Variant report

Variant	rs73025612
Chromosome Location	chr1:173964312-173964313
allele	A/T
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	chr1:173964126-173964345	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:173964310..173967666-chr1:173990049..173993050,6	MCF-7	breast:
2	chr1:173829121..173831364-chr1:173963945..173965806,2	MCF-7	breast:

Variant related genes	Relation type
RC3H1	TF binding region
ENSG00000224977	Chromatin interaction
ENSG00000135870	Chromatin interaction

Extended variants
information (count: 38 )
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]
rs73025620	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:5 , 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
5	esv3692957	chr1:173960747-173967521	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173900000-173966600	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr1:173900000-173968200	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr1:173900200-173966400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:173900400-173964600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:173901600-173966400	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr1:173901600-173966400	Strong transcription	Dnd41	blood
7	chr1:173904000-173966400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:173909800-173974200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:173915600-173977800	Weak transcription	Stomach Mucosa	stomach
10	chr1:173931200-173965600	Weak transcription	Small Intestine	intestine
11	chr1:173931200-173969800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr1:173941000-173965000	Strong transcription	Fetal Thymus	thymus
13	chr1:173942200-173967400	Weak transcription	Fetal Heart	heart
14	chr1:173942200-173986200	Weak transcription	Fetal Brain Male	brain
15	chr1:173947000-173966000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr1:173949200-173970600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr1:173949600-173965600	Weak transcription	Esophagus	oesophagus
18	chr1:173949600-173970600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr1:173950600-173973400	Weak transcription	Psoas Muscle	Psoas
20	chr1:173952200-173967200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr1:173952800-173967600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr1:173953200-173974200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr1:173955600-173966200	Strong transcription	Primary B cells from peripheral blood	blood
24	chr1:173956200-173966400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr1:173958200-173966400	Strong transcription	Fetal Intestine Small	intestine
26	chr1:173958200-173966400	Strong transcription	Fetal Stomach	stomach
27	chr1:173958400-173967200	Weak transcription	NHLF	lung
28	chr1:173958600-173987200	Weak transcription	Gastric	stomach
29	chr1:173960000-173966000	Strong transcription	Adipose Nuclei	Adipose
30	chr1:173960400-173966400	Strong transcription	K562	blood
31	chr1:173960800-173970400	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr1:173962000-173964600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:173962000-173964800	Weak transcription	HUVEC	blood vessel
34	chr1:173962000-173965600	Weak transcription	Brain Hippocampus Middle	brain
35	chr1:173962000-173967400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr1:173962000-173967600	Weak transcription	Brain Cingulate Gyrus	brain
37	chr1:173962000-173975000	Weak transcription	Right Ventricle	heart
38	chr1:173962000-173988400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr1:173962200-173964400	Weak transcription	Primary B cells from cord blood	blood
40	chr1:173962200-173965200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr1:173962200-173965400	Weak transcription	Duodenum Mucosa	Duodenum
42	chr1:173962200-173965400	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr1:173962200-173965600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr1:173962200-173965600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr1:173962200-173965600	Weak transcription	Fetal Muscle Leg	muscle
46	chr1:173962200-173965600	Weak transcription	Left Ventricle	heart
47	chr1:173962200-173965600	Weak transcription	Pancreas	Pancrea
48	chr1:173962200-173965600	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr1:173962200-173965800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr1:173962200-173965800	Weak transcription	Rectal Mucosa Donor 29	rectum

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