Variant report

Variant	rs7120763
Chromosome Location	chr11:73879747-73879748
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:73877006..73880114-chr11:73880554..73883460,3	MCF-7	breast:
2	chr11:73877253..73879970-chr11:73887172..73889134,2	K562	blood:
3	chr11:73870610..73873341-chr11:73878744..73880523,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000214517	Chromatin interaction
ENSG00000168014	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12416880	1.00[CEU][hapmap]
rs12417457	1.00[CEU][hapmap]
rs12417835	1.00[CEU][hapmap]
rs12418009	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12419308	0.87[EUR][1000 genomes]
rs12421228	1.00[CEU][hapmap]
rs12421595	1.00[CEU][hapmap]
rs17132911	1.00[CEU][hapmap]
rs7120554	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757451	chr11:73842609-74545888	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	esv2759837	chr11:73842609-74557597	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	esv34979	chr11:73878688-74533452	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7120763	PGM2L1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73802200-73880800	Weak transcription	Esophagus	oesophagus
2	chr11:73804000-73880800	Weak transcription	Aorta	Aorta
3	chr11:73817600-73880800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr11:73825000-73880400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr11:73844800-73880200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr11:73847800-73880800	Weak transcription	Spleen	Spleen
7	chr11:73854000-73881000	Weak transcription	Lung	lung
8	chr11:73858600-73880200	Weak transcription	NHLF	lung
9	chr11:73858600-73880800	Weak transcription	Ovary	ovary
10	chr11:73858600-73881000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr11:73859000-73880000	Weak transcription	HepG2	liver
12	chr11:73860000-73880600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr11:73866000-73880400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr11:73866200-73880600	Weak transcription	Small Intestine	intestine
15	chr11:73867800-73880800	Weak transcription	Gastric	stomach
16	chr11:73868000-73881000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr11:73869400-73879800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:73869400-73879800	Strong transcription	Primary T cells from cord blood	blood
19	chr11:73869600-73881000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr11:73871000-73879800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr11:73871600-73880800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr11:73872000-73880800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr11:73872200-73880200	Weak transcription	Colon Smooth Muscle	Colon
24	chr11:73872200-73880800	Weak transcription	Brain Cingulate Gyrus	brain
25	chr11:73872600-73880800	Weak transcription	Colonic Mucosa	Colon
26	chr11:73874200-73880800	Weak transcription	Pancreas	Pancrea
27	chr11:73874400-73880800	Weak transcription	Brain Substantia Nigra	brain
28	chr11:73874800-73879800	Strong transcription	HUVEC	blood vessel
29	chr11:73875800-73880400	Weak transcription	Fetal Brain Female	brain
30	chr11:73876000-73880800	Weak transcription	Stomach Smooth Muscle	stomach
31	chr11:73876200-73880600	Weak transcription	NHEK	skin
32	chr11:73876200-73880800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:73876200-73880800	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr11:73876600-73880600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr11:73877400-73880200	Weak transcription	Fetal Intestine Small	intestine
36	chr11:73877400-73880600	Weak transcription	Fetal Stomach	stomach
37	chr11:73877400-73880800	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr11:73877400-73880800	Weak transcription	Stomach Mucosa	stomach
39	chr11:73878000-73880600	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr11:73878200-73880400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr11:73878200-73880400	Weak transcription	Fetal Muscle Leg	muscle
42	chr11:73878200-73880600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr11:73878200-73880800	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr11:73878200-73880800	Weak transcription	Thymus	Thymus
45	chr11:73878400-73881000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr11:73879000-73880200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr11:73879000-73880800	Weak transcription	Fetal Intestine Large	intestine
48	chr11:73879200-73880200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr11:73879400-73879800	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr11:73879400-73879800	Weak transcription	Muscle Satellite Cultured Cells	--

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