Variant report

Variant	rs7593710
Chromosome Location	chr2:152270263-152270264
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:152262551..152270893-chr2:152273971..152280003,13	K562	blood:
2	chr2:152260866..152263147-chr2:152268349..152271091,2	K562	blood:
3	chr2:152270230..152272767-chr2:152284847..152286605,2	K562	blood:
4	chr2:152265525..152267360-chr2:152270009..152272333,3	MCF-7	breast:
5	chr2:152268664..152271043-chr2:152277854..152280826,3	MCF-7	breast:
6	chr2:152265555..152269116-chr2:152269782..152271930,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000080345	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11896481	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16830019	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16830036	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16830047	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16830059	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16830061	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16830067	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16830086	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16830090	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16830096	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16830159	0.84[EUR][1000 genomes]
rs1993206	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3732308	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4468813	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4491723	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4494741	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55654831	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs55900984	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55982073	0.84[AMR][1000 genomes]
rs56898485	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62169373	0.90[ASN][1000 genomes]
rs62169374	0.86[ASN][1000 genomes]
rs62169378	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62169380	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62169382	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62169384	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62169385	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62169386	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6726640	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6733645	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6742953	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72860229	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72860230	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72860235	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72860236	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7422009	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7598855	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693426	chr2:151725792-152295862	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1012891	chr2:152019809-152306897	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv1013484	chr2:152028515-152473913	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv535983	chr2:152028515-152473913	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv1012139	chr2:152114637-152389516	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh 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 miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv1011339	chr2:152114637-152392940	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv999748	chr2:152135514-152476396	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers 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	12 gene(s)	inside rSNPs	diseases
8	nsv834418	chr2:152205803-152385516	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 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	chr2:152267400-152276200	Weak transcription	Spleen	Spleen
2	chr2:152267600-152274800	Weak transcription	Thymus	Thymus
3	chr2:152267600-152276600	Weak transcription	Psoas Muscle	Psoas
4	chr2:152267600-152277400	Weak transcription	HSMMtube	muscle
5	chr2:152267600-152287000	Weak transcription	Colonic Mucosa	Colon
6	chr2:152267600-152379400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:152267800-152275600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr2:152267800-152276000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:152267800-152276200	Weak transcription	Aorta	Aorta
10	chr2:152267800-152276200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr2:152267800-152340400	Weak transcription	Stomach Mucosa	stomach
12	chr2:152268000-152270600	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr2:152268000-152273400	Weak transcription	Colon Smooth Muscle	Colon
14	chr2:152268000-152274000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr2:152268000-152342800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:152268200-152270600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
17	chr2:152268200-152270600	Genic enhancers	HepG2	liver
18	chr2:152268200-152272600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr2:152268200-152273400	Strong transcription	NHDF-Ad	bronchial
20	chr2:152268200-152276200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr2:152268200-152276200	Weak transcription	Fetal Brain Male	brain
22	chr2:152268200-152276800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:152268200-152278200	Strong transcription	HSMM	muscle
24	chr2:152268200-152278600	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr2:152268200-152279200	Weak transcription	Small Intestine	intestine
26	chr2:152268200-152279800	Strong transcription	Primary B cells from peripheral blood	blood
27	chr2:152268200-152282000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:152268200-152284200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:152268200-152303000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:152268200-152319400	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr2:152268200-152320800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr2:152268200-152327800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr2:152268200-152328400	Strong transcription	H1 Cell Line	embryonic stem cell
34	chr2:152268200-152328600	Strong transcription	Fetal Thymus	thymus
35	chr2:152268400-152270400	Strong transcription	Fetal Muscle Trunk	muscle
36	chr2:152268400-152270800	Strong transcription	NH-A	brain
37	chr2:152268400-152271000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr2:152268400-152271600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr2:152268400-152271600	Strong transcription	NHEK	skin
40	chr2:152268400-152274200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr2:152268400-152274600	Strong transcription	Placenta	Placenta
42	chr2:152268400-152274600	Strong transcription	NHLF	lung
43	chr2:152268400-152280600	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr2:152268400-152282600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr2:152268400-152282600	Strong transcription	Osteobl	bone
46	chr2:152268400-152283200	Strong transcription	Duodenum Mucosa	Duodenum
47	chr2:152268400-152298200	Strong transcription	Fetal Intestine Large	intestine
48	chr2:152268400-152327800	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr2:152268600-152270600	Strong transcription	H9 Cell Line	embryonic stem cell
50	chr2:152268600-152272400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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