Variant report

Variant	rs2412705
Chromosome Location	chr15:42642003-42642004
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	chr15:42636103..42638509-chr15:42640210..42643122,3	K562	blood:

Variant related genes	Relation type
ENSG00000214013	Chromatin interaction

Extended variants
information (count: 102 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs1062038	0.83[EUR][1000 genomes]
rs10775126	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10851407	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10851408	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10851409	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11070370	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1139100	0.83[EUR][1000 genomes]
rs11631917	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11631983	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11638784	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12438369	0.85[EUR][1000 genomes]
rs12438562	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12441642	0.83[EUR][1000 genomes]
rs12441700	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12594162	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12917101	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1359003	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1359004	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1619030	0.83[EUR][1000 genomes]
rs1659212	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1659213	0.94[ASN][1000 genomes]
rs1659217	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1659218	0.94[ASN][1000 genomes]
rs1659219	0.94[ASN][1000 genomes]
rs1659221	0.94[ASN][1000 genomes]
rs1659222	0.94[ASN][1000 genomes]
rs1678984	0.94[ASN][1000 genomes]
rs1678985	0.83[EUR][1000 genomes]
rs1678986	0.82[EUR][1000 genomes]
rs1678991	0.84[EUR][1000 genomes]
rs1678992	0.92[ASN][1000 genomes]
rs1678993	0.92[ASN][1000 genomes]
rs1679002	0.85[EUR][1000 genomes]
rs1679009	0.83[EUR][1000 genomes]
rs1679010	0.83[EUR][1000 genomes]
rs1703750	0.85[EUR][1000 genomes]
rs1703755	0.82[EUR][1000 genomes]
rs1712418	0.84[EUR][1000 genomes]
rs1712421	0.84[EUR][1000 genomes]
rs2138831	0.83[EUR][1000 genomes]
rs2289295	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2407707	0.88[EUR][1000 genomes]
rs2412682	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2412685	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28364388	0.86[EUR][1000 genomes]
rs28364390	0.85[EUR][1000 genomes]
rs28364416	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2918459	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2918460	0.94[ASN][1000 genomes]
rs2918461	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3743006	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3850774	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4329897	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4923940	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4923943	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4924645	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4924648	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4924653	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4924658	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4924660	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4924674	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56702977	0.86[EUR][1000 genomes]
rs57002846	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs57347762	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58313689	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs59132828	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs598360	0.85[EUR][1000 genomes]
rs622442	0.83[EUR][1000 genomes]
rs633934	0.83[EUR][1000 genomes]
rs6493027	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6493045	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs660126	0.87[EUR][1000 genomes]
rs677878	0.82[EUR][1000 genomes]
rs7163986	0.82[EUR][1000 genomes]
rs7166785	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7168709	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7175863	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7177120	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7181742	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7183015	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7183546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73400993	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs751572	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs765830	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8024732	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8025601	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8026198	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8031315	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8036046	0.87[EUR][1000 genomes]
rs8036187	0.87[EUR][1000 genomes]
rs8036380	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8036596	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8037020	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9672382	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9920921	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931223	chr15:41989960-42781757	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv1049445	chr15:42239738-42830484	Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv542366	chr15:42239738-42830484	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' 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
4	nsv904133	chr15:42528982-42681057	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	nsv832986	chr15:42587825-42753664	Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv832987	chr15:42627447-42792348	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv932995	chr15:42640015-42704121	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42568400-42656000	Weak transcription	Small Intestine	intestine
2	chr15:42603400-42648600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr15:42603400-42648600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr15:42604600-42651200	Weak transcription	Fetal Kidney	kidney
5	chr15:42617000-42645000	Weak transcription	NHLF	lung
6	chr15:42619600-42647200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr15:42619600-42656200	Weak transcription	HMEC	breast
8	chr15:42626800-42643400	Weak transcription	Fetal Thymus	thymus
9	chr15:42627600-42654600	Weak transcription	HSMM	muscle
10	chr15:42627800-42643800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr15:42630600-42650600	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr15:42630800-42646800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr15:42631600-42648600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr15:42631600-42649800	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr15:42631800-42643400	Weak transcription	HSMMtube	muscle
16	chr15:42631800-42649400	Weak transcription	Fetal Brain Male	brain
17	chr15:42631800-42651000	Weak transcription	Fetal Heart	heart
18	chr15:42632200-42652600	Strong transcription	Primary B cells from peripheral blood	blood
19	chr15:42633600-42643400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr15:42634400-42644600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr15:42634600-42642200	Strong transcription	Liver	Liver
22	chr15:42634600-42648000	Strong transcription	Sigmoid Colon	Sigmoid Colon
23	chr15:42634600-42648200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr15:42634600-42650400	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr15:42635200-42645000	Weak transcription	Dnd41	blood
26	chr15:42635200-42646400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr15:42635400-42644600	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr15:42636200-42645400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr15:42636400-42645400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr15:42636400-42646400	Weak transcription	Fetal Brain Female	brain
31	chr15:42636400-42647800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr15:42636400-42656600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr15:42636600-42643400	Weak transcription	Brain Substantia Nigra	brain
34	chr15:42636600-42645000	Weak transcription	Colon Smooth Muscle	Colon
35	chr15:42636800-42643400	Weak transcription	Gastric	stomach
36	chr15:42636800-42643600	Weak transcription	Placenta	Placenta
37	chr15:42636800-42644000	Weak transcription	Pancreas	Pancrea
38	chr15:42637000-42643200	Weak transcription	Brain Anterior Caudate	brain
39	chr15:42637000-42643400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr15:42637200-42643200	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr15:42637200-42653600	Weak transcription	Brain Germinal Matrix	brain
42	chr15:42637400-42643400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr15:42637400-42645600	Weak transcription	HUVEC	blood vessel
44	chr15:42637600-42647000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr15:42637800-42645800	Strong transcription	Fetal Stomach	stomach
46	chr15:42638000-42642200	Strong transcription	Adipose Nuclei	Adipose
47	chr15:42638200-42643600	Weak transcription	Brain Cingulate Gyrus	brain
48	chr15:42638200-42644800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr15:42638400-42651800	Weak transcription	Psoas Muscle	Psoas
50	chr15:42638600-42646000	Strong transcription	Skeletal Muscle Female	skeletal muscle

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