Variant report

Variant	rs62134669
Chromosome Location	chr2:54768661-54768662
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	chr2:54767808..54771330-chr2:54771769..54776449,4	K562	blood:
2	chr2:54764431..54771229-chr2:54784220..54787609,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000234943	Chromatin interaction
ENSG00000115306	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs55903525	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60113783	0.81[AMR][1000 genomes]
rs62134670	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62134673	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62134676	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62134679	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs62134680	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs62134681	0.81[AMR][1000 genomes]
rs62134684	0.81[ASN][1000 genomes]
rs62134700	0.81[ASN][1000 genomes]
rs62134701	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6545412	0.82[EUR][1000 genomes]
rs6724374	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998277	chr2:54710337-54849648	Genic enhancers Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv2731	chr2:54745069-54790057	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv528848	chr2:54758305-54777576	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54740400-54770200	Weak transcription	Esophagus	oesophagus
2	chr2:54744000-54777600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:54744400-54769600	Weak transcription	Spleen	Spleen
4	chr2:54747200-54769800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:54748400-54776800	Weak transcription	Pancreas	Pancrea
6	chr2:54750800-54769800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr2:54752200-54777800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:54757000-54776800	Weak transcription	Brain Germinal Matrix	brain
9	chr2:54757400-54771000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr2:54758200-54778200	Weak transcription	Placenta	Placenta
11	chr2:54758600-54772600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:54760200-54768800	Genic enhancers	Left Ventricle	heart
13	chr2:54760400-54769600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr2:54761000-54769400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:54761200-54768800	Strong transcription	HSMM	muscle
16	chr2:54761600-54773200	Weak transcription	Fetal Brain Male	brain
17	chr2:54761800-54769600	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr2:54762000-54775400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:54762200-54770400	Weak transcription	Fetal Kidney	kidney
20	chr2:54762200-54772800	Weak transcription	Aorta	Aorta
21	chr2:54762200-54772800	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr2:54762200-54773800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:54762400-54770800	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr2:54762400-54772600	Weak transcription	Liver	Liver
25	chr2:54762800-54772600	Weak transcription	NHDF-Ad	bronchial
26	chr2:54763000-54776000	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr2:54763200-54770800	Weak transcription	Fetal Intestine Small	intestine
28	chr2:54763200-54772600	Weak transcription	NHLF	lung
29	chr2:54764000-54776800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr2:54764400-54768800	Strong transcription	HSMMtube	muscle
31	chr2:54764400-54772600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr2:54764600-54769400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:54764600-54772600	Weak transcription	Osteobl	bone
34	chr2:54764800-54769400	Weak transcription	Fetal Stomach	stomach
35	chr2:54764800-54769400	Weak transcription	Psoas Muscle	Psoas
36	chr2:54765600-54774000	Weak transcription	Fetal Brain Female	brain
37	chr2:54766000-54769600	Weak transcription	Colon Smooth Muscle	Colon
38	chr2:54766200-54772800	Weak transcription	Small Intestine	intestine
39	chr2:54766600-54771000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr2:54767000-54770200	Enhancers	Fetal Heart	heart
41	chr2:54767200-54769400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr2:54767200-54770000	Weak transcription	Lung	lung
43	chr2:54767200-54771200	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr2:54767200-54771600	Enhancers	Brain Angular Gyrus	brain
45	chr2:54767200-54771600	Enhancers	Brain Hippocampus Middle	brain
46	chr2:54767400-54772600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr2:54767400-54772800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr2:54767600-54769800	Weak transcription	Stomach Smooth Muscle	stomach
49	chr2:54767600-54770000	Enhancers	Brain Cingulate Gyrus	brain
50	chr2:54767800-54772600	Weak transcription	HUVEC	blood vessel

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