Variant report

Variant	rs939594
Chromosome Location	chr1:151783597-151783598
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151782530..151784073-chr1:151786913..151788709,2	MCF-7	breast:
2	chr1:151512189..151513812-chr1:151782717..151784930,2	MCF-7	breast:
3	chr1:151782426..151784318-chr1:151786868..151789342,2	MCF-7	breast:
4	chr1:151781556..151784373-chr1:151812437..151814375,2	MCF-7	breast:
5	chr1:151771040..151773951-chr1:151782694..151784484,3	K562	blood:
6	chr1:151781396..151783619-chr1:151785148..151786691,2	MCF-7	breast:
7	chr1:151782043..151784964-chr1:151791094..151793186,2	K562	blood:
8	chr1:151782377..151784450-chr1:151790300..151792878,2	MCF-7	breast:
9	chr1:151686149..151687760-chr1:151781194..151783599,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143367	Chromatin interaction
ENSG00000232536	Chromatin interaction
ENSG00000143365	Chromatin interaction
ENSG00000225556	Chromatin interaction
ENSG00000234614	Chromatin interaction
ENSG00000201134	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs4845587	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs939595	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[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	nsv1010398	chr1:151761649-151790940	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv516369	chr1:151780177-151820324	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	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
rs939594	TDRKH	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151764200-151787000	Weak transcription	Right Ventricle	heart
2	chr1:151764200-151792800	Weak transcription	Lung	lung
3	chr1:151764600-151787600	Weak transcription	Primary T cells from cord blood	blood
4	chr1:151765400-151784200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr1:151770800-151787200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr1:151773200-151784800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr1:151773400-151784800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr1:151773400-151785000	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr1:151774600-151787000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:151775800-151783600	Weak transcription	Psoas Muscle	Psoas
11	chr1:151776600-151787200	Weak transcription	Spleen	Spleen
12	chr1:151778400-151786000	Strong transcription	Thymus	Thymus
13	chr1:151778400-151792800	Weak transcription	Left Ventricle	heart
14	chr1:151778600-151792000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr1:151778600-151802400	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr1:151778800-151789200	Weak transcription	Fetal Intestine Small	intestine
17	chr1:151779000-151787000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr1:151779200-151783800	Strong transcription	Liver	Liver
19	chr1:151779400-151784200	Enhancers	Brain Hippocampus Middle	brain
20	chr1:151780000-151793400	Weak transcription	Stomach Mucosa	stomach
21	chr1:151780200-151785400	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr1:151780200-151786800	Weak transcription	Gastric	stomach
23	chr1:151780600-151783600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:151780800-151785400	Weak transcription	Dnd41	blood
25	chr1:151780800-151786600	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr1:151781000-151786000	Strong transcription	Fetal Thymus	thymus
27	chr1:151781600-151783600	Weak transcription	Pancreas	Pancrea
28	chr1:151781600-151784000	Enhancers	Brain Substantia Nigra	brain
29	chr1:151781600-151784200	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr1:151781800-151783600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:151781800-151783600	Enhancers	Hela-S3	cervix
32	chr1:151781800-151787600	Strong transcription	Duodenum Mucosa	Duodenum
33	chr1:151781800-151788400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr1:151782000-151791000	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr1:151782200-151784000	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr1:151782200-151789000	Weak transcription	Esophagus	oesophagus
37	chr1:151782600-151783600	Weak transcription	Adipose Nuclei	Adipose
38	chr1:151782600-151783600	Weak transcription	Brain Angular Gyrus	brain
39	chr1:151782600-151787000	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr1:151782800-151783600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr1:151782800-151786000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr1:151782800-151790400	Strong transcription	Skeletal Muscle Male	skeletal muscle
43	chr1:151783000-151784000	Weak transcription	Placenta	Placenta
44	chr1:151783200-151783600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr1:151783200-151783600	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr1:151783200-151783600	Enhancers	HSMM	muscle
47	chr1:151783200-151783600	Enhancers	HSMMtube	muscle
48	chr1:151783200-151783800	Weak transcription	Brain Anterior Caudate	brain
49	chr1:151783400-151784200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr1:151783400-151784400	Enhancers	Fetal Muscle Leg	muscle

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