Variant report

Variant	rs12971694
Chromosome Location	chr19:36866498-36866499
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	chr19:36866113..36867670-chr19:37018498..37020110,2	K562	blood:

Variant related genes	Relation type
ENSG00000254004	Chromatin interaction
ENSG00000228629	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10402405	0.80[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs10404574	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10414054	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10418510	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10420610	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10426014	0.88[EUR][1000 genomes]
rs10439091	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12459465	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12976881	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2271844	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2385799	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2385800	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2385801	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2385803	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2385805	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2918349	0.84[ASN][1000 genomes]
rs2945945	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2945948	0.85[EUR][1000 genomes]
rs2945949	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2945950	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2945951	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2945957	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2945961	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2945963	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2945971	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2945972	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2945992	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2945993	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2945994	0.85[ASN][1000 genomes]
rs2945995	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2967484	0.83[ASN][1000 genomes]
rs2967493	0.82[ASN][1000 genomes]
rs2967496	0.82[ASN][1000 genomes]
rs2967501	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2967504	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2967506	0.92[ASN][1000 genomes]
rs2967509	0.94[ASN][1000 genomes]
rs2967510	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2967512	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2967515	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2967517	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2967518	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2967521	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2967523	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2967524	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2967526	0.83[EUR][1000 genomes]
rs2967543	0.88[EUR][1000 genomes]
rs2972633	0.83[ASN][1000 genomes]
rs4806321	0.82[ASN][1000 genomes]
rs5021030	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58703752	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs62112565	0.82[ASN][1000 genomes]
rs6417185	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6510541	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6510542	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7246106	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7251979	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7255260	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7255403	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8106095	0.92[ASN][1000 genomes]
rs8109320	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8109333	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8112312	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8182628	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[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	nsv833816	chr19:36824257-37034287	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12971694	LOC284412	N/A	lymphoblastoid	RTeQTL

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36830600-36869400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr19:36832200-36868600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr19:36834200-36868800	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr19:36835800-36868800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr19:36836400-36868000	Weak transcription	Psoas Muscle	Psoas
6	chr19:36838000-36868600	Weak transcription	Stomach Mucosa	stomach
7	chr19:36844200-36868800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr19:36850000-36868000	Weak transcription	Fetal Heart	heart
9	chr19:36852200-36867600	Weak transcription	HepG2	liver
10	chr19:36856600-36868400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr19:36858000-36868600	Weak transcription	Brain Substantia Nigra	brain
12	chr19:36858000-36869400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr19:36858400-36868200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr19:36858400-36868800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr19:36858400-36869400	Weak transcription	Left Ventricle	heart
16	chr19:36858600-36868600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr19:36858600-36868600	Weak transcription	Brain Anterior Caudate	brain
18	chr19:36858600-36869200	Weak transcription	Pancreas	Pancrea
19	chr19:36858600-36869200	Weak transcription	Right Ventricle	heart
20	chr19:36858800-36868600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr19:36859000-36868400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr19:36859000-36868800	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr19:36859000-36868800	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr19:36859000-36869000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr19:36859600-36867600	Weak transcription	Colon Smooth Muscle	Colon
26	chr19:36861600-36868800	Weak transcription	Rectal Smooth Muscle	rectum
27	chr19:36861800-36867600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr19:36861800-36867800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr19:36861800-36868000	Weak transcription	Fetal Brain Male	brain
30	chr19:36861800-36868400	Weak transcription	Ovary	ovary
31	chr19:36861800-36868600	Weak transcription	Adipose Nuclei	Adipose
32	chr19:36861800-36868600	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr19:36861800-36868600	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr19:36861800-36868600	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr19:36861800-36868600	Weak transcription	Thymus	Thymus
36	chr19:36861800-36868800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr19:36861800-36869000	Weak transcription	Gastric	stomach
38	chr19:36861800-36869200	Weak transcription	Aorta	Aorta
39	chr19:36862200-36869000	Weak transcription	Spleen	Spleen
40	chr19:36862800-36868600	Weak transcription	Primary B cells from peripheral blood	blood
41	chr19:36863600-36868800	ZNF genes & repeats	A549	lung
42	chr19:36863800-36868200	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr19:36863800-36868200	Weak transcription	Fetal Muscle Trunk	muscle
44	chr19:36863800-36868600	Weak transcription	Fetal Kidney	kidney
45	chr19:36864000-36867800	Weak transcription	Fetal Lung	lung
46	chr19:36864000-36868200	Weak transcription	Fetal Muscle Leg	muscle
47	chr19:36864400-36867600	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr19:36864400-36868600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr19:36865000-36868600	Weak transcription	Small Intestine	intestine
50	chr19:36865200-36867600	Weak transcription	Primary B cells from cord blood	blood

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