Variant report

Variant	rs62181018
Chromosome Location	chr2:191323295-191323296
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:191271518..191274523-chr2:191322577..191324895,3	K562	blood:
2	chr2:191322695..191327408-chr2:191328013..191334645,7	K562	blood:
3	chr2:191317071..191321557-chr2:191322471..191325941,5	K562	blood:

Variant related genes	Relation type
ENSG00000272979	Chromatin interaction
ENSG00000151690	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10084203	0.93[ASN][1000 genomes]
rs10174174	0.95[ASN][1000 genomes]
rs10188341	0.92[ASN][1000 genomes]
rs10190082	0.86[ASN][1000 genomes]
rs10197348	0.91[ASN][1000 genomes]
rs10432434	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10931451	0.87[ASN][1000 genomes]
rs10931458	0.86[ASN][1000 genomes]
rs1128723	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11885992	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12052514	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12053190	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12172905	0.87[ASN][1000 genomes]
rs12472081	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs12693579	0.81[ASN][1000 genomes]
rs13417431	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1866851	0.87[ASN][1000 genomes]
rs2192010	0.81[EUR][1000 genomes]
rs35818159	0.84[ASN][1000 genomes]
rs4129082	0.93[ASN][1000 genomes]
rs4258824	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4261750	0.93[ASN][1000 genomes]
rs4287794	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4340549	0.86[ASN][1000 genomes]
rs4371384	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4439990	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4641969	0.86[ASN][1000 genomes]
rs4853510	0.86[ASN][1000 genomes]
rs4853710	0.98[ASN][1000 genomes]
rs4853716	0.85[ASN][1000 genomes]
rs56127319	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56342910	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59929070	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60915953	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61709084	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62180987	0.87[ASN][1000 genomes]
rs62180990	0.84[ASN][1000 genomes]
rs62180992	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62181019	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62181020	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62181029	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs62181034	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62181052	0.84[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs62182865	0.81[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs62182897	0.81[EUR][1000 genomes]
rs6712426	0.85[ASN][1000 genomes]
rs6727669	0.85[ASN][1000 genomes]
rs6731287	0.86[ASN][1000 genomes]
rs7567059	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7569128	0.81[EUR][1000 genomes]
rs7581762	0.93[ASN][1000 genomes]
rs7581986	0.93[ASN][1000 genomes]
rs7593240	0.93[ASN][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	esv33134	chr2:191318791-191365710	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv962094	chr2:191318806-191324621	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs62181018	HIBCH	cis	Thyroid	GTEx
rs62181018	INPP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191302400-191331000	Weak transcription	A549	lung
2	chr2:191303800-191331600	Weak transcription	Brain Germinal Matrix	brain
3	chr2:191303800-191332600	Weak transcription	Fetal Intestine Large	intestine
4	chr2:191306600-191351000	Weak transcription	Pancreas	Pancrea
5	chr2:191308000-191328800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr2:191308800-191327200	Weak transcription	Right Atrium	heart
7	chr2:191309400-191331400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr2:191310200-191323600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr2:191310400-191331600	Weak transcription	Stomach Mucosa	stomach
10	chr2:191311400-191324200	Weak transcription	Fetal Heart	heart
11	chr2:191311600-191331400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr2:191311800-191324600	Weak transcription	Left Ventricle	heart
13	chr2:191311800-191331400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:191311800-191331400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr2:191311800-191331600	Weak transcription	Ovary	ovary
16	chr2:191312000-191332400	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr2:191312200-191324400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr2:191313000-191331400	Weak transcription	HSMMtube	muscle
19	chr2:191313000-191333600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr2:191313800-191323600	Weak transcription	Brain Anterior Caudate	brain
21	chr2:191314000-191331600	Weak transcription	Fetal Kidney	kidney
22	chr2:191315800-191327400	Weak transcription	Spleen	Spleen
23	chr2:191316600-191323400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr2:191316600-191324600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr2:191316600-191325200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr2:191316600-191331200	Weak transcription	NHLF	lung
27	chr2:191317000-191323600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr2:191317600-191331600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr2:191318600-191325200	Weak transcription	Brain Cingulate Gyrus	brain
30	chr2:191318800-191324600	Weak transcription	Brain Hippocampus Middle	brain
31	chr2:191318800-191324600	Weak transcription	Brain Substantia Nigra	brain
32	chr2:191319400-191323600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr2:191319400-191331800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr2:191319400-191332000	Weak transcription	Fetal Muscle Trunk	muscle
35	chr2:191319600-191323400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr2:191320800-191327800	Strong transcription	Primary T cells from cord blood	blood
37	chr2:191321000-191323400	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr2:191321000-191323600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr2:191321200-191325000	Strong transcription	Primary B cells from peripheral blood	blood
40	chr2:191321400-191324200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr2:191321600-191324200	Weak transcription	Duodenum Mucosa	Duodenum
42	chr2:191322000-191324600	Weak transcription	Gastric	stomach
43	chr2:191322000-191325400	Weak transcription	Lung	lung
44	chr2:191322000-191327400	Weak transcription	GM12878-XiMat	blood
45	chr2:191322000-191331600	Weak transcription	Fetal Brain Female	brain
46	chr2:191322000-191335800	Weak transcription	Esophagus	oesophagus
47	chr2:191322200-191323600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr2:191322200-191331400	Weak transcription	Fetal Stomach	stomach
49	chr2:191322400-191324000	Strong transcription	Fetal Muscle Leg	muscle
50	chr2:191322600-191325400	Weak transcription	Primary T helper cells PMA-I stimulated	--

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