Variant report

Variant	rs62134672
Chromosome Location	chr2:54775052-54775053
allele	A/G
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:

Variant related genes	Relation type
ENSG00000228108	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12623169	0.81[EUR][1000 genomes]
rs6704698	0.93[EUR][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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs62134672	SPTBN1	Cis_1M	lymphoblastoid	RTeQTL
rs62134672	EML6	cis	Artery Tibial	GTEx

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54744000-54777600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:54748400-54776800	Weak transcription	Pancreas	Pancrea
3	chr2:54752200-54777800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr2:54757000-54776800	Weak transcription	Brain Germinal Matrix	brain
5	chr2:54758200-54778200	Weak transcription	Placenta	Placenta
6	chr2:54762000-54775400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:54763000-54776000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr2:54764000-54776800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:54768200-54783800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:54768400-54775800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr2:54769800-54775400	Weak transcription	Fetal Muscle Leg	muscle
12	chr2:54769800-54775600	Weak transcription	Fetal Stomach	stomach
13	chr2:54769800-54777000	Weak transcription	Psoas Muscle	Psoas
14	chr2:54770000-54777400	Weak transcription	GM12878-XiMat	blood
15	chr2:54770400-54775400	Weak transcription	Lung	lung
16	chr2:54770400-54776800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr2:54770400-54782000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr2:54770600-54775400	Weak transcription	Right Atrium	heart
19	chr2:54770600-54776800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr2:54770600-54780200	Enhancers	Fetal Intestine Large	intestine
21	chr2:54771600-54783400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr2:54772600-54778800	Enhancers	Brain Anterior Caudate	brain
23	chr2:54772600-54780200	Enhancers	Fetal Intestine Small	intestine
24	chr2:54773000-54775400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr2:54773200-54775400	Weak transcription	Gastric	stomach
26	chr2:54773200-54775400	Weak transcription	Left Ventricle	heart
27	chr2:54773200-54777200	Weak transcription	NHLF	lung
28	chr2:54773400-54775400	Weak transcription	HSMM	muscle
29	chr2:54773400-54776000	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr2:54773400-54776800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr2:54773400-54784000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:54773400-54784000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:54773600-54775400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:54773800-54775400	Weak transcription	Small Intestine	intestine
35	chr2:54773800-54775400	Enhancers	HepG2	liver
36	chr2:54773800-54775600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr2:54773800-54776000	Weak transcription	NHEK	skin
38	chr2:54773800-54776800	Weak transcription	Colon Smooth Muscle	Colon
39	chr2:54773800-54777000	Weak transcription	Aorta	Aorta
40	chr2:54773800-54782200	Weak transcription	Ovary	ovary
41	chr2:54774000-54775400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr2:54774000-54775400	Weak transcription	Fetal Heart	heart
43	chr2:54774000-54775400	Weak transcription	Right Ventricle	heart
44	chr2:54774000-54775400	Weak transcription	Stomach Mucosa	stomach
45	chr2:54774000-54775600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr2:54774000-54775600	Weak transcription	Colonic Mucosa	Colon
47	chr2:54774000-54776000	Enhancers	A549	lung
48	chr2:54774000-54776800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr2:54774000-54776800	Weak transcription	Adipose Nuclei	Adipose
50	chr2:54774000-54776800	Enhancers	Rectal Mucosa Donor 31	rectum

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