Variant report

Variant	rs34002644
Chromosome Location	chr3:119720980-119720981
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1037974	1.00[ASN][1000 genomes]
rs13314836	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13322562	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17246730	1.00[ASN][1000 genomes]
rs17246737	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1903764	1.00[ASN][1000 genomes]
rs28821007	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4491944	1.00[ASN][1000 genomes]
rs57027844	1.00[ASN][1000 genomes]
rs57132942	1.00[ASN][1000 genomes]
rs58299321	1.00[ASN][1000 genomes]
rs58371446	1.00[ASN][1000 genomes]
rs58991487	1.00[ASN][1000 genomes]
rs59368677	1.00[ASN][1000 genomes]
rs59703574	0.86[ASN][1000 genomes]
rs60049973	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60325644	1.00[ASN][1000 genomes]
rs60993278	1.00[ASN][1000 genomes]
rs61188334	1.00[ASN][1000 genomes]
rs61511292	1.00[ASN][1000 genomes]
rs61566983	1.00[ASN][1000 genomes]
rs6796550	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs922337	1.00[ASN][1000 genomes]
rs9812149	0.98[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9834346	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9843795	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9849889	0.93[AFR][1000 genomes]
rs9853463	0.93[AFR][1000 genomes]
rs9865193	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9867915	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9872321	0.93[AFR][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:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119681200-119723200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr3:119689000-119722600	Weak transcription	Gastric	stomach
3	chr3:119692400-119723200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr3:119693600-119732200	Weak transcription	A549	lung
5	chr3:119700600-119722800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr3:119701000-119722600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr3:119709000-119722600	Weak transcription	Ovary	ovary
8	chr3:119709200-119723000	Weak transcription	Spleen	Spleen
9	chr3:119710200-119722600	Weak transcription	Stomach Mucosa	stomach
10	chr3:119710200-119730800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr3:119710400-119722800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr3:119711400-119729200	Weak transcription	Colon Smooth Muscle	Colon
13	chr3:119711800-119722800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr3:119711800-119723200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr3:119712000-119723400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr3:119712000-119732200	Weak transcription	HepG2	liver
17	chr3:119712200-119723400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr3:119712200-119732400	Weak transcription	NHLF	lung
19	chr3:119712400-119722800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr3:119712600-119745000	Weak transcription	Hela-S3	cervix
21	chr3:119712800-119722000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr3:119712800-119722800	Weak transcription	Thymus	Thymus
23	chr3:119712800-119723400	Weak transcription	Osteobl	bone
24	chr3:119712800-119732200	Weak transcription	Duodenum Mucosa	Duodenum
25	chr3:119713000-119722000	Weak transcription	Psoas Muscle	Psoas
26	chr3:119713000-119722800	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr3:119713200-119744400	Weak transcription	Fetal Kidney	kidney
28	chr3:119713800-119722600	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr3:119714400-119722600	Weak transcription	Brain Angular Gyrus	brain
30	chr3:119714400-119723000	Weak transcription	Fetal Brain Male	brain
31	chr3:119715600-119722800	Weak transcription	Stomach Smooth Muscle	stomach
32	chr3:119715800-119722600	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr3:119716400-119721000	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr3:119716400-119722000	Weak transcription	K562	blood
35	chr3:119716400-119722600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr3:119716600-119721000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr3:119716600-119721000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr3:119716800-119721200	Strong transcription	Primary hematopoietic stem cells	blood
39	chr3:119716800-119722000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr3:119717000-119721000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr3:119717000-119721000	Strong transcription	Fetal Lung	lung
42	chr3:119717000-119721200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr3:119717000-119721200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr3:119717000-119721200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr3:119717000-119722800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr3:119717400-119721200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr3:119717400-119721200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr3:119717400-119721800	Weak transcription	Aorta	Aorta
49	chr3:119717400-119722000	Weak transcription	Small Intestine	intestine
50	chr3:119717400-119722600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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