Variant report

Variant	rs12593125
Chromosome Location	chr15:44756268-44756269
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:44755633..44758045-chr15:44829367..44831520,2	K562	blood:

Variant related genes	Relation type
ENSG00000104131	Chromatin interaction

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10152710	0.94[EUR][1000 genomes]
rs1021800	0.94[EUR][1000 genomes]
rs10467977	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12591178	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12591581	0.94[EUR][1000 genomes]
rs12591811	0.94[EUR][1000 genomes]
rs12592995	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12593325	0.94[EUR][1000 genomes]
rs12593686	0.94[EUR][1000 genomes]
rs12593943	0.94[EUR][1000 genomes]
rs12594110	0.94[EUR][1000 genomes]
rs12594139	0.94[EUR][1000 genomes]
rs12594167	1.00[EUR][1000 genomes]
rs12594621	0.94[EUR][1000 genomes]
rs12594645	0.94[EUR][1000 genomes]
rs12594746	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12595484	0.94[EUR][1000 genomes]
rs17551416	0.94[EUR][1000 genomes]
rs2055061	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2288341	0.94[EUR][1000 genomes]
rs2288342	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2303577	0.94[EUR][1000 genomes]
rs2303578	0.87[EUR][1000 genomes]
rs2412883	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2412909	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2433350	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2555353	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2556562	0.92[ASN][1000 genomes]
rs2556566	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2556567	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28508235	0.94[EUR][1000 genomes]
rs28561508	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2899113	0.94[EUR][1000 genomes]
rs35555389	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3784565	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3784567	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3809471	1.00[EUR][1000 genomes]
rs3816928	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3986142	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3986143	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4415978	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4477677	1.00[EUR][1000 genomes]
rs4577056	1.00[EUR][1000 genomes]
rs57270586	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58956090	1.00[EUR][1000 genomes]
rs59230801	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59997416	0.94[EUR][1000 genomes]
rs60003667	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60399672	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61185650	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61234123	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61258861	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61278540	0.94[EUR][1000 genomes]
rs61329003	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61501839	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6493103	0.82[EUR][1000 genomes]
rs7162671	0.94[EUR][1000 genomes]
rs7162802	0.94[EUR][1000 genomes]
rs7163287	0.88[ASN][1000 genomes]
rs7163529	0.94[EUR][1000 genomes]
rs7164709	0.94[EUR][1000 genomes]
rs7166278	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7166945	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7167752	0.94[EUR][1000 genomes]
rs7167870	0.81[ASN][1000 genomes]
rs7169333	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7170248	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7172106	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7175200	0.94[EUR][1000 genomes]
rs7178318	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7179894	0.94[EUR][1000 genomes]
rs7181772	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7183109	0.89[EUR][1000 genomes]
rs8023453	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8024623	0.94[EUR][1000 genomes]
rs8024805	0.94[EUR][1000 genomes]
rs8025727	0.94[EUR][1000 genomes]
rs8025876	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8025955	0.94[EUR][1000 genomes]
rs8026945	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8027036	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8028509	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8028907	0.82[EUR][1000 genomes]
rs8032079	0.94[EUR][1000 genomes]
rs8037395	0.82[EUR][1000 genomes]
rs883943	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9672237	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9673085	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9806725	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431387	chr15:43929378-44862930	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
2	nsv931051	chr15:43988761-44833518	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
3	esv3410956	chr15:44425145-44823647	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv904177	chr15:44582886-44821843	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv569299	chr15:44598642-44776075	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
6	nsv569300	chr15:44609796-44763598	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv904179	chr15:44614684-44821843	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	esv3386433	chr15:44654644-45037538	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	135 gene(s)	inside rSNPs	diseases
9	esv3429957	chr15:44743709-44775347	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44721000-44828000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:44722800-44760600	Weak transcription	Small Intestine	intestine
3	chr15:44728800-44760600	Weak transcription	NHEK	skin
4	chr15:44733600-44760600	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr15:44733800-44756400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr15:44733800-44779000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr15:44734400-44757400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr15:44735600-44779400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr15:44740400-44777400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr15:44740600-44759000	Weak transcription	Colonic Mucosa	Colon
11	chr15:44740600-44779000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr15:44740600-44779000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr15:44740600-44795600	Weak transcription	Esophagus	oesophagus
14	chr15:44740600-44824600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr15:44740800-44764800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr15:44740800-44779000	Weak transcription	Aorta	Aorta
17	chr15:44740800-44779000	Weak transcription	Spleen	Spleen
18	chr15:44741000-44783800	Weak transcription	Right Ventricle	heart
19	chr15:44742000-44756400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr15:44744800-44778400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr15:44749800-44758600	Weak transcription	Colon Smooth Muscle	Colon
22	chr15:44749800-44759200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr15:44750000-44827400	Weak transcription	Pancreas	Pancrea
24	chr15:44750200-44756400	Weak transcription	HSMMtube	muscle
25	chr15:44750200-44779000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr15:44750200-44828000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr15:44750400-44757800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr15:44750400-44758400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr15:44750400-44782800	Weak transcription	Brain Cingulate Gyrus	brain
30	chr15:44750600-44757000	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr15:44750600-44757600	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr15:44750600-44759200	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr15:44750600-44759600	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr15:44750600-44760800	Weak transcription	NHDF-Ad	bronchial
35	chr15:44750600-44760800	Weak transcription	Osteobl	bone
36	chr15:44750600-44779000	Weak transcription	Rectal Smooth Muscle	rectum
37	chr15:44750600-44781400	Weak transcription	A549	lung
38	chr15:44750800-44757000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr15:44750800-44757000	Strong transcription	Primary B cells from peripheral blood	blood
40	chr15:44750800-44757000	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr15:44750800-44757400	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr15:44750800-44759600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr15:44751000-44756400	Weak transcription	Fetal Kidney	kidney
44	chr15:44751000-44756400	Weak transcription	Fetal Lung	lung
45	chr15:44751000-44761200	Weak transcription	Fetal Brain Male	brain
46	chr15:44751000-44795400	Weak transcription	Stomach Mucosa	stomach
47	chr15:44751200-44757000	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr15:44751200-44757000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr15:44751200-44757000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr15:44751200-44757200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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