Variant report

Variant	rs11631917
Chromosome Location	chr15:42571753-42571754
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:42563158..42565885-chr15:42567865..42572400,4	MCF-7	breast:
2	chr15:42568840..42573155-chr15:42578082..42582332,4	K562	blood:
3	chr15:42564714..42568797-chr15:42571510..42577176,8	K562	blood:
4	chr15:42564172..42566903-chr15:42569265..42571976,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000103978	Chromatin interaction
ENSG00000214013	Chromatin interaction

Extended variants
information (count: 95 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10775126	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10851407	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10851408	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10851409	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11070370	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11631983	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11638784	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12438562	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12441642	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12441700	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12594162	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12917101	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1359003	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1359004	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1619030	0.85[EUR][1000 genomes]
rs1659212	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1659213	0.94[ASN][1000 genomes]
rs1659217	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[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	0.90[EUR][1000 genomes]
rs1678986	0.89[EUR][1000 genomes]
rs1678991	0.91[EUR][1000 genomes]
rs1678992	0.95[ASN][1000 genomes]
rs1678993	0.95[ASN][1000 genomes]
rs1679002	0.88[EUR][1000 genomes]
rs1679009	0.85[EUR][1000 genomes]
rs1679010	0.85[EUR][1000 genomes]
rs1703750	0.88[EUR][1000 genomes]
rs1703755	0.89[EUR][1000 genomes]
rs1712418	0.91[EUR][1000 genomes]
rs1712421	0.91[EUR][1000 genomes]
rs2138831	0.90[EUR][1000 genomes]
rs2289295	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2407707	0.80[EUR][1000 genomes]
rs2412682	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2412685	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2412705	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28364416	0.80[ASN][1000 genomes]
rs2918459	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2918460	0.94[ASN][1000 genomes]
rs2918461	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3743006	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3850774	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4329897	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4923940	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4923943	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4924645	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4924648	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4924653	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4924658	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4924660	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4924674	0.87[EUR][1000 genomes]
rs57002846	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs57347762	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58313689	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs59132828	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs598360	0.88[EUR][1000 genomes]
rs622442	0.85[EUR][1000 genomes]
rs633934	0.85[EUR][1000 genomes]
rs6493027	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6493045	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs660126	0.89[EUR][1000 genomes]
rs677878	0.89[EUR][1000 genomes]
rs7086	0.80[EUR][1000 genomes]
rs7166785	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7168709	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7175863	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7177120	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7181742	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7183015	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7183546	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73400993	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs751572	0.85[ASN][1000 genomes]
rs765830	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8024732	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8025601	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8026198	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8031315	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8036046	0.94[EUR][1000 genomes]
rs8036187	0.94[EUR][1000 genomes]
rs8036380	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8036596	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8037020	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9672382	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9920921	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][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	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	nsv529687	chr15:42157320-42621682	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	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
4	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
5	esv1807328	chr15:42525300-42573278	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	28 gene(s)	inside rSNPs	diseases
6	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42566400-42576000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:42566600-42575000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr15:42567000-42578600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr15:42567200-42573000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr15:42567200-42577200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr15:42567200-42577800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr15:42567200-42583800	Weak transcription	Fetal Kidney	kidney
8	chr15:42567200-42623600	Weak transcription	Fetal Brain Male	brain
9	chr15:42567600-42572400	Weak transcription	Fetal Thymus	thymus
10	chr15:42567600-42573000	Weak transcription	Esophagus	oesophagus
11	chr15:42567600-42578400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr15:42567600-42579200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr15:42568400-42574800	Weak transcription	Psoas Muscle	Psoas
14	chr15:42568400-42604600	Weak transcription	NH-A	brain
15	chr15:42568400-42656000	Weak transcription	Small Intestine	intestine
16	chr15:42568600-42572000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr15:42568600-42572600	Weak transcription	Fetal Intestine Small	intestine
18	chr15:42568600-42573000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr15:42568600-42573000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr15:42568600-42575000	Weak transcription	A549	lung
21	chr15:42568600-42581200	Weak transcription	HUVEC	blood vessel
22	chr15:42568600-42581400	Weak transcription	Stomach Mucosa	stomach
23	chr15:42568600-42583800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr15:42568600-42584600	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr15:42568600-42584800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr15:42568600-42585000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr15:42568600-42585200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr15:42568600-42587000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr15:42568600-42587000	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr15:42568600-42593000	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr15:42568600-42602600	Weak transcription	Fetal Heart	heart
32	chr15:42568600-42630800	Weak transcription	Dnd41	blood
33	chr15:42568800-42572800	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr15:42568800-42575200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr15:42568800-42577400	Weak transcription	Hela-S3	cervix
36	chr15:42568800-42577800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr15:42568800-42583600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr15:42569000-42591000	Strong transcription	Primary B cells from peripheral blood	blood
39	chr15:42569200-42572800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr15:42569200-42577200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr15:42569400-42577000	Strong transcription	Fetal Stomach	stomach
42	chr15:42569400-42602800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr15:42570000-42576600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr15:42570200-42572200	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr15:42570200-42573600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr15:42570200-42574000	Strong transcription	HSMM	muscle
47	chr15:42570200-42576400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr15:42570200-42577000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr15:42570200-42577200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr15:42570200-42577200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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