Variant report

Variant	rs73025620
Chromosome Location	chr1:173969233-173969234
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:173967626..173970075-chr1:173971357..173973952,2	MCF-7	breast:
2	chr1:173968588..173970822-chr1:173991024..173992725,2	K562	blood:
3	chr1:173835569..173838721-chr1:173965548..173969329,3	K562	blood:
4	chr1:173966978..173969283-chr1:173971302..173973529,3	K562	blood:
5	chr1:173967156..173969283-chr1:173971628..173973529,2	K562	blood:

Variant related genes	Relation type
ENSG00000135870	Chromatin interaction
ENSG00000234741	Chromatin interaction
ENSG00000185278	Chromatin interaction
ENSG00000224977	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1322769	1.00[AMR][1000 genomes]
rs16846397	1.00[AMR][1000 genomes]
rs16846483	1.00[AMR][1000 genomes]
rs2227620	1.00[AMR][1000 genomes]
rs57006357	1.00[AMR][1000 genomes]
rs57343517	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57664780	1.00[AMR][1000 genomes]
rs58576036	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58735809	1.00[AMR][1000 genomes]
rs58930477	1.00[AMR][1000 genomes]
rs59355797	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59846661	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60229445	0.80[AFR][1000 genomes]
rs6667627	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6704413	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73025612	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73027407	1.00[AMR][1000 genomes]
rs73027443	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73027460	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73027463	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73027464	1.00[AMR][1000 genomes]
rs73027488	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73035134	1.00[AMR][1000 genomes]
rs73035139	1.00[AMR][1000 genomes]
rs73037076	1.00[AMR][1000 genomes]
rs73037083	1.00[AMR][1000 genomes]
rs73037097	1.00[AMR][1000 genomes]
rs73041050	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73041059	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7519571	1.00[AMR][1000 genomes]
rs7531236	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7547873	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9726181	1.00[AMR][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	nsv1012384	chr1:173614816-173974426	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases
2	nsv916960	chr1:173907804-174080248	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv872551	chr1:173913804-174025660	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv831937	chr1:173949373-174131463	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173909800-173974200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:173915600-173977800	Weak transcription	Stomach Mucosa	stomach
3	chr1:173931200-173969800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr1:173942200-173986200	Weak transcription	Fetal Brain Male	brain
5	chr1:173949200-173970600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:173949600-173970600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:173950600-173973400	Weak transcription	Psoas Muscle	Psoas
8	chr1:173953200-173974200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr1:173958600-173987200	Weak transcription	Gastric	stomach
10	chr1:173960800-173970400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr1:173962000-173975000	Weak transcription	Right Ventricle	heart
12	chr1:173962000-173988400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:173962200-173969600	Weak transcription	Brain Angular Gyrus	brain
14	chr1:173962200-173969600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr1:173962200-173970200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr1:173962200-173970400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr1:173962200-173970400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:173962200-173970400	Weak transcription	Ovary	ovary
19	chr1:173962200-173970600	Weak transcription	Stomach Smooth Muscle	stomach
20	chr1:173962200-173972200	Weak transcription	Spleen	Spleen
21	chr1:173962200-173974000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr1:173962200-173974000	Weak transcription	HSMMtube	muscle
23	chr1:173962200-173974200	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr1:173962200-173974200	Weak transcription	HMEC	breast
25	chr1:173962200-173976600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:173962200-173976800	Weak transcription	NH-A	brain
27	chr1:173962200-173977200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr1:173962200-173978400	Weak transcription	Colonic Mucosa	Colon
29	chr1:173962200-173978600	Weak transcription	Lung	lung
30	chr1:173962200-173983200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr1:173962200-173984200	Weak transcription	Primary T cells from cord blood	blood
32	chr1:173962200-173989000	Weak transcription	Fetal Kidney	kidney
33	chr1:173962200-173989600	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr1:173962200-173989600	Weak transcription	Aorta	Aorta
35	chr1:173962200-173989800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr1:173962200-173990400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:173962400-173974000	Weak transcription	Osteobl	bone
38	chr1:173962400-173974200	Weak transcription	HSMM	muscle
39	chr1:173962400-173974200	Weak transcription	NHEK	skin
40	chr1:173962400-173977400	Weak transcription	Hela-S3	cervix
41	chr1:173962400-173987800	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr1:173962600-173970400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr1:173962600-173974600	Weak transcription	Primary hematopoietic stem cells	blood
44	chr1:173962600-173986000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr1:173962600-173988400	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr1:173962600-173988600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr1:173962600-173989400	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr1:173962800-173989800	Weak transcription	Placenta	Placenta
49	chr1:173963600-173974000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr1:173963800-173975000	Weak transcription	Fetal Muscle Trunk	muscle

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