Variant report

Variant	rs4886492
Chromosome Location	chr15:76672817-76672818
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:76668083..76670224-chr15:76672287..76674754,2	MCF-7	breast:
2	chr15:76630618..76633246-chr15:76671829..76673785,2	K562	blood:
3	chr15:76670479..76673232-chr15:76675468..76677243,2	MCF-7	breast:

Extended variants
information (count: 76 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs157757	0.87[CEU][hapmap]
rs157760	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs157761	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs157762	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs157763	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs157766	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs157768	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs157769	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs157775	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs157777	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs157778	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs157779	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs157788	0.88[EUR][1000 genomes]
rs157789	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs166906	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs166933	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16968196	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs172244	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1810348	0.87[CEU][hapmap];0.90[CHB][hapmap]
rs182253	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1875883	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs190771	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs2078437	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2439992	0.86[CEU][hapmap]
rs2456066	0.87[CEU][hapmap]
rs2456070	0.87[CEU][hapmap]
rs2460153	1.00[CEU][hapmap]
rs2460158	0.85[CEU][hapmap]
rs2460161	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2469211	0.87[CEU][hapmap]
rs2469214	0.86[CEU][hapmap]
rs2469215	0.85[CEU][hapmap]
rs2469224	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2469535	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2469539	0.87[CEU][hapmap]
rs2469554	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2469556	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2469573	0.87[CEU][hapmap]
rs283796	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs283799	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs283802	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs284884	0.85[EUR][1000 genomes]
rs284885	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs284886	0.81[ASN][1000 genomes]
rs284893	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs284897	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs284898	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs284901	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs284902	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs284903	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs284904	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs284905	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs284907	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2938695	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2944377	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2948703	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2956873	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2956875	0.87[CEU][hapmap]
rs2957560	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2957607	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2957611	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2957612	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2957613	1.00[CEU][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs387321	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs403656	1.00[JPT][hapmap]
rs454381	0.90[ASN][1000 genomes]
rs480672	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4886490	0.86[CEU][hapmap];0.90[CHB][hapmap]
rs4886491	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs494268	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs506000	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs8031378	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8031672	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8042255	0.86[CEU][hapmap]
rs874224	0.86[CEU][hapmap];0.90[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv510667	chr15:76653359-76708310	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4886492	ISL2	Cis_1M	lymphoblastoid	RTeQTL
rs4886492	ISL2	cis	Whole Blood	GTEx

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76639800-76682600	Weak transcription	Pancreas	Pancrea
2	chr15:76639800-76695400	Weak transcription	Spleen	Spleen
3	chr15:76639800-76727400	Weak transcription	Right Ventricle	heart
4	chr15:76640800-76694600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr15:76641400-76694600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr15:76641800-76673400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr15:76642800-76693800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr15:76643800-76695000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr15:76645800-76686200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr15:76646600-76695400	Weak transcription	Ovary	ovary
11	chr15:76648400-76674400	Weak transcription	Brain Substantia Nigra	brain
12	chr15:76650800-76674000	Weak transcription	Small Intestine	intestine
13	chr15:76652400-76675200	Weak transcription	Brain Germinal Matrix	brain
14	chr15:76657400-76674000	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr15:76660200-76674400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr15:76660600-76674000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr15:76660800-76693600	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr15:76661000-76674200	Weak transcription	Lung	lung
19	chr15:76661000-76675600	Weak transcription	Colon Smooth Muscle	Colon
20	chr15:76661000-76676400	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr15:76661000-76685800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr15:76661000-76695200	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr15:76661000-76695400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr15:76661000-76695400	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr15:76661000-76708600	Weak transcription	Brain Anterior Caudate	brain
26	chr15:76661200-76675400	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr15:76661200-76698000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr15:76661200-76710800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr15:76661600-76698000	Weak transcription	Dnd41	blood
30	chr15:76662200-76674800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr15:76662400-76679000	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr15:76662400-76695400	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr15:76662800-76679200	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr15:76664800-76698000	Weak transcription	Brain Hippocampus Middle	brain
35	chr15:76665400-76674800	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr15:76666200-76673600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr15:76666200-76673800	Weak transcription	Aorta	Aorta
38	chr15:76666200-76674400	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr15:76666200-76679400	Weak transcription	Placenta	Placenta
40	chr15:76666200-76694600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr15:76666200-76696200	Weak transcription	Brain Angular Gyrus	brain
42	chr15:76666200-76706800	Weak transcription	Primary B cells from peripheral blood	blood
43	chr15:76666400-76694600	Weak transcription	Adipose Nuclei	Adipose
44	chr15:76666400-76695200	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr15:76666400-76695400	Weak transcription	Duodenum Mucosa	Duodenum
46	chr15:76666400-76698200	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr15:76666600-76695200	Weak transcription	Fetal Muscle Leg	muscle
48	chr15:76667200-76681600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr15:76668800-76673800	Weak transcription	Left Ventricle	heart
50	chr15:76668800-76679600	Weak transcription	Thymus	Thymus

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