Variant report

Variant	rs55689260
Chromosome Location	chr1:225640816-225640817
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:225637801..225642696-chr1:225647950..225650939,4	K562	blood:
2	chr1:225633065..225638606-chr1:225639136..225643843,7	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12564648	0.82[ASN][1000 genomes]
rs12564945	0.95[ASN][1000 genomes]
rs12566165	0.82[ASN][1000 genomes]
rs12567909	0.87[ASN][1000 genomes]
rs12568642	0.80[ASN][1000 genomes]
rs16845030	0.82[ASN][1000 genomes]
rs16845040	0.80[ASN][1000 genomes]
rs1771316	0.82[ASN][1000 genomes]
rs2657568	0.80[ASN][1000 genomes]
rs58088270	0.80[ASN][1000 genomes]
rs6665838	0.80[ASN][1000 genomes]
rs7544335	0.82[ASN][1000 genomes]
rs7548206	0.80[ASN][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	nsv832714	chr1:225592333-225805396	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1004851	chr1:225614140-225684184	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	esv34905	chr1:225631404-225676582	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225633600-225642000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:225634200-225642000	Weak transcription	K562	blood
3	chr1:225634600-225648400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr1:225635000-225647800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr1:225635200-225641200	Weak transcription	Liver	Liver
6	chr1:225635400-225641800	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr1:225635600-225641600	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr1:225635600-225642000	Weak transcription	Pancreas	Pancrea
9	chr1:225636200-225650000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:225636400-225641600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr1:225636400-225641600	Weak transcription	NHLF	lung
12	chr1:225636400-225642000	Weak transcription	Right Atrium	heart
13	chr1:225636600-225641400	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr1:225636600-225641600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:225636600-225641800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:225636600-225642000	Weak transcription	Brain Hippocampus Middle	brain
17	chr1:225637200-225641600	Weak transcription	Osteobl	bone
18	chr1:225637400-225641400	Enhancers	Colon Smooth Muscle	Colon
19	chr1:225637600-225641800	Weak transcription	Small Intestine	intestine
20	chr1:225637800-225641400	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr1:225637800-225641400	Weak transcription	Stomach Mucosa	stomach
22	chr1:225637800-225642000	Weak transcription	Gastric	stomach
23	chr1:225637800-225642000	Weak transcription	Lung	lung
24	chr1:225637800-225647600	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr1:225637800-225648400	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr1:225638800-225641400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr1:225638800-225641400	Weak transcription	A549	lung
28	chr1:225638800-225642000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr1:225638800-225642000	Weak transcription	HUVEC	blood vessel
30	chr1:225638800-225642200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr1:225639000-225641200	Weak transcription	Thymus	Thymus
32	chr1:225639000-225642200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr1:225639200-225641400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr1:225639200-225641400	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr1:225639200-225641600	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr1:225639200-225641800	Weak transcription	HSMMtube	muscle
37	chr1:225639400-225641400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr1:225639400-225641400	Weak transcription	Hela-S3	cervix
39	chr1:225639400-225641600	Weak transcription	NHEK	skin
40	chr1:225639400-225647000	Weak transcription	Esophagus	oesophagus
41	chr1:225639400-225648000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr1:225639600-225641800	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr1:225639600-225642000	Weak transcription	NH-A	brain
44	chr1:225639800-225641400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr1:225639800-225641600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr1:225639800-225641600	Weak transcription	HMEC	breast
47	chr1:225640000-225643000	Enhancers	Rectal Smooth Muscle	rectum
48	chr1:225640200-225641000	Weak transcription	Stomach Smooth Muscle	stomach
49	chr1:225640200-225641800	Weak transcription	Fetal Thymus	thymus
50	chr1:225640200-225642000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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