Variant report

Variant	rs10248135
Chromosome Location	chr7:79841175-79841176
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10234223	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10241877	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10247757	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10276981	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10278243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706718	0.84[ASN][1000 genomes]
rs12721455	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17245731	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2366255	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs28647788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3801357	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4731273	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67096317	0.89[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs73151419	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[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	nsv429785	chr7:79589749-80177049	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1024312	chr7:79832637-80004812	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1029180	chr7:79832637-80017560	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79807800-79842000	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr7:79809600-79847600	Weak transcription	HUVEC	blood vessel
3	chr7:79811600-79845000	Weak transcription	Primary T cells from cord blood	blood
4	chr7:79814200-79842600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:79815000-79848200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr7:79815000-79850200	Weak transcription	Lung	lung
7	chr7:79815200-79859600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr7:79816200-79846800	Weak transcription	Esophagus	oesophagus
9	chr7:79816400-79854800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:79817000-79842400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:79817000-79851200	Weak transcription	Aorta	Aorta
12	chr7:79820600-79847000	Weak transcription	NHLF	lung
13	chr7:79820600-79853800	Weak transcription	Left Ventricle	heart
14	chr7:79825000-79847400	Weak transcription	Pancreas	Pancrea
15	chr7:79825200-79844000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr7:79825400-79856600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr7:79827000-79842600	Weak transcription	Duodenum Mucosa	Duodenum
18	chr7:79827400-79842200	Weak transcription	NH-A	brain
19	chr7:79828000-79845600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr7:79828200-79842200	Weak transcription	Stomach Smooth Muscle	stomach
21	chr7:79829200-79846000	Weak transcription	Right Ventricle	heart
22	chr7:79829200-79853000	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr7:79829400-79845800	Weak transcription	Psoas Muscle	Psoas
24	chr7:79829600-79841200	Weak transcription	Fetal Muscle Leg	muscle
25	chr7:79830600-79842400	Weak transcription	Fetal Kidney	kidney
26	chr7:79830800-79848400	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr7:79831000-79848200	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr7:79831000-79853800	Weak transcription	Gastric	stomach
29	chr7:79831600-79850800	Weak transcription	Fetal Stomach	stomach
30	chr7:79831800-79861200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr7:79832400-79855000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr7:79834000-79841200	Weak transcription	Brain Germinal Matrix	brain
33	chr7:79834000-79850600	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr7:79834600-79841400	Weak transcription	Fetal Brain Female	brain
35	chr7:79835200-79842000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr7:79836000-79859600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr7:79836600-79861000	Weak transcription	HSMMtube	muscle
38	chr7:79837800-79847600	Strong transcription	Primary hematopoietic stem cells	blood
39	chr7:79838000-79849400	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr7:79838400-79842600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr7:79838600-79842600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr7:79838800-79850400	Weak transcription	Rectal Smooth Muscle	rectum
43	chr7:79839000-79841200	Weak transcription	HMEC	breast
44	chr7:79839000-79842400	Weak transcription	Brain Angular Gyrus	brain
45	chr7:79839000-79845200	Weak transcription	NHEK	skin
46	chr7:79839200-79846800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr7:79839600-79843600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr7:79839600-79850200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr7:79839800-79844000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr7:79839800-79845800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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