Variant report

Variant	rs73151473
Chromosome Location	chr5:98130434-98130435
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:98129808..98132282-chr5:98134081..98135788,2	K562	blood:
2	chr5:98123018..98126275-chr5:98130087..98132367,4	MCF-7	breast:
3	chr5:98105450..98112138-chr5:98128603..98138411,14	MCF-7	breast:
4	chr5:98124398..98126468-chr5:98128299..98131960,3	MCF-7	breast:
5	chr5:98126420..98128371-chr5:98130230..98131989,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000174136	Chromatin interaction
ENSG00000246763	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11954623	1.00[AMR][1000 genomes]
rs11957518	1.00[AMR][1000 genomes]
rs1508794	1.00[AMR][1000 genomes]
rs1508795	1.00[AMR][1000 genomes]
rs17166354	1.00[AMR][1000 genomes]
rs17166367	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17166368	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2035229	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2036691	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3952932	1.00[AMR][1000 genomes]
rs55660533	1.00[AMR][1000 genomes]
rs57293752	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58710516	1.00[AMR][1000 genomes]
rs6890688	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6895731	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73151405	1.00[AMR][1000 genomes]
rs73151407	1.00[AMR][1000 genomes]
rs73151426	1.00[AMR][1000 genomes]
rs73151428	1.00[AMR][1000 genomes]
rs73151441	1.00[AMR][1000 genomes]
rs73151444	1.00[AMR][1000 genomes]
rs73151454	1.00[AMR][1000 genomes]
rs73151459	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73151463	1.00[AMR][1000 genomes]
rs73151464	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73153510	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7707936	1.00[AMR][1000 genomes]
rs906681	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882414	chr5:98063710-98193164	Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:98111000-98131800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr5:98111600-98131800	Weak transcription	Placenta	Placenta
3	chr5:98112000-98135800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr5:98114800-98131400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr5:98117600-98132200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr5:98118400-98131800	Weak transcription	A549	lung
7	chr5:98122200-98132000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr5:98123000-98132400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr5:98123800-98130600	Weak transcription	Colonic Mucosa	Colon
10	chr5:98123800-98131000	Weak transcription	Right Atrium	heart
11	chr5:98123800-98132000	Weak transcription	Primary T cells from cord blood	blood
12	chr5:98123800-98136800	Weak transcription	Fetal Brain Male	brain
13	chr5:98123800-98140600	Weak transcription	Brain Substantia Nigra	brain
14	chr5:98124000-98132000	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr5:98124000-98132000	Weak transcription	Fetal Lung	lung
16	chr5:98124600-98130600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr5:98125200-98132000	Genic enhancers	NHDF-Ad	bronchial
18	chr5:98125600-98132000	Weak transcription	Stomach Mucosa	stomach
19	chr5:98126200-98131200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr5:98127400-98131200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr5:98127400-98131600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:98127600-98131600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr5:98127600-98131800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr5:98127600-98131800	Weak transcription	Fetal Kidney	kidney
25	chr5:98127800-98130800	Genic enhancers	Stomach Smooth Muscle	stomach
26	chr5:98127800-98131200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr5:98127800-98131800	Weak transcription	Colon Smooth Muscle	Colon
28	chr5:98128000-98130800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr5:98128000-98131000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr5:98128200-98130800	Strong transcription	Fetal Stomach	stomach
31	chr5:98128600-98130600	Strong transcription	HSMMtube	muscle
32	chr5:98128600-98131200	Strong transcription	Fetal Intestine Small	intestine
33	chr5:98128600-98131400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr5:98128800-98130600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr5:98128800-98130800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr5:98128800-98130800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr5:98128800-98130800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr5:98128800-98130800	Strong transcription	NH-A	brain
39	chr5:98128800-98131000	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr5:98128800-98131200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr5:98128800-98131200	Strong transcription	Fetal Brain Female	brain
42	chr5:98129000-98130800	Genic enhancers	NHLF	lung
43	chr5:98129000-98131400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr5:98129200-98130600	Genic enhancers	Fetal Intestine Large	intestine
45	chr5:98129200-98131200	Genic enhancers	Osteobl	bone
46	chr5:98129200-98131600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr5:98129200-98132200	Weak transcription	Hela-S3	cervix
48	chr5:98129400-98130600	Weak transcription	Psoas Muscle	Psoas
49	chr5:98129400-98130600	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr5:98129400-98130600	Strong transcription	HSMM	muscle

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