800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr5:98271000-98273800	Weak transcription	Brain Substantia Nigra	brain
40	chr5:98271000-98274000	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr5:98271000-98274200	Weak transcription	Colon Smooth Muscle	Colon
42	chr5:98271000-98276000	Weak transcription	Primary T cells from cord blood	blood
43	chr5:98271200-98272600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr5:98271200-98273800	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr5:98271200-98274000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr5:98271200-98274000	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr5:98271200-98274000	Weak transcription	NHLF	lung
48	chr5:98271200-98275000	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr5:98271400-98272600	Weak transcription	HSMMtube	muscle
50	chr5:98271400-98272600	Weak transcription	Osteobl	bone

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