Variant report

Variant	rs72788315
Chromosome Location	chr2:10319202-10319203
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:10318881..10321554-chr2:10323338..10324897,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10205991	0.99[ASN][1000 genomes]
rs1035120	1.00[ASN][1000 genomes]
rs11891059	0.84[ASN][1000 genomes]
rs13403621	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17379350	0.91[ASN][1000 genomes]
rs4550641	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4630742	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4669544	0.84[ASN][1000 genomes]
rs55642251	1.00[ASN][1000 genomes]
rs55728000	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6711940	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6718918	1.00[ASN][1000 genomes]
rs72786692	0.91[ASN][1000 genomes]
rs72786699	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72786701	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72788303	0.93[ASN][1000 genomes]
rs72788304	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72788306	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72788307	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72788313	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72788320	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72788324	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72788326	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72788352	0.99[ASN][1000 genomes]
rs72788354	0.99[ASN][1000 genomes]
rs7566844	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7584303	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7593918	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv873636	chr2:10300390-10331919	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10273800-10330400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr2:10277600-10321600	Weak transcription	K562	blood
3	chr2:10286400-10331400	Weak transcription	Spleen	Spleen
4	chr2:10290200-10351400	Strong transcription	Dnd41	blood
5	chr2:10302400-10337600	Weak transcription	Duodenum Mucosa	Duodenum
6	chr2:10304400-10339800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr2:10308200-10324600	Weak transcription	Fetal Lung	lung
8	chr2:10311000-10320000	Weak transcription	Fetal Muscle Leg	muscle
9	chr2:10311800-10331200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr2:10311800-10337000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:10312800-10326800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:10313000-10320000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:10313000-10320000	Weak transcription	Fetal Muscle Trunk	muscle
14	chr2:10313000-10321000	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr2:10313000-10327000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr2:10313000-10344400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr2:10313200-10320800	Weak transcription	Fetal Stomach	stomach
18	chr2:10313200-10327400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr2:10313800-10320000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr2:10314000-10340400	Weak transcription	HepG2	liver
21	chr2:10314400-10320400	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr2:10316800-10319800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr2:10317000-10320600	Weak transcription	Fetal Thymus	thymus
24	chr2:10318600-10320200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:10318600-10321600	Strong transcription	Thymus	Thymus
26	chr2:10318600-10323600	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr2:10318800-10320200	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr2:10319000-10320800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr2:10319000-10320800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr2:10319200-10323200	Weak transcription	A549	lung
31	chr2:10319200-10326800	Weak transcription	Fetal Intestine Small	intestine

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