Variant report

Variant	rs7355716
Chromosome Location	chr2:55133564-55133565
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:55130649..55133566-chr2:55214516..55217293,2	K562	blood:
2	chr2:55131871..55133906-chr2:55272256..55273757,2	MCF-7	breast:
3	chr2:55131952..55133594-chr2:55135173..55137176,2	MCF-7	breast:
4	chr2:55130679..55134331-chr2:55179003..55183555,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115310	Chromatin interaction
ENSG00000214595	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10171653	0.83[ASN][1000 genomes]
rs10201734	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12467381	0.81[ASN][1000 genomes]
rs13031431	0.84[CHB][hapmap]
rs17046579	0.84[CHB][hapmap]
rs17046586	0.84[CHB][hapmap]
rs17046589	0.84[CHB][hapmap]
rs2255026	0.84[CHB][hapmap]
rs2304686	0.84[CHB][hapmap]
rs2580768	0.84[CHB][hapmap]
rs2580769	0.84[CHB][hapmap]
rs2580770	0.84[CHB][hapmap]
rs2580771	0.84[CHB][hapmap]
rs2588513	0.84[CHB][hapmap]
rs2588515	0.84[CHB][hapmap]
rs2588516	0.84[CHB][hapmap]
rs2588522	0.84[CHB][hapmap]
rs2919126	0.88[CHB][hapmap]
rs2920859	0.84[CHB][hapmap]
rs2920892	0.84[CHB][hapmap]
rs2968788	0.84[CHB][hapmap]
rs2972092	0.84[CHB][hapmap]
rs3816191	0.84[CHB][hapmap]
rs4671988	0.82[ASN][1000 genomes]
rs4672003	0.84[CHB][hapmap]
rs6545456	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6545464	0.84[CHB][hapmap]
rs6545465	0.85[CHB][hapmap]
rs6734314	0.84[CHB][hapmap]

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	nsv834069	chr2:55096597-55251680	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7355716	ERLEC1	cis	parietal	SCAN

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55095200-55148200	Weak transcription	Primary B cells from peripheral blood	blood
2	chr2:55127800-55133600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr2:55128000-55133800	Weak transcription	Brain Anterior Caudate	brain
4	chr2:55129200-55133600	Weak transcription	Brain Hippocampus Middle	brain
5	chr2:55130200-55133800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:55130400-55133800	Enhancers	Fetal Intestine Large	intestine
7	chr2:55130800-55133600	Enhancers	Fetal Intestine Small	intestine
8	chr2:55131000-55134200	Enhancers	Fetal Muscle Leg	muscle
9	chr2:55131600-55134000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:55131800-55133800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:55131800-55134200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:55132000-55133600	Enhancers	HSMM	muscle
13	chr2:55132000-55134200	Enhancers	NHDF-Ad	bronchial
14	chr2:55132000-55136600	Enhancers	Liver	Liver
15	chr2:55132000-55140600	Weak transcription	Esophagus	oesophagus
16	chr2:55132200-55135600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:55132200-55135800	Weak transcription	NH-A	brain
18	chr2:55132400-55133600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:55132400-55133600	Enhancers	NHEK	skin
20	chr2:55132400-55133800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:55132400-55134000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:55132400-55134200	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr2:55132400-55134200	Enhancers	HMEC	breast
24	chr2:55132400-55134600	Enhancers	Fetal Brain Male	brain
25	chr2:55132400-55134600	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr2:55132400-55135600	Weak transcription	Osteobl	bone
27	chr2:55132400-55135800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:55132400-55135800	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr2:55132600-55135600	Weak transcription	HepG2	liver
30	chr2:55133000-55135600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr2:55133200-55135600	Weak transcription	NHLF	lung
32	chr2:55133400-55134000	Enhancers	Brain Angular Gyrus	brain
33	chr2:55133400-55134000	Enhancers	Brain Substantia Nigra	brain
34	chr2:55133400-55134200	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr2:55133400-55134200	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr2:55133400-55134200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr2:55133400-55134200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr2:55133400-55134200	Enhancers	Fetal Brain Female	brain
39	chr2:55133400-55134200	Enhancers	Fetal Muscle Trunk	muscle
40	chr2:55133400-55134200	Enhancers	Psoas Muscle	Psoas
41	chr2:55133400-55134200	Enhancers	HSMMtube	muscle
42	chr2:55133400-55134400	Enhancers	Fetal Heart	heart
43	chr2:55133400-55134600	Enhancers	Fetal Thymus	thymus
44	chr2:55133400-55134600	Enhancers	Thymus	Thymus

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