Variant report

Variant	rs2177205
Chromosome Location	chr1:175901549-175901550
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10753116	1.00[EUR][1000 genomes]
rs10798426	1.00[EUR][1000 genomes]
rs10913130	1.00[EUR][1000 genomes]
rs2481638	1.00[EUR][1000 genomes]
rs2481645	1.00[EUR][1000 genomes]
rs2481654	1.00[EUR][1000 genomes]
rs2502846	1.00[EUR][1000 genomes]
rs2861628	0.85[AFR][1000 genomes]
rs4361950	1.00[EUR][1000 genomes]
rs4622022	1.00[EUR][1000 genomes]
rs4631649	1.00[EUR][1000 genomes]
rs4650931	1.00[EUR][1000 genomes]
rs6657175	1.00[EUR][1000 genomes]
rs6662293	1.00[EUR][1000 genomes]
rs6684386	0.89[AFR][1000 genomes]
rs6693536	1.00[EUR][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	esv33328	chr1:175446583-175910001	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	esv1823794	chr1:175869554-176311778	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv946515	chr1:175890137-175903482	ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175863200-175906400	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr1:175874400-175945600	Weak transcription	A549	lung
3	chr1:175877800-175902400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr1:175880000-175937800	Weak transcription	HSMMtube	muscle
5	chr1:175880400-175904400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:175881000-175905200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:175881000-175924200	Weak transcription	Brain Angular Gyrus	brain
8	chr1:175882600-175902200	Weak transcription	Aorta	Aorta
9	chr1:175882600-175910200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:175883200-175908200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:175886400-175929400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr1:175887800-175929800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr1:175889200-175937800	Weak transcription	Osteobl	bone
14	chr1:175891400-175908800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr1:175892000-175908800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr1:175892400-175940600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:175893200-175943000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:175895200-175908800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr1:175895400-175904800	Weak transcription	HSMM	muscle
20	chr1:175895600-175904400	Weak transcription	Primary T cells from cord blood	blood
21	chr1:175895800-175908800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr1:175897000-175953000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr1:175897200-175908800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:175897600-175905200	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr1:175897600-175905200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr1:175897600-175905800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:175897600-175908400	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr1:175897600-175908800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:175897600-175909200	Weak transcription	Brain Germinal Matrix	brain
30	chr1:175897600-175911000	Weak transcription	Thymus	Thymus
31	chr1:175897600-175953200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr1:175897800-175952400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr1:175898200-175904600	Weak transcription	Fetal Muscle Trunk	muscle
34	chr1:175898400-175909000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr1:175898600-175953200	Weak transcription	Pancreas	Pancrea
36	chr1:175898800-175905000	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr1:175898800-175909000	Weak transcription	Left Ventricle	heart
38	chr1:175899000-175908800	Weak transcription	Fetal Intestine Large	intestine
39	chr1:175899200-175953200	Weak transcription	Esophagus	oesophagus
40	chr1:175899600-175907200	Weak transcription	Fetal Intestine Small	intestine
41	chr1:175899800-175906000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr1:175900800-175907400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr1:175900800-175908400	Weak transcription	Dnd41	blood
44	chr1:175901200-175901600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr1:175901400-175908600	Weak transcription	Primary T helper cells fromperipheralblood	blood

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