Variant report

Variant	rs2292222
Chromosome Location	chr3:78699077-78699078
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1032966	1.00[JPT][hapmap]
rs1036445	0.92[ASN][1000 genomes]
rs10511125	1.00[MEX][hapmap]
rs17016391	1.00[EUR][1000 genomes]
rs1995693	1.00[JPT][hapmap]
rs2292223	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2660739	1.00[JPT][hapmap]
rs3773204	1.00[CHB][hapmap]
rs3773213	0.94[ASN][1000 genomes]
rs3773216	1.00[JPT][hapmap]
rs3773217	1.00[JPT][hapmap]
rs41361448	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs56026231	1.00[EUR][1000 genomes]
rs59185069	1.00[EUR][1000 genomes]
rs59263017	1.00[EUR][1000 genomes]
rs61544980	1.00[EUR][1000 genomes]
rs73850726	1.00[EUR][1000 genomes]
rs73850727	1.00[EUR][1000 genomes]
rs73850729	1.00[EUR][1000 genomes]
rs73850733	1.00[EUR][1000 genomes]
rs7619956	1.00[CHB][hapmap];0.92[ASN][1000 genomes]
rs9865887	1.00[EUR][1000 genomes]
rs9865993	1.00[EUR][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	nsv529995	chr3:78188643-78739698	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1008156	chr3:78444137-78765884	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv1010650	chr3:78505564-78699161	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:78647200-78701000	Weak transcription	Spleen	Spleen
2	chr3:78654200-78708800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:78654200-78746600	Weak transcription	NHDF-Ad	bronchial
4	chr3:78654800-78706800	Weak transcription	NHLF	lung
5	chr3:78654800-78711000	Weak transcription	Brain Cingulate Gyrus	brain
6	chr3:78656000-78718600	Weak transcription	Fetal Intestine Large	intestine
7	chr3:78656200-78711000	Weak transcription	Brain Hippocampus Middle	brain
8	chr3:78659400-78704400	Weak transcription	Fetal Intestine Small	intestine
9	chr3:78664000-78710200	Weak transcription	Brain Substantia Nigra	brain
10	chr3:78667200-78702400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr3:78667200-78704400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:78667200-78706600	Weak transcription	Gastric	stomach
13	chr3:78667200-78751200	Weak transcription	Esophagus	oesophagus
14	chr3:78676800-78730600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr3:78679200-78720800	Weak transcription	Aorta	Aorta
16	chr3:78679200-78733200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr3:78679400-78710600	Weak transcription	Brain Anterior Caudate	brain
18	chr3:78679400-78730600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr3:78679400-78736600	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr3:78680400-78704200	Weak transcription	Stomach Smooth Muscle	stomach
21	chr3:78680400-78704400	Weak transcription	Ovary	ovary
22	chr3:78680400-78717800	Weak transcription	Colon Smooth Muscle	Colon
23	chr3:78680400-78723600	Weak transcription	Fetal Muscle Leg	muscle
24	chr3:78680600-78699200	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr3:78682800-78701800	Weak transcription	Fetal Muscle Trunk	muscle
26	chr3:78682800-78715000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr3:78682800-78720200	Weak transcription	Adipose Nuclei	Adipose
28	chr3:78683000-78711000	Weak transcription	Brain Angular Gyrus	brain
29	chr3:78683200-78704400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr3:78689000-78699800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr3:78689000-78702000	Weak transcription	Fetal Stomach	stomach
32	chr3:78689000-78705800	Weak transcription	Primary T cells from cord blood	blood
33	chr3:78693400-78699200	Weak transcription	HepG2	liver
34	chr3:78693400-78705000	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr3:78693400-78730800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr3:78694000-78705200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr3:78694200-78730600	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr3:78694400-78713600	Weak transcription	Fetal Brain Male	brain
39	chr3:78694400-78718400	Weak transcription	Fetal Heart	heart
40	chr3:78694400-78733200	Weak transcription	Fetal Kidney	kidney
41	chr3:78695000-78701000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr3:78695000-78702400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr3:78695000-78711200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr3:78695400-78704400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr3:78695400-78704600	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr3:78695400-78704600	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr3:78695400-78704600	Weak transcription	Fetal Brain Female	brain
48	chr3:78695400-78709800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr3:78695400-78711000	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr3:78696800-78719600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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