Variant report

Variant	rs34568901
Chromosome Location	chr3:138116680-138116681
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SMC3	chr3:138116613-138117167	SK-N-SH	brain:	n/a	chr3:138116951-138116965

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:138050301..138052204-chr3:138116487..138117341,9	MCF-7	breast:

Variant related genes	Relation type
MRAS	TF binding region

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1092338	0.88[EUR][1000 genomes]
rs1199330	0.88[EUR][1000 genomes]
rs12695685	1.00[ASN][1000 genomes]
rs13074317	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13079209	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13080413	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13083299	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13096934	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1678440	0.88[EUR][1000 genomes]
rs1720819	0.88[EUR][1000 genomes]
rs2279241	1.00[ASN][1000 genomes]
rs2291127	1.00[ASN][1000 genomes]
rs2293251	1.00[ASN][1000 genomes]
rs2306374	1.00[ASN][1000 genomes]
rs2347252	1.00[ASN][1000 genomes]
rs34078858	0.84[ASN][1000 genomes]
rs34140440	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34905952	0.88[AFR][1000 genomes]
rs3732837	1.00[ASN][1000 genomes]
rs3773750	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59217491	0.84[ASN][1000 genomes]
rs9818870	1.00[ASN][1000 genomes]
rs9848655	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9851766	1.00[ASN][1000 genomes]
rs9864898	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9872754	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530056	chr3:137312356-138161861	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv877537	chr3:137979007-138215114	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv530057	chr3:138014877-138734390	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv528349	chr3:138025396-138132393	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv1796956	chr3:138051423-138122781	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv1848610	chr3:138051423-138133412	Bivalent Enhancer Genic enhancers Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv1797142	chr3:138087467-138122781	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv1845560	chr3:138087467-138133412	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv3447663	chr3:138096329-138273034	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv460864	chr3:138100539-138194435	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
11	nsv591853	chr3:138100539-138194435	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
12	nsv526089	chr3:138106698-138122781	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138090400-138119400	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr3:138101400-138123000	Weak transcription	Fetal Lung	lung
3	chr3:138101600-138120400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr3:138109000-138116800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr3:138109200-138116800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr3:138109200-138119600	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr3:138109400-138116800	Weak transcription	Stomach Smooth Muscle	stomach
8	chr3:138109400-138119600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:138109600-138117200	Weak transcription	Pancreas	Pancrea
10	chr3:138109600-138120600	Weak transcription	Colon Smooth Muscle	Colon
11	chr3:138109600-138123000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr3:138109600-138124400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr3:138109800-138117200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr3:138109800-138118800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr3:138109800-138119600	Weak transcription	Placenta	Placenta
16	chr3:138109800-138123000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr3:138109800-138124800	Weak transcription	NHLF	lung
18	chr3:138109800-138131400	Weak transcription	NHDF-Ad	bronchial
19	chr3:138110200-138117200	Weak transcription	Osteobl	bone
20	chr3:138110200-138120200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr3:138110200-138121400	Weak transcription	NH-A	brain
22	chr3:138113000-138116800	Enhancers	Adipose Nuclei	Adipose
23	chr3:138113000-138118000	Enhancers	Fetal Heart	heart
24	chr3:138113000-138118600	Strong transcription	HSMMtube	muscle
25	chr3:138113400-138117200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr3:138114000-138117000	Weak transcription	Fetal Muscle Trunk	muscle
27	chr3:138114000-138126200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr3:138114400-138116800	Enhancers	Brain Substantia Nigra	brain
29	chr3:138114800-138124600	Strong transcription	Fetal Stomach	stomach
30	chr3:138115000-138118000	Weak transcription	Spleen	Spleen
31	chr3:138115200-138117000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr3:138115200-138120000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
33	chr3:138115200-138121000	Weak transcription	Brain Angular Gyrus	brain
34	chr3:138115400-138117200	Weak transcription	Brain Hippocampus Middle	brain
35	chr3:138115400-138117200	Weak transcription	Lung	lung
36	chr3:138115400-138122600	Weak transcription	Colonic Mucosa	Colon
37	chr3:138115600-138117000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr3:138115600-138117000	Weak transcription	Psoas Muscle	Psoas
39	chr3:138115600-138117200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr3:138115600-138119000	Genic enhancers	Right Ventricle	heart
41	chr3:138115600-138120000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr3:138115600-138120600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr3:138115800-138118000	Strong transcription	Gastric	stomach
44	chr3:138115800-138119200	Strong transcription	Fetal Muscle Leg	muscle
45	chr3:138115800-138120400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr3:138115800-138125200	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr3:138116000-138117000	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr3:138116000-138117000	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr3:138116000-138117800	Weak transcription	Ovary	ovary
50	chr3:138116000-138120200	Weak transcription	HUES6 Cell Line	embryonic stem cell

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