Variant report

Variant	rs59929070
Chromosome Location	chr2:191327852-191327853
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:191271856..191274509-chr2:191327501..191329614,2	MCF-7	breast:
2	chr2:191244163..191247100-chr2:191325958..191329938,4	K562	blood:

Variant related genes	Relation type
ENSG00000151690	Chromatin interaction

Extended variants
information (count: 54 )
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];0.88[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];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11885992	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12052514	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12053190	0.91[AMR][1000 genomes];0.88[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];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1866851	0.87[ASN][1000 genomes]
rs2192010	0.82[EUR][1000 genomes]
rs35818159	0.84[ASN][1000 genomes]
rs4129082	0.93[ASN][1000 genomes]
rs4258824	0.91[AMR][1000 genomes];0.88[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];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4340549	0.86[ASN][1000 genomes]
rs4371384	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4439990	0.91[AMR][1000 genomes];0.88[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];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56342910	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60915953	0.85[AFR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61709084	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62180987	0.87[ASN][1000 genomes]
rs62180990	0.84[ASN][1000 genomes]
rs62180992	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62181018	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62181019	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62181020	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[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];0.90[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	0.82[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];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7569128	0.82[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:1 , 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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs59929070	HIBCH	cis	Thyroid	GTEx
rs59929070	INPP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:71 , 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	chr2:191309400-191331400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr2:191310400-191331600	Weak transcription	Stomach Mucosa	stomach
8	chr2:191311600-191331400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr2:191311800-191331400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:191311800-191331400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr2:191311800-191331600	Weak transcription	Ovary	ovary
12	chr2:191312000-191332400	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr2:191313000-191331400	Weak transcription	HSMMtube	muscle
14	chr2:191313000-191333600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr2:191314000-191331600	Weak transcription	Fetal Kidney	kidney
16	chr2:191316600-191331200	Weak transcription	NHLF	lung
17	chr2:191317600-191331600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:191319400-191331800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:191319400-191332000	Weak transcription	Fetal Muscle Trunk	muscle
20	chr2:191322000-191331600	Weak transcription	Fetal Brain Female	brain
21	chr2:191322000-191335800	Weak transcription	Esophagus	oesophagus
22	chr2:191322200-191331400	Weak transcription	Fetal Stomach	stomach
23	chr2:191322600-191328600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr2:191322600-191335600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr2:191322800-191329200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr2:191322800-191331200	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr2:191323000-191329000	Weak transcription	Fetal Thymus	thymus
28	chr2:191323000-191329200	Weak transcription	Thymus	Thymus
29	chr2:191323000-191331000	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr2:191323000-191334600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr2:191323200-191330800	Weak transcription	Dnd41	blood
32	chr2:191323200-191332400	Weak transcription	Fetal Intestine Small	intestine
33	chr2:191323200-191335800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr2:191323400-191333600	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr2:191323600-191328800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr2:191323800-191330800	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr2:191324000-191331400	Weak transcription	Fetal Muscle Leg	muscle
38	chr2:191324600-191328000	Enhancers	Brain Substantia Nigra	brain
39	chr2:191324600-191332400	Weak transcription	Duodenum Mucosa	Duodenum
40	chr2:191324800-191331200	Weak transcription	Fetal Lung	lung
41	chr2:191325000-191329200	Weak transcription	Primary B cells from peripheral blood	blood
42	chr2:191325400-191328000	Enhancers	Brain Anterior Caudate	brain
43	chr2:191325400-191328600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr2:191325400-191331400	Weak transcription	Fetal Heart	heart
45	chr2:191325400-191332600	Weak transcription	Gastric	stomach
46	chr2:191325600-191331600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr2:191325600-191335800	Weak transcription	Lung	lung
48	chr2:191325600-191346200	Weak transcription	Right Ventricle	heart
49	chr2:191326200-191329600	Weak transcription	Primary hematopoietic stem cells	blood
50	chr2:191326400-191328800	Weak transcription	Left Ventricle	heart

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