Variant report

Variant	rs34319994
Chromosome Location	chr3:120414785-120414786
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11708525	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11708642	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11712360	0.83[ASN][1000 genomes]
rs11713594	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11714216	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11718363	0.80[ASN][1000 genomes]
rs11719207	0.87[ASN][1000 genomes]
rs11719896	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11720353	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11720614	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17183618	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17184204	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17243218	0.88[ASN][1000 genomes]
rs17243933	0.83[ASN][1000 genomes]
rs2059331	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2229308	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2292170	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2877413	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34565470	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41365345	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55663109	0.80[ASN][1000 genomes]
rs55697401	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55869122	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs56140323	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56267829	0.88[ASN][1000 genomes]
rs6438590	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6769985	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6779005	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73183728	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73183730	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7637037	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7647895	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007557	chr3:119892894-120764353	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv536706	chr3:119892894-120764353	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv1006428	chr3:120015620-120421982	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	esv3369381	chr3:120066425-120425510	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	esv3350409	chr3:120066445-120425480	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	esv3373301	chr3:120273762-120421260	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
7	nsv877377	chr3:120287683-120426750	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
8	esv3464294	chr3:120303062-120420810	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
9	esv3464295	chr3:120303062-120420810	Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
10	nsv829699	chr3:120308332-120484695	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
11	nsv869548	chr3:120320731-121076337	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
12	nsv916869	chr3:120360281-120973169	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
13	nsv877378	chr3:120381530-120606438	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120397600-120421600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr3:120397800-120415800	Weak transcription	Ovary	ovary
3	chr3:120397800-120420600	Weak transcription	Primary B cells from cord blood	blood
4	chr3:120397800-120421800	Weak transcription	Aorta	Aorta
5	chr3:120397800-120424800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr3:120398200-120415200	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr3:120398200-120423200	Weak transcription	Psoas Muscle	Psoas
8	chr3:120398200-120427000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr3:120398200-120427800	Weak transcription	Placenta	Placenta
10	chr3:120398200-120430200	Weak transcription	NHEK	skin
11	chr3:120398200-120438000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr3:120398800-120442200	Weak transcription	Fetal Muscle Leg	muscle
13	chr3:120400200-120421600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr3:120401000-120424800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr3:120402400-120423600	Weak transcription	Lung	lung
16	chr3:120402600-120420800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr3:120402800-120421800	Weak transcription	Fetal Kidney	kidney
18	chr3:120402800-120456600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr3:120403600-120423800	Weak transcription	Spleen	Spleen
20	chr3:120404000-120415600	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr3:120404000-120423600	Weak transcription	Pancreas	Pancrea
22	chr3:120404200-120416000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr3:120404800-120421800	Weak transcription	HSMM	muscle
24	chr3:120405600-120436800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr3:120406000-120415400	Weak transcription	Left Ventricle	heart
26	chr3:120406000-120421800	Weak transcription	Dnd41	blood
27	chr3:120406400-120415200	Weak transcription	Fetal Muscle Trunk	muscle
28	chr3:120406400-120436600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr3:120406600-120421800	Weak transcription	Colon Smooth Muscle	Colon
30	chr3:120406800-120421200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr3:120407000-120417600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr3:120407000-120421800	Weak transcription	Thymus	Thymus
33	chr3:120407200-120422000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr3:120408400-120421800	Weak transcription	Fetal Thymus	thymus
35	chr3:120408400-120429400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr3:120408600-120414800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr3:120408600-120427400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr3:120408800-120415200	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr3:120408800-120416000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr3:120408800-120416200	Weak transcription	GM12878-XiMat	blood
41	chr3:120408800-120421600	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr3:120409000-120421200	Weak transcription	Fetal Stomach	stomach
43	chr3:120409200-120415600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr3:120410800-120420600	Weak transcription	Primary T cells from cord blood	blood
45	chr3:120411000-120422800	Weak transcription	Fetal Lung	lung
46	chr3:120411000-120436600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr3:120411800-120415000	Enhancers	HepG2	liver
48	chr3:120412200-120415600	Weak transcription	Duodenum Mucosa	Duodenum
49	chr3:120412400-120418400	Weak transcription	Brain Cingulate Gyrus	brain
50	chr3:120412600-120415600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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