Variant report

Variant	rs2274489
Chromosome Location	chr10:97158713-97158714
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:97151153..97154334-chr10:97157587..97160682,3	K562	blood:
2	chr10:97152224..97154155-chr10:97158166..97160252,2	MCF-7	breast:

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11188298	1.00[CEU][hapmap];0.91[GIH][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11596586	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1536557	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs1536560	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3740511	0.84[CEU][hapmap]
rs4917686	0.84[CEU][hapmap]
rs4918913	0.84[CEU][hapmap]
rs7899506	0.83[CEU][hapmap]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2274489	AVPI1	cis	parietal	SCAN

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:97146800-97168400	Weak transcription	Small Intestine	intestine
2	chr10:97147200-97158800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
3	chr10:97150200-97163600	Weak transcription	Stomach Mucosa	stomach
4	chr10:97151000-97166200	Strong transcription	Liver	Liver
5	chr10:97151800-97168800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr10:97152000-97164200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr10:97152200-97159000	Genic enhancers	Skeletal Muscle Female	skeletal muscle
8	chr10:97152400-97160200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr10:97153200-97162000	Strong transcription	Fetal Muscle Leg	muscle
10	chr10:97153400-97159600	Weak transcription	Fetal Brain Male	brain
11	chr10:97154400-97190800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr10:97154600-97168000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr10:97154800-97159200	Strong transcription	Fetal Muscle Trunk	muscle
14	chr10:97155200-97159000	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr10:97155200-97159000	Strong transcription	Duodenum Smooth Muscle	Duodenum
16	chr10:97155200-97159000	Strong transcription	HSMMtube	muscle
17	chr10:97155200-97159200	Strong transcription	Pancreas	Pancrea
18	chr10:97155200-97160000	Strong transcription	Fetal Brain Female	brain
19	chr10:97155200-97160200	Strong transcription	Fetal Intestine Large	intestine
20	chr10:97155200-97161600	Strong transcription	Brain Hippocampus Middle	brain
21	chr10:97155200-97161800	Genic enhancers	Left Ventricle	heart
22	chr10:97155200-97162000	Strong transcription	HepG2	liver
23	chr10:97155400-97159000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr10:97155400-97159200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr10:97155400-97159200	Strong transcription	Brain Cingulate Gyrus	brain
26	chr10:97155400-97160200	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr10:97155400-97160200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr10:97155400-97161600	Strong transcription	Gastric	stomach
29	chr10:97155400-97168000	Strong transcription	Fetal Intestine Small	intestine
30	chr10:97155400-97170800	Enhancers	Right Atrium	heart
31	chr10:97155600-97158800	Strong transcription	Brain Germinal Matrix	brain
32	chr10:97155600-97159000	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr10:97155600-97159000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
34	chr10:97155600-97159000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr10:97155600-97159000	Strong transcription	Brain Angular Gyrus	brain
36	chr10:97155600-97159000	Strong transcription	Ovary	ovary
37	chr10:97155600-97159000	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr10:97155600-97159200	Strong transcription	Brain Inferior Temporal Lobe	brain
39	chr10:97155600-97159800	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr10:97155600-97161600	Weak transcription	HMEC	breast
41	chr10:97155600-97162000	Strong transcription	Placenta	Placenta
42	chr10:97155800-97159000	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr10:97156000-97159200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr10:97156000-97166200	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr10:97156400-97158800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr10:97156400-97158800	Strong transcription	Brain Substantia Nigra	brain
47	chr10:97156600-97158800	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr10:97156600-97159000	Strong transcription	H1 Cell Line	embryonic stem cell
49	chr10:97156600-97159000	Strong transcription	H9 Cell Line	embryonic stem cell
50	chr10:97156600-97162400	Genic enhancers	Colon Smooth Muscle	Colon

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