Variant report

Variant	rs9944261
Chromosome Location	chr15:72870819-72870820
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:72870388-72870853	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:72870050..72872612-chr15:72882296..72884014,2	MCF-7	breast:
2	chr10:14226515..14228688-chr15:72869488..72872468,2	K562	blood:

Variant related genes	Relation type
ARIH1	TF binding region

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10152810	0.81[MEX][hapmap]
rs10220917	1.00[ASN][1000 genomes]
rs11072372	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12324592	1.00[ASN][1000 genomes]
rs12439127	1.00[ASN][1000 genomes]
rs12441929	0.81[MEX][hapmap]
rs12903882	1.00[ASN][1000 genomes]
rs13379855	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16953788	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16956759	1.00[ASN][1000 genomes]
rs16956826	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16956904	1.00[CHB][hapmap];1.00[MEX][hapmap]
rs16956917	0.81[MEX][hapmap]
rs16957154	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16957161	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16957189	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1816645	0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1963894	1.00[ASN][1000 genomes]
rs28393893	1.00[ASN][1000 genomes]
rs28422889	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28435710	1.00[ASN][1000 genomes]
rs28437631	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs28439115	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28453701	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28471053	1.00[ASN][1000 genomes]
rs28488862	1.00[ASN][1000 genomes]
rs28493570	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28534054	1.00[ASN][1000 genomes]
rs28541481	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28602765	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28661594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28795465	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28832330	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28853391	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4556749	0.81[MEX][hapmap]
rs4777516	1.00[ASN][1000 genomes]
rs6495002	1.00[ASN][1000 genomes]
rs72735194	1.00[ASN][1000 genomes]
rs73440562	1.00[ASN][1000 genomes]
rs73440566	1.00[ASN][1000 genomes]
rs73440586	1.00[ASN][1000 genomes]
rs73442510	1.00[ASN][1000 genomes]
rs8039489	1.00[ASN][1000 genomes]
rs9806212	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9806258	0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9806374	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs998225	1.00[ASW][hapmap];1.00[CHB][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534037	chr15:72659210-72964029	Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv569947	chr15:72800853-72878772	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv569948	chr15:72811402-72878772	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
4	esv2758386	chr15:72819785-73120560	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer 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	55 gene(s)	inside rSNPs	diseases
5	esv2760039	chr15:72819785-73120560	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
6	nsv428307	chr15:72819785-73120560	Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
7	esv3430383	chr15:72821093-73035167	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	nsv521972	chr15:72859770-72878772	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	7 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	chr15:72829200-72880800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr15:72835200-72876000	Weak transcription	Pancreas	Pancrea
3	chr15:72841000-72909000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr15:72846600-72878400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr15:72847000-72878400	Strong transcription	Primary T cells fromperipheralblood	blood
6	chr15:72847800-72878000	Strong transcription	Primary B cells from peripheral blood	blood
7	chr15:72847800-72878400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr15:72850200-72880800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr15:72851400-72877600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr15:72852000-72878800	Strong transcription	Placenta	Placenta
11	chr15:72852800-72878400	Strong transcription	Primary T helper cells PMA-I stimulated	--
12	chr15:72853000-72872600	Weak transcription	Stomach Mucosa	stomach
13	chr15:72853600-72879800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr15:72854400-72879400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr15:72855000-72871200	Weak transcription	Brain Hippocampus Middle	brain
16	chr15:72855200-72878400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr15:72855800-72879800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr15:72856000-72876000	Weak transcription	Esophagus	oesophagus
19	chr15:72857000-72871400	Strong transcription	Adipose Nuclei	Adipose
20	chr15:72857400-72873000	Weak transcription	NHLF	lung
21	chr15:72857400-72878400	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr15:72857400-72881000	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr15:72858200-72878600	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr15:72858400-72878200	Strong transcription	Primary T cells from cord blood	blood
25	chr15:72858800-72871200	Strong transcription	Fetal Muscle Leg	muscle
26	chr15:72859200-72880000	Strong transcription	Liver	Liver
27	chr15:72860000-72871200	Weak transcription	Psoas Muscle	Psoas
28	chr15:72860200-72873000	Weak transcription	Brain Angular Gyrus	brain
29	chr15:72861000-72878800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr15:72861200-72871000	Strong transcription	Fetal Intestine Large	intestine
31	chr15:72861200-72871200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr15:72861200-72877400	Strong transcription	Dnd41	blood
33	chr15:72861400-72880000	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr15:72862000-72877200	Strong transcription	HUVEC	blood vessel
35	chr15:72862400-72871200	Strong transcription	Fetal Stomach	stomach
36	chr15:72862400-72871400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr15:72862400-72875800	Strong transcription	Osteobl	bone
38	chr15:72862400-72876600	Strong transcription	Muscle Satellite Cultured Cells	--
39	chr15:72862400-72878400	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr15:72862800-72871600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr15:72865400-72871200	Weak transcription	Colon Smooth Muscle	Colon
42	chr15:72866400-72871400	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr15:72866400-72877600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr15:72866400-72878400	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr15:72866600-72871200	Strong transcription	HSMMtube	muscle
46	chr15:72866600-72878400	Strong transcription	Skeletal Muscle Female	skeletal muscle
47	chr15:72866800-72872200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr15:72866800-72873400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr15:72866800-72879400	Strong transcription	GM12878-XiMat	blood
50	chr15:72867000-72871200	Weak transcription	NHDF-Ad	bronchial

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