Variant report

Variant	rs72785256
Chromosome Location	chr10:43880649-43880650
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:43878107..43880798-chr10:43952331..43954011,2	K562	blood:
2	chr10:43855647..43857752-chr10:43878006..43881075,3	MCF-7	breast:
3	chr10:43868177..43875753-chr10:43880229..43888906,15	MCF-7	breast:
4	chr10:43858007..43859575-chr10:43879795..43881644,2	MCF-7	breast:
5	chr10:43879008..43883052-chr10:43949060..43952010,4	K562	blood:
6	chr10:43879370..43881344-chr10:43930901..43933311,2	MCF-7	breast:
7	chr10:43858972..43861250-chr10:43879046..43881690,2	K562	blood:

Variant related genes	Relation type
ENSG00000252532	Chromatin interaction
ENSG00000243660	Chromatin interaction
ENSG00000150201	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1106215	1.00[ASN][1000 genomes]
rs11238575	1.00[ASN][1000 genomes]
rs17153601	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17366781	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1856400	1.00[ASN][1000 genomes]
rs1879311	1.00[ASN][1000 genomes]
rs2248707	0.83[AFR][1000 genomes]
rs2248807	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2253260	1.00[ASN][1000 genomes]
rs2261637	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2264603	1.00[ASN][1000 genomes]
rs2265955	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2812798	0.93[EUR][1000 genomes]
rs2819025	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2999222	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2999288	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2999290	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3006393	1.00[ASN][1000 genomes]
rs3006410	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3124211	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4948727	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55765722	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56037308	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56087058	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56234785	1.00[ASN][1000 genomes]
rs56237566	1.00[ASN][1000 genomes]
rs56252639	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56275379	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7072967	1.00[ASN][1000 genomes]
rs7073345	1.00[ASN][1000 genomes]
rs7084621	1.00[ASN][1000 genomes]
rs7085670	1.00[ASN][1000 genomes]
rs72785234	1.00[ASN][1000 genomes]
rs72785236	1.00[ASN][1000 genomes]
rs72785237	1.00[ASN][1000 genomes]
rs72785243	1.00[ASN][1000 genomes]
rs72785246	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785248	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785255	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72785266	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72787434	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7916718	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9422365	0.82[AMR][1000 genomes];0.96[EUR][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	nsv430159	chr10:43291894-43946294	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv1043661	chr10:43626619-43890162	Bivalent Enhancer Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv540574	chr10:43626619-43890162	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv895087	chr10:43783339-43982390	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
5	nsv831842	chr10:43846541-43987501	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
6	nsv895088	chr10:43871999-44003101	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription 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	67 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	chr10:43858600-43891000	Weak transcription	Right Atrium	heart
2	chr10:43869200-43882000	Weak transcription	Left Ventricle	heart
3	chr10:43870000-43881200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr10:43870000-43882000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr10:43870200-43881000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr10:43870200-43882000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr10:43870200-43882000	Weak transcription	Brain Substantia Nigra	brain
8	chr10:43870400-43881000	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr10:43870400-43881600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr10:43870400-43882000	Weak transcription	Brain Angular Gyrus	brain
11	chr10:43871200-43881600	Weak transcription	Brain Hippocampus Middle	brain
12	chr10:43871400-43880800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr10:43872600-43881000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr10:43873200-43881200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr10:43873200-43890200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr10:43873400-43880800	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr10:43873400-43881000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr10:43873400-43881000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr10:43873400-43881000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr10:43873400-43881200	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr10:43873400-43881400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr10:43873400-43881800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr10:43873400-43882000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr10:43873400-43891000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr10:43873800-43881000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr10:43873800-43881000	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr10:43873800-43882000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr10:43873800-43882000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr10:43874400-43882400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr10:43876000-43881800	Weak transcription	Colon Smooth Muscle	Colon
31	chr10:43877200-43882000	Weak transcription	Psoas Muscle	Psoas
32	chr10:43877400-43882000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr10:43877600-43881800	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr10:43878000-43881600	Weak transcription	Primary B cells from peripheral blood	blood
35	chr10:43878400-43881600	Weak transcription	Primary hematopoietic stem cells	blood
36	chr10:43878600-43882600	Weak transcription	Fetal Brain Male	brain
37	chr10:43878800-43882200	Weak transcription	Fetal Kidney	kidney
38	chr10:43879000-43882000	Weak transcription	Rectal Smooth Muscle	rectum
39	chr10:43879200-43880800	Weak transcription	Fetal Intestine Large	intestine
40	chr10:43879200-43881000	Weak transcription	HUVEC	blood vessel
41	chr10:43879200-43881600	Weak transcription	Fetal Lung	lung
42	chr10:43879200-43881600	Weak transcription	NHDF-Ad	bronchial
43	chr10:43879200-43882000	Weak transcription	Aorta	Aorta
44	chr10:43879200-43882000	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr10:43879200-43889800	Strong transcription	Brain Germinal Matrix	brain
46	chr10:43879400-43881800	Weak transcription	K562	blood
47	chr10:43879400-43882000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr10:43879400-43882000	Weak transcription	Fetal Intestine Small	intestine
49	chr10:43879400-43882000	Weak transcription	Ovary	ovary
50	chr10:43879400-43889400	Strong transcription	Fetal Brain Female	brain

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