Variant report

Variant	rs2481648
Chromosome Location	chr1:176049582-176049583
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10429846	0.97[AFR][1000 genomes]
rs10798430	1.00[CHB][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs10798435	1.00[CHB][hapmap]
rs10798443	0.91[AFR][1000 genomes]
rs10913125	0.94[AFR][1000 genomes]
rs13376706	0.83[AFR][1000 genomes]
rs1357338	1.00[CHB][hapmap]
rs2481626	0.91[AFR][1000 genomes]
rs2481632	1.00[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs2481637	0.92[AFR][1000 genomes]
rs2481640	1.00[CHB][hapmap]
rs2481644	0.85[AFR][1000 genomes]
rs2481649	0.97[AFR][1000 genomes]
rs2481650	0.90[AFR][1000 genomes]
rs2502821	1.00[CHB][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs2502827	1.00[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs2502828	1.00[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs2502837	1.00[CHB][hapmap]
rs2774925	1.00[CHB][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs4233165	1.00[CHB][hapmap];0.95[YRI][hapmap];0.97[AFR][1000 genomes]
rs4298689	0.94[AFR][1000 genomes]
rs4344283	1.00[CHB][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs4347169	1.00[CHB][hapmap]
rs4379645	1.00[CHB][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs4460596	1.00[CHB][hapmap]
rs4534339	1.00[CHB][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs508320	0.85[AFR][1000 genomes]
rs533299	1.00[CHB][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs537407	1.00[CHB][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs598855	1.00[CHB][hapmap]
rs613965	1.00[CHB][hapmap];0.91[YRI][hapmap];0.84[AFR][1000 genomes]
rs6425369	1.00[CHB][hapmap]
rs6425372	1.00[CHB][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs6425373	0.97[AFR][1000 genomes]
rs6425374	1.00[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs646754	1.00[CHB][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs6657278	0.83[AFR][1000 genomes]
rs6674353	1.00[CHB][hapmap]
rs6704250	1.00[CHB][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes]
rs704828	1.00[CHB][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs704833	1.00[CHB][hapmap]
rs7523048	1.00[CHB][hapmap]
rs7525112	1.00[CHB][hapmap]
rs7532122	1.00[CHB][hapmap]
rs7541563	1.00[CHB][hapmap]
rs7554913	1.00[CHB][hapmap]
rs791748	1.00[CHB][hapmap]
rs9425444	0.95[AFR][1000 genomes]
rs964931	0.83[AFR][1000 genomes]
rs998631	1.00[CHB][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv872561	chr1:175949646-176092167	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv872562	chr1:175949646-176141866	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv872563	chr1:175949646-176184625	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv872564	chr1:176027978-176102808	Enhancers Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv548246	chr1:176043797-176136273	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175978200-176050600	Weak transcription	Aorta	Aorta
2	chr1:175978400-176069000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr1:175994200-176065200	Weak transcription	Psoas Muscle	Psoas
4	chr1:176007800-176066400	Weak transcription	Fetal Brain Male	brain
5	chr1:176010400-176066000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr1:176012400-176062800	Weak transcription	Lung	lung
7	chr1:176012400-176065800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:176028200-176079200	Weak transcription	HSMMtube	muscle
9	chr1:176028400-176049600	Weak transcription	K562	blood
10	chr1:176031000-176054000	Weak transcription	NH-A	brain
11	chr1:176035000-176069800	Weak transcription	NHEK	skin
12	chr1:176035200-176067600	Weak transcription	Colonic Mucosa	Colon
13	chr1:176035400-176066400	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr1:176035400-176067200	Weak transcription	HUVEC	blood vessel
15	chr1:176036000-176053800	Weak transcription	Placenta	Placenta
16	chr1:176037200-176064600	Weak transcription	Gastric	stomach
17	chr1:176037200-176067200	Weak transcription	Small Intestine	intestine
18	chr1:176037200-176067400	Weak transcription	Osteobl	bone
19	chr1:176038600-176068800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr1:176038800-176051800	Weak transcription	Rectal Smooth Muscle	rectum
21	chr1:176038800-176059400	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr1:176039200-176068800	Weak transcription	HMEC	breast
23	chr1:176039400-176058800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr1:176040600-176065400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:176042200-176056600	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr1:176042800-176067200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr1:176043000-176065400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr1:176043200-176052200	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr1:176043400-176051200	Weak transcription	Brain Angular Gyrus	brain
30	chr1:176044400-176050600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr1:176044600-176050400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr1:176045000-176050400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
33	chr1:176045000-176050400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr1:176045200-176050200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr1:176045200-176050200	ZNF genes & repeats	Primary T cells from cord blood	blood
36	chr1:176045200-176064600	Weak transcription	Fetal Stomach	stomach
37	chr1:176045800-176050400	Strong transcription	Duodenum Mucosa	Duodenum
38	chr1:176045800-176066000	Weak transcription	Colon Smooth Muscle	Colon
39	chr1:176046200-176051600	Weak transcription	Brain Hippocampus Middle	brain
40	chr1:176046400-176051600	Strong transcription	Dnd41	blood
41	chr1:176046400-176055000	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr1:176046400-176055400	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr1:176046600-176050400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr1:176046600-176057000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr1:176046600-176082200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr1:176046800-176050000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr1:176046800-176050400	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr1:176046800-176055200	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr1:176047000-176050400	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr1:176047000-176051400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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