Variant report

Variant	rs11941296
Chromosome Location	chr4:126396856-126396857
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10010000	1.00[AFR][1000 genomes]
rs10021774	0.87[AFR][1000 genomes]
rs10025691	0.87[AFR][1000 genomes]
rs10025821	1.00[AFR][1000 genomes]
rs10031471	0.87[AFR][1000 genomes]
rs10084893	0.87[AFR][1000 genomes]
rs11098811	0.87[AFR][1000 genomes]
rs11932005	0.89[AFR][1000 genomes]
rs12640965	0.87[AFR][1000 genomes]
rs12650153	1.00[AFR][1000 genomes]
rs13132307	0.89[AFR][1000 genomes]
rs13144799	0.89[AFR][1000 genomes]
rs13144803	0.89[AFR][1000 genomes]
rs1354709	0.87[AFR][1000 genomes]
rs1355159	0.87[AFR][1000 genomes]
rs1395234	0.89[AFR][1000 genomes]
rs1395243	1.00[AFR][1000 genomes]
rs1396687	0.89[AFR][1000 genomes]
rs1506356	0.89[AFR][1000 genomes]
rs1506362	0.87[AFR][1000 genomes]
rs1848579	0.87[AFR][1000 genomes]
rs1912041	0.89[AFR][1000 genomes]
rs1912042	0.89[AFR][1000 genomes]
rs1983117	0.87[AFR][1000 genomes]
rs2036723	0.89[AFR][1000 genomes]
rs2036724	0.87[AFR][1000 genomes]
rs2135428	1.00[AFR][1000 genomes]
rs2135429	0.87[AFR][1000 genomes]
rs2390835	0.89[AFR][1000 genomes]
rs2390836	0.87[AFR][1000 genomes]
rs2390837	0.87[AFR][1000 genomes]
rs2390839	0.87[AFR][1000 genomes]
rs2390840	1.00[AFR][1000 genomes]
rs2893131	0.87[AFR][1000 genomes]
rs4508902	0.89[AFR][1000 genomes]
rs4585321	1.00[AFR][1000 genomes]
rs4605670	1.00[AFR][1000 genomes]
rs4834030	1.00[AFR][1000 genomes]
rs4834032	0.89[AFR][1000 genomes]
rs4834033	0.89[AFR][1000 genomes]
rs4834034	0.89[AFR][1000 genomes]
rs4834036	0.89[AFR][1000 genomes]
rs4834041	1.00[AFR][1000 genomes]
rs4834043	1.00[AFR][1000 genomes]
rs4834047	0.87[AFR][1000 genomes]
rs6534479	0.89[AFR][1000 genomes]
rs6534480	0.87[AFR][1000 genomes]
rs6534484	0.87[AFR][1000 genomes]
rs6814158	0.87[AFR][1000 genomes]
rs6816596	1.00[AFR][1000 genomes]
rs6833240	0.89[AFR][1000 genomes]
rs6851018	0.89[AFR][1000 genomes]
rs6851098	1.00[AFR][1000 genomes]
rs7656135	1.00[AFR][1000 genomes]
rs7661810	1.00[AFR][1000 genomes]
rs7668690	0.87[AFR][1000 genomes]
rs7675556	0.89[AFR][1000 genomes]
rs7699122	1.00[AFR][1000 genomes]
rs925241	0.89[AFR][1000 genomes]
rs958415	0.89[AFR][1000 genomes]
rs958844	1.00[AFR][1000 genomes]
rs963397	1.00[AFR][1000 genomes]
rs988314	1.00[AFR][1000 genomes]
rs988315	0.87[AFR][1000 genomes]
rs988863	1.00[AFR][1000 genomes]
rs988933	0.89[AFR][1000 genomes]
rs9968423	0.87[AFR][1000 genomes]
rs9991326	1.00[AFR][1000 genomes]
rs9995153	0.87[AFR][1000 genomes]
rs9996895	0.89[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	nsv1006068	chr4:126103233-126497467	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
2	nsv830051	chr4:126234895-126403426	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv470070	chr4:126299145-126408586	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:126335200-126400800	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr4:126355000-126399600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr4:126356400-126414200	Weak transcription	Osteobl	bone
4	chr4:126367000-126401800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:126372000-126402600	Weak transcription	Adipose Nuclei	Adipose
6	chr4:126372200-126411200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr4:126373600-126411000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr4:126373800-126400400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr4:126374200-126400000	Weak transcription	Fetal Stomach	stomach
10	chr4:126374800-126398200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr4:126377400-126402600	Weak transcription	Fetal Intestine Large	intestine
12	chr4:126381000-126411200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr4:126382600-126402600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr4:126383400-126412200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr4:126384000-126413200	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr4:126384200-126404200	Weak transcription	Colon Smooth Muscle	Colon
17	chr4:126384200-126411800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr4:126384400-126418000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr4:126388400-126413800	Weak transcription	NHDF-Ad	bronchial
20	chr4:126388600-126411200	Weak transcription	Fetal Intestine Small	intestine
21	chr4:126388800-126411200	Weak transcription	Brain Hippocampus Middle	brain
22	chr4:126389200-126413400	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr4:126390000-126402600	Weak transcription	Left Ventricle	heart
24	chr4:126390000-126411000	Weak transcription	Placenta	Placenta
25	chr4:126390000-126411000	Weak transcription	Lung	lung
26	chr4:126390800-126408600	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr4:126391000-126399800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr4:126391000-126411400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr4:126391200-126402600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr4:126391400-126402800	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr4:126391600-126402600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr4:126391600-126409400	Weak transcription	Ovary	ovary
33	chr4:126391800-126400000	Weak transcription	Fetal Muscle Leg	muscle
34	chr4:126391800-126402400	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr4:126391800-126410200	Weak transcription	Fetal Heart	heart
36	chr4:126392000-126402600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr4:126392000-126403000	Weak transcription	HSMM	muscle
38	chr4:126392200-126400200	Weak transcription	Fetal Kidney	kidney
39	chr4:126392200-126402600	Weak transcription	Liver	Liver
40	chr4:126392200-126402600	Weak transcription	Fetal Muscle Trunk	muscle
41	chr4:126392200-126411000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr4:126392200-126411400	Weak transcription	Fetal Brain Male	brain
43	chr4:126392400-126399200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr4:126392600-126398000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr4:126395000-126411800	Weak transcription	Primary hematopoietic stem cells	blood
46	chr4:126395200-126402600	Weak transcription	HUVEC	blood vessel
47	chr4:126396000-126397400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr4:126396200-126406000	Strong transcription	Fetal Lung	lung

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