Variant report

Variant	rs2885676
Chromosome Location	chr1:155813444-155813445
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:155813223..155816752-chr1:155827638..155829227,3	K562	blood:
2	chr1:155811458..155814834-chr1:155821359..155824319,3	K562	blood:

Variant related genes	Relation type
ENSG00000116580	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10796952	0.89[AMR][1000 genomes]
rs11264417	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs1621690	0.87[AFR][1000 genomes]
rs1625821	1.00[AMR][1000 genomes]
rs1627630	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs168343	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs171168	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1749412	1.00[ASW][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1749413	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1749414	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1749420	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1749422	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1756242	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1765280	0.96[AFR][1000 genomes]
rs1765283	0.87[AFR][1000 genomes]
rs1765286	0.88[AFR][1000 genomes]
rs1886618	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2136920	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2175389	1.00[AMR][1000 genomes]
rs2363017	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs2481623	0.93[AFR][1000 genomes]
rs2485470	0.92[AFR][1000 genomes]
rs2485472	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2666828	0.89[AMR][1000 genomes]
rs2686264	0.89[AMR][1000 genomes]
rs2988999	0.89[AMR][1000 genomes]
rs348184	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs348188	0.89[AMR][1000 genomes]
rs348189	0.89[AMR][1000 genomes]
rs348191	1.00[AMR][1000 genomes]
rs348193	0.89[AMR][1000 genomes]
rs348197	1.00[AMR][1000 genomes]
rs348199	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs348200	1.00[AMR][1000 genomes]
rs348207	1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs348208	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs348209	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35264557	0.89[AMR][1000 genomes]
rs4581273	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs492669	0.89[AMR][1000 genomes]
rs4971058	0.81[ASW][hapmap];0.89[AMR][1000 genomes]
rs512551	0.93[ASW][hapmap];0.80[LWK][hapmap];0.82[MKK][hapmap];0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs540380	1.00[ASW][hapmap];0.83[LWK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs568672	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs606755	1.00[AMR][1000 genomes]
rs607036	0.81[ASW][hapmap];0.89[AMR][1000 genomes]
rs617232	0.81[ASW][hapmap];0.89[AMR][1000 genomes]
rs6427290	1.00[AFR][1000 genomes]
rs6688399	0.93[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs670787	0.89[AMR][1000 genomes]
rs708607	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs708609	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs708613	1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs8179457	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs822011	0.84[AFR][1000 genomes]
rs822013	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs822014	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs822017	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs822021	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs822023	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs822024	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs822027	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs822479	0.90[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs822481	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs822483	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs822484	0.83[AFR][1000 genomes]
rs822485	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs822487	0.98[AFR][1000 genomes]
rs822492	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs822496	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs822498	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs822521	0.93[ASW][hapmap];0.87[LWK][hapmap];0.81[MKK][hapmap];0.88[YRI][hapmap];0.85[AFR][1000 genomes]
rs822522	1.00[AMR][1000 genomes]
rs866603	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9427219	0.89[AMR][1000 genomes]
rs9427222	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9427227	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9427229	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
2	esv3423892	chr1:155664084-155901487	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv1003170	chr1:155762204-155836564	Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv916198	chr1:155804210-156403997	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	428 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155783600-155823000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:155787600-155822000	Weak transcription	Esophagus	oesophagus
3	chr1:155789600-155822000	Weak transcription	Fetal Brain Male	brain
4	chr1:155791800-155814800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:155792200-155814200	Weak transcription	Colonic Mucosa	Colon
6	chr1:155792200-155814800	Weak transcription	HMEC	breast
7	chr1:155792200-155822000	Weak transcription	Pancreas	Pancrea
8	chr1:155792200-155826000	Weak transcription	Stomach Mucosa	stomach
9	chr1:155792400-155814800	Weak transcription	Colon Smooth Muscle	Colon
10	chr1:155792400-155826600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:155792600-155813800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr1:155792600-155822800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr1:155793400-155814400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr1:155793400-155820200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr1:155793600-155814600	Weak transcription	HUVEC	blood vessel
16	chr1:155793800-155813600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr1:155793800-155814600	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr1:155793800-155815000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr1:155795200-155815000	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr1:155795200-155817800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr1:155796000-155814600	Weak transcription	Brain Germinal Matrix	brain
22	chr1:155796000-155814600	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr1:155796600-155813600	Weak transcription	Brain Anterior Caudate	brain
24	chr1:155796800-155821200	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr1:155796800-155822800	Weak transcription	Small Intestine	intestine
26	chr1:155797400-155814400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr1:155797400-155814600	Weak transcription	Adipose Nuclei	Adipose
28	chr1:155798000-155814400	Weak transcription	Stomach Smooth Muscle	stomach
29	chr1:155798000-155814800	Weak transcription	Liver	Liver
30	chr1:155798000-155822000	Weak transcription	Aorta	Aorta
31	chr1:155798200-155815000	Weak transcription	Fetal Lung	lung
32	chr1:155799200-155815000	Weak transcription	Fetal Kidney	kidney
33	chr1:155801800-155814600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr1:155803800-155826000	Weak transcription	Right Atrium	heart
35	chr1:155804200-155815200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr1:155804400-155813800	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr1:155804400-155814400	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr1:155804400-155814600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr1:155804400-155814600	Weak transcription	Brain Substantia Nigra	brain
40	chr1:155804400-155814800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr1:155804600-155814000	Weak transcription	Brain Hippocampus Middle	brain
42	chr1:155804600-155814200	Weak transcription	Left Ventricle	heart
43	chr1:155804600-155814200	Weak transcription	HSMMtube	muscle
44	chr1:155804600-155814400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr1:155804600-155814800	Weak transcription	NHLF	lung
46	chr1:155804600-155821600	Weak transcription	NHDF-Ad	bronchial
47	chr1:155805600-155816800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr1:155807000-155814000	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr1:155807200-155814600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr1:155807400-155813600	Weak transcription	Fetal Muscle Leg	muscle

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