Variant report

Variant	rs4711417
Chromosome Location	chr6:35447913-35447914
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1076655	0.94[ASN][1000 genomes]
rs11756089	0.94[ASN][1000 genomes]
rs11758353	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2072887	0.84[ASN][1000 genomes]
rs2076171	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3800379	0.84[ASN][1000 genomes]
rs41270066	0.97[ASN][1000 genomes]
rs41270070	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs45454199	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45464000	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs45472598	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45624039	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4713863	0.84[ASN][1000 genomes]
rs4713866	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4713870	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4713871	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4713872	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6935950	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528351	chr6:35377922-35465786	Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	69 gene(s)	inside rSNPs	diseases
2	nsv462908	chr6:35378778-35457396	Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
3	nsv602910	chr6:35378778-35457396	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
4	nsv519370	chr6:35378778-35537406	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	72 gene(s)	inside rSNPs	diseases
5	nsv984463	chr6:35432948-35477634	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35437600-35449200	Strong transcription	Aorta	Aorta
2	chr6:35437800-35451000	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr6:35438000-35455800	Weak transcription	Brain Angular Gyrus	brain
4	chr6:35438200-35458000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr6:35438400-35449600	Strong transcription	Gastric	stomach
6	chr6:35438800-35448200	Strong transcription	Right Ventricle	heart
7	chr6:35439200-35448200	Strong transcription	Lung	lung
8	chr6:35439200-35452400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr6:35439200-35452600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr6:35439200-35453000	Weak transcription	Fetal Kidney	kidney
11	chr6:35439400-35452600	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr6:35439800-35452600	Strong transcription	Fetal Intestine Small	intestine
13	chr6:35440000-35452400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr6:35440200-35448200	Strong transcription	Ovary	ovary
15	chr6:35440200-35452200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:35440200-35452400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr6:35440200-35457200	Weak transcription	Psoas Muscle	Psoas
18	chr6:35440400-35449400	Strong transcription	Skeletal Muscle Male	skeletal muscle
19	chr6:35440400-35452400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr6:35440400-35452400	Weak transcription	Hela-S3	cervix
21	chr6:35440400-35452600	Strong transcription	NHLF	lung
22	chr6:35440400-35452800	Strong transcription	Fetal Stomach	stomach
23	chr6:35440400-35453000	Strong transcription	Fetal Intestine Large	intestine
24	chr6:35440400-35455600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr6:35440600-35448600	Strong transcription	Liver	Liver
26	chr6:35440600-35455800	Weak transcription	Primary B cells from cord blood	blood
27	chr6:35440800-35452600	Weak transcription	NHDF-Ad	bronchial
28	chr6:35441200-35448200	Weak transcription	K562	blood
29	chr6:35441200-35452600	Weak transcription	A549	lung
30	chr6:35441400-35450200	Strong transcription	Colon Smooth Muscle	Colon
31	chr6:35441400-35452200	Weak transcription	HSMM	muscle
32	chr6:35441400-35452400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr6:35441400-35452400	Weak transcription	HMEC	breast
34	chr6:35441400-35452800	Weak transcription	HUVEC	blood vessel
35	chr6:35441800-35448200	Strong transcription	Left Ventricle	heart
36	chr6:35441800-35448400	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr6:35441800-35451200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr6:35441800-35458200	Weak transcription	Brain Substantia Nigra	brain
39	chr6:35442400-35450400	Strong transcription	Fetal Muscle Leg	muscle
40	chr6:35442400-35451800	Strong transcription	Placenta Amnion	Placenta Amnion
41	chr6:35442600-35450200	Strong transcription	Fetal Muscle Trunk	muscle
42	chr6:35442600-35451400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr6:35442800-35452800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr6:35443000-35449200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr6:35443000-35450200	Strong transcription	Stomach Smooth Muscle	stomach
46	chr6:35443200-35448400	Weak transcription	Right Atrium	heart
47	chr6:35443200-35450800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr6:35443200-35458000	Weak transcription	Brain Anterior Caudate	brain
49	chr6:35443400-35449600	Weak transcription	Brain Cingulate Gyrus	brain
50	chr6:35443600-35451000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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