Variant report

Variant	rs72788354
Chromosome Location	chr2:10332503-10332504
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:10260909..10263628-chr2:10332391..10334618,3	K562	blood:
2	chr2:10261562..10263628-chr2:10332391..10333942,2	K562	blood:

Variant related genes	Relation type
ENSG00000171848	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10187710	0.85[EUR][1000 genomes]
rs10205991	1.00[ASN][1000 genomes]
rs1035120	0.99[ASN][1000 genomes]
rs11891059	0.83[ASN][1000 genomes]
rs13403621	0.91[ASN][1000 genomes]
rs17379350	0.89[ASN][1000 genomes]
rs4550641	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4630742	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4669544	0.86[ASN][1000 genomes]
rs55642251	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55728000	0.99[ASN][1000 genomes]
rs60537578	0.98[EUR][1000 genomes]
rs6711940	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6718918	0.99[ASN][1000 genomes]
rs72786692	0.89[ASN][1000 genomes]
rs72786699	0.91[ASN][1000 genomes]
rs72786701	0.91[ASN][1000 genomes]
rs72788303	0.92[ASN][1000 genomes]
rs72788304	0.93[ASN][1000 genomes]
rs72788306	0.91[ASN][1000 genomes]
rs72788307	0.93[ASN][1000 genomes]
rs72788313	0.99[ASN][1000 genomes]
rs72788315	0.99[ASN][1000 genomes]
rs72788320	0.99[ASN][1000 genomes]
rs72788324	0.99[ASN][1000 genomes]
rs72788326	0.99[ASN][1000 genomes]
rs72788352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7566844	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7584303	0.99[ASN][1000 genomes]
rs7593918	0.87[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	nsv873634	chr2:10275814-10337034	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
2	nsv873635	chr2:10286466-10344465	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
3	esv3340132	chr2:10328101-10332799	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
4	esv3372133	chr2:10328701-10332599	Weak transcription Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10290200-10351400	Strong transcription	Dnd41	blood
2	chr2:10302400-10337600	Weak transcription	Duodenum Mucosa	Duodenum
3	chr2:10304400-10339800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr2:10311800-10337000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:10313000-10344400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:10314000-10340400	Weak transcription	HepG2	liver
7	chr2:10320600-10337200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:10320800-10336800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:10321800-10333400	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr2:10321800-10338000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:10325400-10333000	Weak transcription	Fetal Lung	lung
12	chr2:10325600-10342800	Weak transcription	Fetal Brain Female	brain
13	chr2:10326600-10339400	Strong transcription	Thymus	Thymus
14	chr2:10327600-10333600	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr2:10328000-10333400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:10328200-10336600	Weak transcription	Brain Germinal Matrix	brain
17	chr2:10328400-10332600	Weak transcription	Fetal Muscle Leg	muscle
18	chr2:10328800-10336600	Weak transcription	Gastric	stomach
19	chr2:10329000-10337200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr2:10329800-10333600	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr2:10330800-10334000	Weak transcription	Fetal Kidney	kidney
22	chr2:10331000-10332800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr2:10331400-10332800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr2:10331800-10333600	Weak transcription	Fetal Thymus	thymus
25	chr2:10331800-10333800	Weak transcription	Spleen	Spleen
26	chr2:10332000-10333200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr2:10332000-10333400	Bivalent Enhancer	Fetal Stomach	stomach
28	chr2:10332000-10333800	Weak transcription	Esophagus	oesophagus
29	chr2:10332000-10337400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
30	chr2:10332200-10334400	Weak transcription	Fetal Intestine Small	intestine
31	chr2:10332400-10332600	Enhancers	Right Ventricle	heart
32	chr2:10332400-10333000	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr2:10332400-10333000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr2:10332400-10335200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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