Variant report

Variant	rs35053690
Chromosome Location	chr4:129935670-129935671
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10518543	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12648004	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12651152	0.84[EUR][1000 genomes]
rs13106626	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs13111663	0.81[EUR][1000 genomes]
rs13124870	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs13126896	0.92[EUR][1000 genomes]
rs13127992	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13133315	1.00[AFR][1000 genomes]
rs13136209	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13138537	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13139306	0.93[ASN][1000 genomes]
rs17014149	0.93[ASN][1000 genomes]
rs17014190	0.82[ASN][1000 genomes]
rs17184802	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2068135	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2068136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28643269	0.82[ASN][1000 genomes]
rs33999735	0.96[ASN][1000 genomes]
rs34044129	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34302928	0.93[ASN][1000 genomes]
rs34483420	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs35002630	0.92[EUR][1000 genomes]
rs35128288	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35149191	0.96[ASN][1000 genomes]
rs35199409	0.93[ASN][1000 genomes]
rs35259423	0.85[AMR][1000 genomes]
rs35349408	0.96[EUR][1000 genomes]
rs35388412	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35412182	0.89[ASN][1000 genomes]
rs36000518	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36101862	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36124477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36128858	0.96[ASN][1000 genomes]
rs71612197	0.92[EUR][1000 genomes]
rs71612199	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71613905	0.96[ASN][1000 genomes]
rs71613907	0.96[ASN][1000 genomes]
rs71613908	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71613914	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv1026938	chr4:129770961-129936205	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv1030513	chr4:129770961-129965026	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv870175	chr4:129771718-129937945	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv1026772	chr4:129773881-129936205	ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv534538	chr4:129799138-130431688	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv522694	chr4:129862073-129994690	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129906200-129935800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr4:129911400-129936800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:129917400-129935800	Weak transcription	Pancreas	Pancrea
4	chr4:129917400-129936000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:129917400-129936200	Weak transcription	Left Ventricle	heart
6	chr4:129917400-129942400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr4:129920600-129936000	Weak transcription	Fetal Thymus	thymus
8	chr4:129930200-129935800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr4:129930800-129936200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr4:129931200-129935800	Weak transcription	Thymus	Thymus
11	chr4:129931600-129936000	Weak transcription	Colonic Mucosa	Colon
12	chr4:129932000-129944000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr4:129932200-129947000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr4:129933200-129936000	Weak transcription	Adipose Nuclei	Adipose
15	chr4:129933200-129942200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr4:129933400-129942000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:129933400-129942000	Weak transcription	Primary B cells from peripheral blood	blood
18	chr4:129933800-129937400	Weak transcription	NHEK	skin
19	chr4:129934000-129942400	Weak transcription	Brain Hippocampus Middle	brain
20	chr4:129934200-129936000	Weak transcription	NHLF	lung
21	chr4:129934200-129942600	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr4:129934200-129944200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr4:129934400-129935800	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr4:129934400-129936000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr4:129934400-129936000	Weak transcription	Right Ventricle	heart
26	chr4:129934400-129936400	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr4:129934600-129935800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr4:129934600-129944200	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr4:129934600-129944200	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr4:129935000-129942200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr4:129935200-129935800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr4:129935200-129935800	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr4:129935400-129936000	Weak transcription	Spleen	Spleen
34	chr4:129935400-129937000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
35	chr4:129935400-129937000	ZNF genes & repeats	Fetal Muscle Trunk	muscle
36	chr4:129935400-129937200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr4:129935400-129937200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
38	chr4:129935400-129937800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr4:129935400-129937800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr4:129935600-129935800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr4:129935600-129935800	ZNF genes & repeats	Fetal Lung	lung
42	chr4:129935600-129935800	ZNF genes & repeats	A549	lung
43	chr4:129935600-129936000	Weak transcription	Primary B cells from cord blood	blood
44	chr4:129935600-129936400	Enhancers	HSMM	muscle
45	chr4:129935600-129936800	Weak transcription	Brain Angular Gyrus	brain
46	chr4:129935600-129936800	Genic enhancers	Dnd41	blood
47	chr4:129935600-129937000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
48	chr4:129935600-129937000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr4:129935600-129937000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr4:129935600-129937000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin

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