Variant report

Variant	rs35090349
Chromosome Location	chr2:11550190-11550191
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11544399..11546841-chr2:11549299..11551569,2	MCF-7	breast:
2	chr2:11545022..11549769-chr2:11549850..11555213,6	K562	blood:
3	chr2:11480197..11487084-chr2:11550062..11554181,8	MCF-7	breast:
4	chr2:11548914..11551834-chr2:11553919..11556000,2	K562	blood:

Variant related genes	Relation type
ENSG00000134318	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10929736	0.82[AMR][1000 genomes]
rs10929737	0.82[AMR][1000 genomes]
rs10929739	0.83[AMR][1000 genomes]
rs11682602	0.84[AMR][1000 genomes]
rs11691211	0.82[AMR][1000 genomes]
rs12613503	0.84[AMR][1000 genomes]
rs12614218	0.84[AMR][1000 genomes]
rs12617534	0.84[AMR][1000 genomes]
rs12990560	0.81[AMR][1000 genomes]
rs12994661	0.81[AMR][1000 genomes]
rs12995996	0.83[AMR][1000 genomes]
rs13007909	0.84[AMR][1000 genomes]
rs34079430	0.82[AMR][1000 genomes]
rs34313955	0.85[AMR][1000 genomes]
rs35053846	0.84[AMR][1000 genomes]
rs3922995	0.82[AMR][1000 genomes]
rs4335920	0.84[AMR][1000 genomes]
rs4588159	0.82[AMR][1000 genomes]
rs4637076	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6708001	0.84[AMR][1000 genomes]
rs6708015	0.84[AMR][1000 genomes]
rs6715035	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6735707	0.84[AMR][1000 genomes]
rs6736199	0.84[AMR][1000 genomes]
rs6750266	0.84[AMR][1000 genomes]
rs6750482	0.84[AMR][1000 genomes]
rs6750499	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11544600-11551600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:11545000-11552000	Weak transcription	Lung	lung
3	chr2:11545200-11551800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:11546200-11550400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:11546200-11551600	Weak transcription	HUVEC	blood vessel
6	chr2:11546200-11552000	Weak transcription	Right Ventricle	heart
7	chr2:11546600-11584200	Weak transcription	Pancreas	Pancrea
8	chr2:11547000-11551400	Weak transcription	Colonic Mucosa	Colon
9	chr2:11547000-11551400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr2:11547200-11551400	Weak transcription	Fetal Kidney	kidney
11	chr2:11547400-11550200	Enhancers	NHDF-Ad	bronchial
12	chr2:11547400-11550800	Weak transcription	Right Atrium	heart
13	chr2:11547400-11551000	Weak transcription	Fetal Heart	heart
14	chr2:11547400-11551400	Weak transcription	Adipose Nuclei	Adipose
15	chr2:11547400-11551400	Weak transcription	Placenta	Placenta
16	chr2:11547400-11551400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr2:11547600-11551200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:11547800-11550800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr2:11547800-11551400	Weak transcription	Left Ventricle	heart
20	chr2:11547800-11551400	Weak transcription	Stomach Mucosa	stomach
21	chr2:11547800-11551800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:11548000-11550200	Weak transcription	Fetal Lung	lung
23	chr2:11548000-11550800	Weak transcription	HepG2	liver
24	chr2:11548000-11551400	Weak transcription	Duodenum Mucosa	Duodenum
25	chr2:11548000-11551400	Weak transcription	Fetal Stomach	stomach
26	chr2:11548000-11551600	Weak transcription	Rectal Smooth Muscle	rectum
27	chr2:11548000-11551800	Weak transcription	Aorta	Aorta
28	chr2:11548000-11551800	Weak transcription	Brain Anterior Caudate	brain
29	chr2:11548000-11551800	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr2:11548000-11551800	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr2:11548000-11551800	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr2:11548000-11552000	Weak transcription	Brain Substantia Nigra	brain
33	chr2:11548200-11551400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:11548200-11551400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr2:11548200-11551400	Weak transcription	Stomach Smooth Muscle	stomach
36	chr2:11548200-11552000	Weak transcription	Brain Angular Gyrus	brain
37	chr2:11548200-11552000	Weak transcription	HSMMtube	muscle
38	chr2:11548400-11551800	Weak transcription	Fetal Muscle Leg	muscle
39	chr2:11548400-11552200	Weak transcription	Psoas Muscle	Psoas
40	chr2:11548400-11552400	Weak transcription	Small Intestine	intestine
41	chr2:11548600-11550600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:11548600-11551800	Weak transcription	Ovary	ovary
43	chr2:11549000-11551800	Enhancers	A549	lung
44	chr2:11549200-11550400	Enhancers	Muscle Satellite Cultured Cells	--
45	chr2:11549200-11550600	Enhancers	Osteobl	bone
46	chr2:11549200-11550800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr2:11549600-11550600	Weak transcription	Fetal Intestine Large	intestine
48	chr2:11549800-11551800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr2:11550000-11550600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr2:11550000-11551200	Weak transcription	Fetal Intestine Small	intestine

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