Variant report

Variant	rs2001330
Chromosome Location	chr7:129304415-129304416
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:129303862..129304866-chr7:129650718..129651307,3	MCF-7	breast:
2	chr7:129303280..129305949-chr7:129417875..129421577,3	K562	blood:
3	chr7:129304389..129308303-chr7:129309570..129312767,4	K562	blood:
4	chr7:129304062..129304808-chr7:129438935..129439437,2	K562	blood:
5	chr7:129303980..129305044-chr7:129649293..129651486,10	K562	blood:
6	chr7:129275095..129276059-chr7:129303973..129304920,2	K562	blood:
7	chr7:129303698..129305924-chr7:129463932..129466557,2	MCF-7	breast:
8	chr7:129303898..129304485-chr7:129418948..129419668,2	K562	blood:
9	chr7:129303978..129305426-chr7:129469553..129470544,8	K562	blood:
10	chr7:129303349..129305568-chr7:129461167..129463400,2	K562	blood:
11	chr7:129302797..129305366-chr7:129652511..129655155,2	MCF-7	breast:
12	chr7:129302884..129306085-chr7:129464127..129467247,3	MCF-7	breast:
13	chr7:129303697..129305648-chr7:129464306..129466248,38	K562	blood:
14	chr7:129304033..129305187-chr7:129464379..129466144,7	MCF-7	breast:
15	chr7:129304139..129306866-chr7:129308475..129310745,2	MCF-7	breast:
16	chr7:129304361..129304864-chr7:129650540..129651263,2	MCF-7	breast:
17	chr7:129304013..129304684-chr7:129465631..129466183,2	MCF-7	breast:

No data

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10500119	0.87[ASN][1000 genomes]
rs12536883	1.00[AFR][1000 genomes]
rs17160984	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17555024	1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs17555614	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17556694	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs17556909	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs17630605	1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs17637863	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs1986403	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs3735006	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3800602	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];1.00[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs4388399	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs4728170	1.00[AFR][1000 genomes]
rs4728172	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4728176	1.00[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs4731602	1.00[AFR][1000 genomes]
rs4731609	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4731616	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4731619	1.00[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs4731622	1.00[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs7782840	1.00[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2001330	CPA2	cis	lymphoblastoid	seeQTL

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129283800-129331600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr7:129289200-129314000	Weak transcription	Fetal Brain Male	brain
3	chr7:129290000-129325800	Weak transcription	Stomach Mucosa	stomach
4	chr7:129290400-129304600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr7:129293800-129311200	Weak transcription	Brain Anterior Caudate	brain
6	chr7:129293800-129311400	Weak transcription	Brain Angular Gyrus	brain
7	chr7:129297800-129349800	Weak transcription	Small Intestine	intestine
8	chr7:129298600-129309800	Weak transcription	Fetal Heart	heart
9	chr7:129299800-129311400	Weak transcription	Colon Smooth Muscle	Colon
10	chr7:129300000-129304600	Weak transcription	Hela-S3	cervix
11	chr7:129300000-129314000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr7:129300600-129311800	Weak transcription	Pancreas	Pancrea
13	chr7:129301000-129330200	Weak transcription	Gastric	stomach
14	chr7:129301200-129311200	Weak transcription	Right Ventricle	heart
15	chr7:129301200-129312600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr7:129301800-129311800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr7:129302000-129304600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr7:129302000-129304800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr7:129302000-129304800	Weak transcription	Ovary	ovary
20	chr7:129302000-129304800	Weak transcription	K562	blood
21	chr7:129302000-129305400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr7:129302000-129309600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr7:129302000-129310400	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr7:129302000-129310600	Weak transcription	Primary hematopoietic stem cells	blood
25	chr7:129302000-129311200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr7:129302000-129311200	Weak transcription	Brain Hippocampus Middle	brain
27	chr7:129302000-129311200	Weak transcription	Duodenum Mucosa	Duodenum
28	chr7:129302000-129311200	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr7:129302000-129311200	Weak transcription	Fetal Stomach	stomach
30	chr7:129302000-129311200	Weak transcription	Left Ventricle	heart
31	chr7:129302000-129311200	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr7:129302000-129311200	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr7:129302000-129311200	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr7:129302000-129311400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr7:129302000-129311400	Weak transcription	Brain Substantia Nigra	brain
36	chr7:129302000-129311600	Weak transcription	Brain Germinal Matrix	brain
37	chr7:129302000-129311800	Weak transcription	Spleen	Spleen
38	chr7:129302000-129312400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr7:129302000-129314200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:129302000-129314200	Weak transcription	Psoas Muscle	Psoas
41	chr7:129302000-129314200	Weak transcription	Rectal Smooth Muscle	rectum
42	chr7:129302000-129314400	Weak transcription	Aorta	Aorta
43	chr7:129302000-129314600	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr7:129302000-129314800	Weak transcription	Brain Cingulate Gyrus	brain
45	chr7:129302000-129315400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr7:129302000-129317000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr7:129302000-129331800	Weak transcription	Esophagus	oesophagus
48	chr7:129302200-129304600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr7:129302200-129304600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr7:129302200-129310000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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