Variant report

Variant	rs72708148
Chromosome Location	chr1:149850941-149850942
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:149849777..149851600-chr1:149907660..149909766,2	MCF-7	breast:
2	chr1:149849074..149851126-chr1:150039116..150040958,2	MCF-7	breast:
3	chr1:149849193..149852005-chr1:149913789..149916123,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000014914	Chromatin interaction
ENSG00000136631	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs1044808	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1046332	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10494261	0.83[EUR][1000 genomes]
rs10494363	0.83[EUR][1000 genomes]
rs11205307	0.83[EUR][1000 genomes]
rs11205308	0.83[EUR][1000 genomes]
rs11577346	1.00[AFR][1000 genomes]
rs11584354	1.00[AFR][1000 genomes]
rs12062387	0.99[EUR][1000 genomes]
rs12077623	0.83[EUR][1000 genomes]
rs12078573	0.86[EUR][1000 genomes]
rs12081082	0.83[EUR][1000 genomes]
rs1349532	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1376675	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1376676	0.99[EUR][1000 genomes]
rs1451641	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs15931	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16835135	0.94[EUR][1000 genomes]
rs16836630	0.87[EUR][1000 genomes]
rs17643644	0.86[EUR][1000 genomes]
rs1804775	0.86[EUR][1000 genomes]
rs2044891	0.83[EUR][1000 genomes]
rs2198194	0.83[EUR][1000 genomes]
rs28560140	1.00[AFR][1000 genomes]
rs35230744	0.83[EUR][1000 genomes]
rs41264630	0.89[EUR][1000 genomes]
rs41265185	0.83[EUR][1000 genomes]
rs41302101	0.83[EUR][1000 genomes]
rs45548131	0.87[EUR][1000 genomes]
rs55633017	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55664407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55705001	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55885412	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56119131	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56139516	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56212907	1.00[AFR][1000 genomes]
rs56229803	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56265028	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs61355654	0.99[EUR][1000 genomes]
rs68002561	0.85[EUR][1000 genomes]
rs68144650	0.87[EUR][1000 genomes]
rs72692803	0.89[EUR][1000 genomes]
rs72692804	0.87[EUR][1000 genomes]
rs72692805	0.87[EUR][1000 genomes]
rs72692807	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72692808	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72692810	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72692811	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72692812	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72692813	0.86[EUR][1000 genomes]
rs72692814	0.86[EUR][1000 genomes]
rs72692816	0.86[EUR][1000 genomes]
rs72692818	0.86[EUR][1000 genomes]
rs72692819	0.86[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]
rs72708145	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72708149	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72708150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72708151	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72708152	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72708153	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72708157	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72708158	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72708162	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73008195	0.83[EUR][1000 genomes]
rs7524797	0.92[AMR][1000 genomes];0.96[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	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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:149846400-149853400	Weak transcription	Fetal Intestine Small	intestine
2	chr1:149846400-149855200	Weak transcription	Fetal Stomach	stomach
3	chr1:149846600-149854400	Weak transcription	Primary B cells from cord blood	blood
4	chr1:149847800-149853400	Weak transcription	Fetal Intestine Large	intestine
5	chr1:149849000-149851000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr1:149849200-149855800	Weak transcription	Right Atrium	heart
7	chr1:149849400-149853400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr1:149849400-149853600	Weak transcription	K562	blood
9	chr1:149849600-149854800	Weak transcription	Psoas Muscle	Psoas
10	chr1:149849600-149855200	Weak transcription	Placenta	Placenta
11	chr1:149849600-149855200	Weak transcription	Left Ventricle	heart
12	chr1:149849600-149855200	Weak transcription	Right Ventricle	heart
13	chr1:149849600-149855200	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr1:149849800-149855000	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr1:149849800-149855200	Weak transcription	Primary B cells from peripheral blood	blood
16	chr1:149850000-149852200	Enhancers	Primary T cells fromperipheralblood	blood
17	chr1:149850000-149852200	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr1:149850000-149852400	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr1:149850000-149854200	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr1:149850400-149851400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr1:149850400-149852000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr1:149850400-149852000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr1:149850400-149852200	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr1:149850600-149851800	Enhancers	Fetal Thymus	thymus
25	chr1:149850600-149852200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr1:149850600-149852200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr1:149850800-149851400	Flanking Active TSS	Primary T cells from cord blood	blood
28	chr1:149850800-149851600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr1:149850800-149851600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr1:149850800-149851600	Enhancers	Dnd41	blood
31	chr1:149850800-149852200	Enhancers	Thymus	Thymus

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