Variant report

No.	Distal block	Cell Line	Cell type
1	chr2:173238964..173242268-chr2:173243569..173246875,3	K562	blood:
2	chr2:173240902..173243860-chr2:173291446..173293970,2	MCF-7	breast:
3	chr2:173237258..173239804-chr2:173240383..173243388,3	K562	blood:

Variant related genes	Relation type
ENSG00000091409	Chromatin interaction
ENSG00000226963	Chromatin interaction

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10207752	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10930552	0.95[EUR][1000 genomes]
rs10930553	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11677757	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11687888	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12477699	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13027402	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13028213	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4972814	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4972815	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4972817	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4972818	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4972819	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs13020542	CAV1	trans	cerebellum	SCAN
rs13020542	HAT1	cis	parietal	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173238400-173243800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:173238800-173242000	Enhancers	Stomach Mucosa	stomach
3	chr2:173239200-173260200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:173239800-173242000	Weak transcription	Adipose Nuclei	Adipose
5	chr2:173239800-173242200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr2:173239800-173245400	Weak transcription	Fetal Kidney	kidney
7	chr2:173240000-173242800	Enhancers	Liver	Liver
8	chr2:173240200-173242000	Weak transcription	Spleen	Spleen
9	chr2:173240200-173243600	Weak transcription	Fetal Intestine Small	intestine
10	chr2:173240400-173243400	Weak transcription	HepG2	liver
11	chr2:173240400-173245000	Weak transcription	HSMMtube	muscle
12	chr2:173240800-173242000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:173240800-173242000	Weak transcription	Psoas Muscle	Psoas
14	chr2:173240800-173242200	Weak transcription	Left Ventricle	heart
15	chr2:173240800-173243800	Weak transcription	Duodenum Mucosa	Duodenum
16	chr2:173240800-173244800	Weak transcription	Fetal Intestine Large	intestine
17	chr2:173241000-173245400	Weak transcription	Gastric	stomach
18	chr2:173241200-173242200	Weak transcription	Pancreas	Pancrea
19	chr2:173241200-173244800	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr2:173241400-173241800	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr2:173241400-173242400	Enhancers	HUVEC	blood vessel
22	chr2:173241600-173242800	Enhancers	Fetal Muscle Leg	muscle

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