Variant report

Variant	rs1044808
Chromosome Location	chr1:149871905-149871906
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:149870476..149872872-chr1:149980684..149982893,3	MCF-7	breast:
2	chr1:149871287..149872930-chr5:179247398..179249357,2	MCF-7	breast:
3	chr1:149870500..149872892-chr1:150205749..150208479,2	MCF-7	breast:
4	chr1:149870325..149872593-chr1:150038343..150041327,5	MCF-7	breast:
5	chr1:149869289..149872659-chr1:150292468..150294685,3	MCF-7	breast:
6	chr1:149871341..149873774-chr8:145909507..145911795,2	MCF-7	breast:
7	chr1:149871037..149872618-chr11:65265092..65267931,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000270117	Chromatin interaction
ENSG00000251562	Chromatin interaction
ENSG00000163113	Chromatin interaction
ENSG00000117360	Chromatin interaction
ENSG00000143401	Chromatin interaction
ENSG00000161011	Chromatin interaction
ENSG00000136631	Chromatin interaction
ENSG00000147799	Chromatin interaction

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs1046332	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10494261	0.84[EUR][1000 genomes]
rs10494363	0.84[EUR][1000 genomes]
rs11205307	0.84[EUR][1000 genomes]
rs11205308	0.84[EUR][1000 genomes]
rs11577346	1.00[AFR][1000 genomes]
rs11584091	1.00[AFR][1000 genomes]
rs11584354	1.00[AFR][1000 genomes]
rs11587963	1.00[AFR][1000 genomes]
rs12062387	1.00[EUR][1000 genomes]
rs12077623	0.84[EUR][1000 genomes]
rs12078573	0.89[CEU][hapmap];0.87[EUR][1000 genomes]
rs12081082	0.84[EUR][1000 genomes]
rs1349532	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1376675	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1376676	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1451641	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs15931	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs16835135	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs16836630	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs17643644	0.89[CEU][hapmap];0.87[EUR][1000 genomes]
rs1804775	0.87[EUR][1000 genomes]
rs2044891	0.84[EUR][1000 genomes]
rs2198194	0.84[EUR][1000 genomes]
rs28560140	1.00[AFR][1000 genomes]
rs3106121	1.00[CEU][hapmap]
rs35230744	0.84[EUR][1000 genomes]
rs41264630	0.90[EUR][1000 genomes]
rs41265185	0.84[EUR][1000 genomes]
rs41302101	0.84[EUR][1000 genomes]
rs45548131	0.89[EUR][1000 genomes]
rs55633017	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55664407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55705001	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55840680	1.00[AFR][1000 genomes]
rs55885412	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56119131	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56139516	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56212907	1.00[AFR][1000 genomes]
rs56229803	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56265028	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs56369603	1.00[AFR][1000 genomes]
rs61355654	1.00[EUR][1000 genomes]
rs6587680	0.80[EUR][1000 genomes]
rs68002561	0.86[EUR][1000 genomes]
rs68144650	0.89[EUR][1000 genomes]
rs72692803	0.90[EUR][1000 genomes]
rs72692804	0.89[EUR][1000 genomes]
rs72692805	0.89[EUR][1000 genomes]
rs72692807	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72692808	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72692810	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72692811	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72692812	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72692813	0.87[EUR][1000 genomes]
rs72692814	0.87[EUR][1000 genomes]
rs72692816	0.87[EUR][1000 genomes]
rs72692818	0.87[EUR][1000 genomes]
rs72692819	0.87[EUR][1000 genomes]
rs72692873	1.00[AFR][1000 genomes]
rs72692886	1.00[AFR][1000 genomes]
rs72692893	1.00[AFR][1000 genomes]
rs72692898	1.00[AFR][1000 genomes]
rs72692899	1.00[AFR][1000 genomes]
rs72692900	1.00[AFR][1000 genomes]
rs72694914	1.00[AFR][1000 genomes]
rs72694915	1.00[AFR][1000 genomes]
rs72694923	1.00[AFR][1000 genomes]
rs72694926	1.00[AFR][1000 genomes]
rs72694928	1.00[AFR][1000 genomes]
rs72694933	1.00[AFR][1000 genomes]
rs72694936	1.00[AFR][1000 genomes]
rs72708145	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72708148	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72708149	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72708150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72708151	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72708152	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72708153	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72708157	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72708158	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72708162	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73008195	0.84[EUR][1000 genomes]
rs7524797	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7544531	1.00[CEU][hapmap]

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	nsv432820	chr1:148921404-149920927	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	784 gene(s)	inside rSNPs	diseases
2	nsv831525	chr1:149701537-149878033	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
3	nsv831537	chr1:149833357-150064655	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	431 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:149870800-149872000	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr1:149870800-149872000	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr1:149870800-149872000	Active TSS	Osteobl	bone
4	chr1:149870800-149872400	Flanking Active TSS	Stomach Smooth Muscle	stomach
5	chr1:149870800-149872600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
6	chr1:149871000-149872000	Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr1:149871000-149872000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:149871000-149872000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
9	chr1:149871000-149872000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
10	chr1:149871000-149872000	Active TSS	Colon Smooth Muscle	Colon
11	chr1:149871000-149872000	Active TSS	Fetal Kidney	kidney
12	chr1:149871000-149872000	Flanking Active TSS	Placenta	Placenta
13	chr1:149871000-149872000	Active TSS	HSMMtube	muscle
14	chr1:149871000-149872200	Active TSS	H9 Cell Line	embryonic stem cell
15	chr1:149871000-149872200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:149871000-149872200	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr1:149871200-149872000	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr1:149871200-149872000	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr1:149871200-149872000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:149871200-149872000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
21	chr1:149871200-149872000	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr1:149871200-149872000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
23	chr1:149871200-149872000	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr1:149871200-149872200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr1:149871200-149872200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
26	chr1:149871200-149872200	Flanking Active TSS	Fetal Muscle Trunk	muscle
27	chr1:149871200-149872200	Flanking Active TSS	HUVEC	blood vessel
28	chr1:149871200-149872400	Transcr. at gene 5' and 3'	Dnd41	blood
29	chr1:149871400-149872000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:149871400-149872000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:149871400-149872000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:149871400-149872000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
33	chr1:149871400-149872000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
34	chr1:149871400-149872000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
35	chr1:149871400-149872000	Flanking Active TSS	Fetal Thymus	thymus
36	chr1:149871400-149872000	Flanking Active TSS	Hela-S3	cervix
37	chr1:149871400-149872000	Flanking Active TSS	HMEC	breast
38	chr1:149871400-149872000	Flanking Active TSS	NHLF	lung
39	chr1:149871400-149872200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr1:149871400-149872200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr1:149871400-149872200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr1:149871400-149872200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr1:149871400-149872200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr1:149871400-149872200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr1:149871600-149872000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
46	chr1:149871600-149872000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
47	chr1:149871600-149872000	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:149871600-149872000	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr1:149871600-149872000	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr1:149871600-149872000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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