Variant report

Variant	rs7613197
Chromosome Location	chr3:119740940-119740941
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1154596	0.84[ASN][1000 genomes]
rs1154597	0.84[ASN][1000 genomes]
rs11921053	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12494560	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs13312998	0.84[ASN][1000 genomes]
rs13314595	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1579031	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16830689	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1719889	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs2461827	0.81[EUR][1000 genomes]
rs28516957	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs334535	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs334536	0.98[EUR][1000 genomes]
rs334559	0.92[AFR][1000 genomes];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs334560	0.98[EUR][1000 genomes]
rs334566	0.98[EUR][1000 genomes]
rs3853592	0.84[ASN][1000 genomes]
rs4072520	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4450859	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs56126162	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58043853	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs60272712	0.84[ASN][1000 genomes]
rs6438554	0.84[ASN][1000 genomes]
rs6438555	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs66650215	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6762640	0.84[ASN][1000 genomes]
rs6769435	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6770314	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6771023	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6774693	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6775397	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6779828	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6784239	0.84[ASN][1000 genomes]
rs6785050	0.84[ASN][1000 genomes]
rs6790751	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs6795874	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6802301	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6807868	0.84[ASN][1000 genomes]
rs7617372	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7620750	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7624540	0.81[EUR][1000 genomes]
rs7635604	0.84[ASN][1000 genomes]
rs7636600	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7649661	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7652172	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9289138	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs968824	0.98[EUR][1000 genomes]
rs9851174	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9859778	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9879992	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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	nsv949589	chr3:119560606-120175917	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1001476	chr3:119575386-120075417	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
3	nsv536704	chr3:119575386-120075417	Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119712600-119745000	Weak transcription	Hela-S3	cervix
2	chr3:119713200-119744400	Weak transcription	Fetal Kidney	kidney
3	chr3:119720200-119741000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr3:119724000-119741400	Weak transcription	Thymus	Thymus
5	chr3:119730000-119743000	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr3:119730000-119743000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr3:119730600-119741600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr3:119731000-119741400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr3:119731400-119752400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr3:119732200-119747200	Weak transcription	Gastric	stomach
11	chr3:119732200-119747600	Weak transcription	Right Ventricle	heart
12	chr3:119732600-119741600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr3:119732600-119748400	Weak transcription	Brain Angular Gyrus	brain
14	chr3:119732600-119748600	Weak transcription	HSMM	muscle
15	chr3:119732600-119757800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr3:119732800-119746200	Weak transcription	Fetal Lung	lung
17	chr3:119732800-119749200	Weak transcription	Fetal Stomach	stomach
18	chr3:119733000-119747400	Weak transcription	Right Atrium	heart
19	chr3:119733200-119744200	Weak transcription	Primary hematopoietic stem cells	blood
20	chr3:119733400-119741600	Weak transcription	Osteobl	bone
21	chr3:119734200-119741000	Weak transcription	Primary T cells from cord blood	blood
22	chr3:119734800-119750000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr3:119735000-119751600	Weak transcription	Primary B cells from cord blood	blood
24	chr3:119735200-119741000	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr3:119735200-119742800	Weak transcription	Fetal Brain Female	brain
26	chr3:119735800-119744400	Weak transcription	HMEC	breast
27	chr3:119736000-119746400	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr3:119736600-119744000	Weak transcription	Fetal Intestine Small	intestine
29	chr3:119737000-119741400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr3:119737000-119749400	Weak transcription	Stomach Mucosa	stomach
31	chr3:119737000-119751800	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr3:119737400-119741600	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr3:119737400-119741600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr3:119737400-119744600	Weak transcription	HepG2	liver
35	chr3:119737400-119751800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr3:119737400-119754000	Weak transcription	Small Intestine	intestine
37	chr3:119737600-119743000	Weak transcription	Spleen	Spleen
38	chr3:119737800-119757200	Weak transcription	A549	lung
39	chr3:119738400-119744800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr3:119738400-119747000	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr3:119738600-119741600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr3:119738600-119743600	Weak transcription	Fetal Intestine Large	intestine
43	chr3:119738600-119747000	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr3:119738800-119741000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr3:119738800-119746400	Weak transcription	Fetal Heart	heart
46	chr3:119739000-119741000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr3:119739000-119741400	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr3:119739000-119742000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr3:119739200-119741600	Weak transcription	Dnd41	blood
50	chr3:119739200-119742600	Enhancers	Primary T helper cells fromperipheralblood	blood

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