Variant report

Variant	rs16968196
Chromosome Location	chr15:76682238-76682239
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs157760	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs157761	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs157762	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs157768	0.86[EUR][1000 genomes]
rs157769	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs157775	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs157778	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs157788	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs157789	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs166906	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs166933	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs172244	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs182253	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1875883	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2078437	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2460161	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2469224	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2469535	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2469554	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2469556	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs283796	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs283799	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs283802	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs284884	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs284885	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs284886	0.81[ASN][1000 genomes]
rs284893	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs284897	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs284898	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs284901	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs284902	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs284903	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs284904	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs284905	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs284907	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2938695	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2944377	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2948703	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2956873	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2957560	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2957607	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2957611	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2957612	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2957613	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs387321	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs454381	0.90[ASN][1000 genomes]
rs4886491	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4886492	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs494268	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs506000	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8031378	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8031672	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs16968196	RP11-685G9.2	cis	Whole Blood	GTEx
rs16968196	ISL2	Cis_1M	lymphoblastoid	RTeQTL
rs16968196	ISL2	cis	Whole Blood	GTEx

Chromatin state (count:48 , 50 per page) page: 1

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	chr15:76642800-76693800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr15:76643800-76695000	Weak transcription	Primary hematopoietic stem cells	blood
8	chr15:76645800-76686200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr15:76646600-76695400	Weak transcription	Ovary	ovary
10	chr15:76660800-76693600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr15:76661000-76685800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr15:76661000-76695200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr15:76661000-76695400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr15:76661000-76695400	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr15:76661000-76708600	Weak transcription	Brain Anterior Caudate	brain
16	chr15:76661200-76698000	Weak transcription	Rectal Smooth Muscle	rectum
17	chr15:76661200-76710800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr15:76661600-76698000	Weak transcription	Dnd41	blood
19	chr15:76662400-76695400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr15:76664800-76698000	Weak transcription	Brain Hippocampus Middle	brain
21	chr15:76666200-76694600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr15:76666200-76696200	Weak transcription	Brain Angular Gyrus	brain
23	chr15:76666200-76706800	Weak transcription	Primary B cells from peripheral blood	blood
24	chr15:76666400-76694600	Weak transcription	Adipose Nuclei	Adipose
25	chr15:76666400-76695200	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr15:76666400-76695400	Weak transcription	Duodenum Mucosa	Duodenum
27	chr15:76666400-76698200	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr15:76666600-76695200	Weak transcription	Fetal Muscle Leg	muscle
29	chr15:76668800-76695000	Weak transcription	Fetal Brain Female	brain
30	chr15:76668800-76695400	Weak transcription	Fetal Muscle Trunk	muscle
31	chr15:76669600-76695200	Weak transcription	Stomach Smooth Muscle	stomach
32	chr15:76669800-76693600	Weak transcription	Fetal Intestine Large	intestine
33	chr15:76669800-76694200	Weak transcription	Psoas Muscle	Psoas
34	chr15:76670600-76683400	Weak transcription	HepG2	liver
35	chr15:76673200-76686000	Weak transcription	Fetal Stomach	stomach
36	chr15:76673200-76727400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr15:76673800-76694800	Weak transcription	Primary B cells from cord blood	blood
38	chr15:76674400-76695400	Weak transcription	Lung	lung
39	chr15:76674600-76694800	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr15:76674600-76718400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr15:76675200-76682800	Weak transcription	Aorta	Aorta
42	chr15:76675800-76696200	Weak transcription	Fetal Brain Male	brain
43	chr15:76678200-76695200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr15:76678200-76695400	Weak transcription	Left Ventricle	heart
45	chr15:76679600-76693800	Weak transcription	Liver	Liver
46	chr15:76680600-76685000	Weak transcription	Primary T cells from cord blood	blood
47	chr15:76682000-76682600	Strong transcription	Fetal Intestine Small	intestine
48	chr15:76682200-76683000	Enhancers	Primary neutrophils fromperipheralblood	blood

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