Variant report

Variant	rs4944229
Chromosome Location	chr11:71619529-71619530
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10898809	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10898815	0.82[AFR][1000 genomes]
rs11235408	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs35236991	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][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	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
2	esv3527986	chr11:71298409-71620955	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
3	esv3527987	chr11:71298409-71620955	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
4	esv2761682	chr11:71299175-71619923	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	esv2758276	chr11:71363639-71657576	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	esv2759836	chr11:71363639-71657576	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	nsv428262	chr11:71363639-71804055	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4944229	FAM86C1	cis	Muscle Skeletal	GTEx

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71586000-71623000	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr11:71586800-71624000	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr11:71587000-71621800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr11:71587400-71627400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr11:71587600-71624200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr11:71588000-71622800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr11:71588000-71623000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr11:71588600-71624800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr11:71589200-71622800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr11:71591400-71638200	Weak transcription	Right Ventricle	heart
11	chr11:71592200-71623200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr11:71598400-71625000	Weak transcription	Brain Anterior Caudate	brain
13	chr11:71599600-71624000	Weak transcription	Primary B cells from peripheral blood	blood
14	chr11:71599800-71622800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr11:71600000-71635800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr11:71600200-71624000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr11:71600200-71625000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr11:71600800-71622800	Weak transcription	Gastric	stomach
19	chr11:71601000-71626600	Weak transcription	Pancreas	Pancrea
20	chr11:71602400-71622400	Weak transcription	Thymus	Thymus
21	chr11:71604800-71624200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr11:71604800-71626600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr11:71605200-71624800	Weak transcription	Fetal Muscle Trunk	muscle
24	chr11:71605800-71619600	Weak transcription	Primary T cells from cord blood	blood
25	chr11:71606000-71626800	Weak transcription	Colon Smooth Muscle	Colon
26	chr11:71606400-71624800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr11:71606600-71638200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr11:71607400-71623000	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr11:71608200-71619600	Weak transcription	Fetal Intestine Small	intestine
30	chr11:71610800-71623000	Weak transcription	Lung	lung
31	chr11:71611400-71625000	Weak transcription	A549	lung
32	chr11:71612000-71624800	Weak transcription	Liver	Liver
33	chr11:71612200-71624200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr11:71612200-71625800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr11:71612600-71621200	Weak transcription	Fetal Stomach	stomach
36	chr11:71612600-71621600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr11:71612600-71621800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr11:71612600-71623000	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr11:71612600-71624200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr11:71612600-71624800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr11:71612800-71622400	Weak transcription	Spleen	Spleen
42	chr11:71612800-71623000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr11:71612800-71624800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr11:71612800-71626600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr11:71612800-71626800	Weak transcription	HSMMtube	muscle
46	chr11:71612800-71639000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:71613000-71621800	Weak transcription	Fetal Muscle Leg	muscle
48	chr11:71613000-71624200	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr11:71613000-71624800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr11:71613000-71625600	Weak transcription	Skeletal Muscle Male	skeletal muscle

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