Variant report

Variant	rs12911807
Chromosome Location	chr15:74302634-74302635
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:74299747..74301420-chr15:74301647..74303236,2	MCF-7	breast:
2	chr15:74285628..74288607-chr15:74300001..74303311,3	K562	blood:
3	chr15:74283960..74290618-chr15:74296413..74304371,10	MCF-7	breast:
4	chr15:74301606..74304928-chr15:74311289..74313632,4	MCF-7	breast:
5	chr15:74277595..74279838-chr15:74301921..74304643,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000067221	Chromatin interaction
ENSG00000140464	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1052242	0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1052246	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10851866	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10851867	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10851868	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11072458	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11072461	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11072462	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11072463	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11072464	0.80[AMR][1000 genomes]
rs11633735	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11635930	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11636016	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11636065	0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11636150	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11854321	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11857498	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12593528	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12899085	0.82[AMR][1000 genomes]
rs12901603	0.81[AMR][1000 genomes]
rs12902857	0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12902945	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12904213	0.80[AMR][1000 genomes]
rs12908748	0.82[AMR][1000 genomes]
rs12910581	0.89[AMR][1000 genomes]
rs12911984	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2165242	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2277599	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2304715	0.81[AMR][1000 genomes]
rs2304716	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2415206	0.85[AMR][1000 genomes]
rs3784561	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3784562	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4287518	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4547288	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4886820	0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4886844	0.80[AMR][1000 genomes]
rs4886845	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4886846	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs56194867	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7183908	0.86[ASN][1000 genomes]
rs734854	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs743580	0.91[ASN][1000 genomes]
rs752004	0.90[ASN][1000 genomes]
rs8027327	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs8027447	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs8028557	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8038991	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8039276	0.81[AMR][1000 genomes]
rs8039404	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8043489	0.80[AMR][1000 genomes]
rs9479	0.90[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	esv2758387	chr15:74215114-74464916	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv2760040	chr15:74215114-74464916	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv428308	chr15:74215114-74464916	Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv833052	chr15:74250378-74377150	Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv518316	chr15:74290993-74331083	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv469619	chr15:74291859-74466321	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv482362	chr15:74291859-74466321	Strong transcription Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers 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	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74288200-74303000	Weak transcription	A549	lung
2	chr15:74288200-74303800	Weak transcription	Brain Angular Gyrus	brain
3	chr15:74288200-74331000	Weak transcription	Fetal Heart	heart
4	chr15:74289800-74303200	Weak transcription	Brain Substantia Nigra	brain
5	chr15:74289800-74331000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr15:74290000-74303400	Weak transcription	Fetal Kidney	kidney
7	chr15:74290000-74314800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr15:74291000-74311200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr15:74291000-74314800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr15:74291000-74315000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr15:74291000-74315200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr15:74291800-74314800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr15:74292000-74315200	Weak transcription	Fetal Brain Female	brain
14	chr15:74292000-74329200	Weak transcription	Fetal Brain Male	brain
15	chr15:74293400-74303600	Weak transcription	NH-A	brain
16	chr15:74296600-74315200	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr15:74296800-74315200	Weak transcription	Brain Germinal Matrix	brain
18	chr15:74297000-74315200	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr15:74297000-74315600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr15:74298000-74303800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr15:74298000-74304200	Enhancers	Right Atrium	heart
22	chr15:74298200-74303000	Enhancers	Liver	Liver
23	chr15:74298200-74311200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr15:74298400-74303000	Weak transcription	HepG2	liver
25	chr15:74299000-74304200	Enhancers	Right Ventricle	heart
26	chr15:74299200-74303600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr15:74299200-74315400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr15:74299400-74304000	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr15:74299400-74304600	Enhancers	Left Ventricle	heart
30	chr15:74299400-74315400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr15:74299600-74308200	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr15:74299800-74303200	Weak transcription	HMEC	breast
33	chr15:74299800-74303400	Weak transcription	Fetal Intestine Large	intestine
34	chr15:74299800-74303800	Genic enhancers	Fetal Muscle Leg	muscle
35	chr15:74300000-74314800	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr15:74300200-74302800	Enhancers	Primary T cells fromperipheralblood	blood
37	chr15:74300200-74302800	Weak transcription	Brain Hippocampus Middle	brain
38	chr15:74300400-74303400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr15:74300400-74303800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr15:74300400-74304200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr15:74300400-74307000	Weak transcription	HSMMtube	muscle
42	chr15:74300400-74315800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr15:74300600-74303000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr15:74300600-74303000	Enhancers	Stomach Smooth Muscle	stomach
45	chr15:74300600-74303000	Weak transcription	Dnd41	blood
46	chr15:74300600-74303000	Weak transcription	NHLF	lung
47	chr15:74300600-74303400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr15:74300600-74303400	Weak transcription	Aorta	Aorta
49	chr15:74300600-74303400	Weak transcription	Brain Anterior Caudate	brain
50	chr15:74300600-74303400	Enhancers	Stomach Mucosa	stomach

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