Variant report

Variant	rs73238074
Chromosome Location	chr7:127669584-127669585
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	chr7:127663588..127667936-chr7:127668041..127670204,3	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10215276	0.81[EUR][1000 genomes]
rs10255861	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10260037	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1075206	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1193334	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1193337	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1362267	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1362268	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1362897	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1419969	0.89[EUR][1000 genomes]
rs17676908	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17676986	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17733988	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1833147	0.85[EUR][1000 genomes]
rs3757757	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3757767	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3808057	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3808058	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3808073	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3808084	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3808087	0.93[EUR][1000 genomes]
rs3824000	0.81[EUR][1000 genomes]
rs6948493	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6963614	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs720300	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs759056	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7786041	0.81[AMR][1000 genomes]
rs887745	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs917831	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[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	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1024743	chr7:127498695-127670004	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127641600-127670400	Weak transcription	Colonic Mucosa	Colon
2	chr7:127644000-127670200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr7:127644800-127670800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr7:127645000-127684000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr7:127645400-127670000	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr7:127651800-127670600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr7:127657000-127670200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr7:127658800-127669600	Weak transcription	Stomach Mucosa	stomach
9	chr7:127661200-127670400	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr7:127661600-127670200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr7:127661600-127670400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr7:127663200-127671200	Weak transcription	NHLF	lung
13	chr7:127663200-127671400	Weak transcription	NHDF-Ad	bronchial
14	chr7:127663600-127670800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr7:127664200-127670600	Enhancers	Adipose Nuclei	Adipose
16	chr7:127664800-127669600	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr7:127666000-127670400	Weak transcription	Primary B cells from peripheral blood	blood
18	chr7:127666000-127670800	Weak transcription	HMEC	breast
19	chr7:127666000-127670800	Weak transcription	Osteobl	bone
20	chr7:127666200-127672600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr7:127666600-127670400	Weak transcription	HUVEC	blood vessel
22	chr7:127666600-127670600	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr7:127666800-127670600	Weak transcription	Psoas Muscle	Psoas
24	chr7:127666800-127670800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:127668200-127669600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:127668200-127669600	Genic enhancers	HSMM	muscle
27	chr7:127668200-127670000	Weak transcription	Primary B cells from cord blood	blood
28	chr7:127668200-127670600	Weak transcription	Fetal Kidney	kidney
29	chr7:127668200-127670600	Weak transcription	NH-A	brain
30	chr7:127668200-127670800	Weak transcription	HSMMtube	muscle
31	chr7:127668200-127672200	Weak transcription	Fetal Heart	heart
32	chr7:127668400-127670600	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr7:127668600-127670400	Genic enhancers	Cortex derived primary cultured neurospheres	brain
34	chr7:127668600-127670800	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr7:127668800-127669600	Genic enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr7:127668800-127669600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr7:127668800-127669600	Genic enhancers	Liver	Liver
38	chr7:127668800-127669600	Transcr. at gene 5' and 3'	Brain Cingulate Gyrus	brain
39	chr7:127668800-127669600	Strong transcription	Esophagus	oesophagus
40	chr7:127668800-127669600	Genic enhancers	Lung	lung
41	chr7:127668800-127669600	Genic enhancers	Pancreas	Pancrea
42	chr7:127668800-127669800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr7:127668800-127669800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr7:127668800-127669800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr7:127668800-127669800	Genic enhancers	Monocytes-CD14+_RO01746	blood
46	chr7:127668800-127670000	Genic enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:127668800-127670000	Strong transcription	Primary T cells from cord blood	blood
48	chr7:127668800-127670000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr7:127668800-127670000	Transcr. at gene 5' and 3'	Brain Anterior Caudate	brain
50	chr7:127668800-127670000	Transcr. at gene 5' and 3'	Brain Inferior Temporal Lobe	brain

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