Variant report

Variant	rs1976294
Chromosome Location	chr12:56830110-56830111
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:56825502..56827188-chr12:56829411..56831009,2	K562	blood:
2	chr12:56708477..56711589-chr12:56829943..56832249,3	K562	blood:
3	chr12:56816366..56820011-chr12:56829116..56832122,4	K562	blood:
4	chr12:56816330..56820698-chr12:56827397..56831177,4	K562	blood:
5	chr12:56827738..56829538-chr12:56829816..56833638,4	K562	blood:
6	chr12:56827605..56830208-chr12:56835234..56837438,3	K562	blood:
7	chr12:56727279..56730018-chr12:56830009..56833099,3	K562	blood:
8	chr12:56811830..56813954-chr12:56828376..56831267,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000144785	Chromatin interaction
ENSG00000257727	Chromatin interaction
ENSG00000135473	Chromatin interaction
ENSG00000111602	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10876889	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10876890	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11171847	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11171848	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11171849	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11171850	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11171852	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11171856	0.83[ASN][1000 genomes]
rs11610921	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11833581	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11833583	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12299614	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12313431	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12316810	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12815993	0.84[ASN][1000 genomes]
rs2279665	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2291739	0.84[EUR][1000 genomes]
rs2371455	0.82[ASN][1000 genomes]
rs2638304	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34520497	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34644700	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35634983	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3782237	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3809125	0.80[ASN][1000 genomes]
rs6581094	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6581095	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67027355	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs703829	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7305989	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7312888	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs774026	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs774027	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs774031	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs774032	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs774033	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs774034	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs774035	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs774036	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs774037	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs774039	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs774047	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7977477	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs812278	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs812279	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043622	chr12:56571476-56974448	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
2	nsv541500	chr12:56571476-56974448	Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1976294	TIMELESS	cis	brain	BrainEAC

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56799400-56831600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:56806000-56831200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:56811800-56830400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr12:56811800-56842400	Weak transcription	Colon Smooth Muscle	Colon
5	chr12:56813000-56842600	Weak transcription	Fetal Heart	heart
6	chr12:56813200-56841200	Weak transcription	Fetal Kidney	kidney
7	chr12:56813800-56842400	Weak transcription	Right Atrium	heart
8	chr12:56816200-56842400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr12:56816600-56836400	Weak transcription	HMEC	breast
10	chr12:56818800-56833200	Weak transcription	Left Ventricle	heart
11	chr12:56822600-56836000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:56822800-56836200	Weak transcription	Colonic Mucosa	Colon
13	chr12:56822800-56838000	Weak transcription	HUVEC	blood vessel
14	chr12:56824800-56831400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr12:56825000-56833000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr12:56825400-56842000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr12:56825800-56836600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr12:56826200-56842400	Weak transcription	NH-A	brain
19	chr12:56826400-56841800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr12:56826400-56842200	Weak transcription	HSMM	muscle
21	chr12:56826400-56842400	Weak transcription	NHDF-Ad	bronchial
22	chr12:56827200-56831200	Weak transcription	Brain Anterior Caudate	brain
23	chr12:56827200-56842600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr12:56827400-56831000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr12:56827600-56830600	Weak transcription	Fetal Intestine Large	intestine
26	chr12:56827600-56831000	Weak transcription	Pancreas	Pancrea
27	chr12:56827600-56831200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr12:56827600-56831400	Weak transcription	Fetal Lung	lung
29	chr12:56827600-56836000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr12:56827800-56830400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr12:56827800-56831400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr12:56827800-56836000	Weak transcription	NHEK	skin
33	chr12:56827800-56836800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr12:56827800-56836800	Weak transcription	Fetal Intestine Small	intestine
35	chr12:56827800-56837800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr12:56827800-56841200	Weak transcription	HepG2	liver
37	chr12:56827800-56841800	Weak transcription	Primary B cells from cord blood	blood
38	chr12:56827800-56841800	Weak transcription	Lung	lung
39	chr12:56827800-56842200	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr12:56827800-56842400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr12:56827800-56842400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr12:56827800-56842400	Weak transcription	Fetal Muscle Leg	muscle
43	chr12:56827800-56842400	Weak transcription	Fetal Stomach	stomach
44	chr12:56827800-56842400	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr12:56827800-56842600	Weak transcription	Spleen	Spleen
46	chr12:56828000-56830200	Weak transcription	Gastric	stomach
47	chr12:56828000-56830200	Weak transcription	K562	blood
48	chr12:56828000-56831200	Weak transcription	Primary T cells from cord blood	blood
49	chr12:56828000-56831400	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr12:56828000-56831400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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