Variant report

Variant	rs7523001
Chromosome Location	chr1:151776231-151776232
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:151774351..151777755-chr1:151779800..151782368,3	K562	blood:
2	chr1:151757663..151759545-chr1:151774572..151776785,2	K562	blood:
3	chr1:151764017..151766506-chr1:151773609..151776355,2	K562	blood:
4	chr1:151728568..151732479-chr1:151772767..151776235,3	K562	blood:
5	chr1:151774281..151778666-chr1:151812036..151815315,4	MCF-7	breast:
6	chr1:151763150..151767122-chr1:151771180..151776437,5	K562	blood:

Variant related genes	Relation type
ENSG00000203288	Chromatin interaction
ENSG00000201134	Chromatin interaction
ENSG00000236940	Chromatin interaction
ENSG00000225556	Chromatin interaction
ENSG00000234614	Chromatin interaction
ENSG00000182134	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1054475	0.85[EUR][1000 genomes]
rs1123855	0.85[EUR][1000 genomes]
rs11586691	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11806815	0.90[EUR][1000 genomes]
rs12748967	0.91[EUR][1000 genomes]
rs12756855	0.90[EUR][1000 genomes]
rs1623480	0.83[EUR][1000 genomes]
rs1781420	0.84[EUR][1000 genomes]
rs1781421	0.84[EUR][1000 genomes]
rs1781423	0.84[EUR][1000 genomes]
rs1781424	0.84[EUR][1000 genomes]
rs1915544	0.97[EUR][1000 genomes]
rs1996729	0.85[EUR][1000 genomes]
rs1996731	0.85[EUR][1000 genomes]
rs1996732	0.85[EUR][1000 genomes]
rs2460997	0.81[EUR][1000 genomes]
rs2495396	0.84[EUR][1000 genomes]
rs35077383	0.85[EUR][1000 genomes]
rs35834074	0.90[EUR][1000 genomes]
rs4240870	0.85[EUR][1000 genomes]
rs4484926	0.85[EUR][1000 genomes]
rs4634911	0.85[EUR][1000 genomes]
rs4845355	0.91[EUR][1000 genomes]
rs4845556	0.84[EUR][1000 genomes]
rs4995159	0.83[EUR][1000 genomes]
rs55982513	0.90[EUR][1000 genomes]
rs60136317	0.91[EUR][1000 genomes]
rs61815098	0.91[EUR][1000 genomes]
rs61815099	0.91[EUR][1000 genomes]
rs6587619	1.00[EUR][1000 genomes]
rs6672920	0.85[EUR][1000 genomes]
rs6680404	0.91[EUR][1000 genomes]
rs6684101	0.85[EUR][1000 genomes]
rs7529549	0.83[EUR][1000 genomes]
rs868866	0.90[EUR][1000 genomes]
rs868867	0.91[EUR][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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7523001	TDRKH	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151764200-151778800	Weak transcription	Pancreas	Pancrea
2	chr1:151764200-151779600	Weak transcription	Gastric	stomach
3	chr1:151764200-151787000	Weak transcription	Right Ventricle	heart
4	chr1:151764200-151792800	Weak transcription	Lung	lung
5	chr1:151764400-151779200	Weak transcription	Liver	Liver
6	chr1:151764400-151779800	Weak transcription	Brain Angular Gyrus	brain
7	chr1:151764600-151779400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr1:151764600-151779400	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr1:151764600-151782000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr1:151764600-151787600	Weak transcription	Primary T cells from cord blood	blood
11	chr1:151765000-151779400	Weak transcription	Brain Hippocampus Middle	brain
12	chr1:151765400-151784200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr1:151766000-151780200	Weak transcription	Dnd41	blood
14	chr1:151770800-151787200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr1:151771400-151778200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr1:151772200-151777600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr1:151773000-151778600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr1:151773200-151784800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr1:151773400-151784800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr1:151773400-151785000	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr1:151773600-151777400	Weak transcription	Fetal Thymus	thymus
22	chr1:151774200-151776600	Strong transcription	Thymus	Thymus
23	chr1:151774600-151787000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr1:151775800-151783600	Weak transcription	Psoas Muscle	Psoas
25	chr1:151776000-151776600	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr1:151776200-151776600	Active TSS	Spleen	Spleen
27	chr1:151776200-151779800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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