Variant report

Variant	rs8038991
Chromosome Location	chr15:74305650-74305651
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	chr15:74286453..74288589-chr15:74305603..74307209,2	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];0.92[ASN][1000 genomes]
rs1052246	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10851866	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10851867	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10851868	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11072458	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11072461	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11072462	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11072463	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11072464	0.80[AMR][1000 genomes]
rs11633735	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11635930	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11636016	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11636065	0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11636150	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11854321	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11857498	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12593528	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12899085	0.82[AMR][1000 genomes]
rs12901603	0.81[AMR][1000 genomes]
rs12902857	0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12902945	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12904213	0.80[AMR][1000 genomes]
rs12908748	0.82[AMR][1000 genomes]
rs12910581	0.89[AMR][1000 genomes]
rs12911807	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12911984	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2165242	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2277599	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2304715	0.81[AMR][1000 genomes]
rs2304716	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2415206	0.85[AMR][1000 genomes]
rs3784561	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3784562	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4287518	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4547288	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4886820	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4886844	0.80[AMR][1000 genomes]
rs4886845	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4886846	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs56194867	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7183908	0.85[ASN][1000 genomes]
rs734854	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs743580	0.87[ASN][1000 genomes]
rs752004	0.87[ASN][1000 genomes]
rs8027327	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs8027447	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs8028557	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8039276	0.81[AMR][1000 genomes]
rs8039404	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8043489	0.80[AMR][1000 genomes]
rs9479	0.87[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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74288200-74331000	Weak transcription	Fetal Heart	heart
2	chr15:74289800-74331000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr15:74290000-74314800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr15:74291000-74311200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr15:74291000-74314800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr15:74291000-74315000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr15:74291000-74315200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr15:74291800-74314800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr15:74292000-74315200	Weak transcription	Fetal Brain Female	brain
10	chr15:74292000-74329200	Weak transcription	Fetal Brain Male	brain
11	chr15:74296600-74315200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr15:74296800-74315200	Weak transcription	Brain Germinal Matrix	brain
13	chr15:74297000-74315200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr15:74297000-74315600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr15:74298200-74311200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr15:74299200-74315400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr15:74299400-74315400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr15:74299600-74308200	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr15:74300000-74314800	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr15:74300400-74307000	Weak transcription	HSMMtube	muscle
21	chr15:74300400-74315800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr15:74300600-74307600	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr15:74300600-74307800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr15:74300600-74315200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr15:74300800-74306400	Weak transcription	HSMM	muscle
26	chr15:74300800-74315200	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr15:74300800-74315200	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr15:74300800-74315200	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr15:74300800-74326000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr15:74302400-74312800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr15:74302400-74331000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr15:74303200-74306600	ZNF genes & repeats	GM12878-XiMat	blood
33	chr15:74303600-74331600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr15:74303800-74307200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr15:74303800-74315000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr15:74304000-74306400	Weak transcription	Lung	lung
37	chr15:74304000-74306400	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr15:74304000-74306600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr15:74304000-74306600	Enhancers	Liver	Liver
40	chr15:74304000-74307800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr15:74304000-74314800	Weak transcription	Brain Hippocampus Middle	brain
42	chr15:74304000-74314800	Weak transcription	NH-A	brain
43	chr15:74304000-74315200	Weak transcription	Brain Anterior Caudate	brain
44	chr15:74304000-74315200	Weak transcription	Brain Substantia Nigra	brain
45	chr15:74304000-74315200	Weak transcription	Psoas Muscle	Psoas
46	chr15:74304000-74326000	Weak transcription	Fetal Kidney	kidney
47	chr15:74304200-74306200	Weak transcription	NHLF	lung
48	chr15:74304200-74306400	Weak transcription	Fetal Intestine Large	intestine
49	chr15:74304200-74306400	Weak transcription	Fetal Muscle Leg	muscle
50	chr15:74304200-74306400	Weak transcription	Fetal Stomach	stomach

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