Variant report

Variant	rs2126551
Chromosome Location	chr2:20270027-20270028
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:20268380..20271374-chr2:20576831..20579270,2	MCF-7	breast:
2	chr2:20214554..20219540-chr2:20268505..20271599,4	MCF-7	breast:
3	chr2:20269147..20275842-chr2:20291951..20298996,12	MCF-7	breast:
4	chr2:20225773..20228023-chr2:20269554..20271125,2	MCF-7	breast:
5	chr2:20268478..20271036-chr2:20289525..20291447,2	MCF-7	breast:
6	chr2:20249788..20257046-chr2:20268868..20274735,23	MCF-7	breast:
7	chr2:20221303..20222858-chr2:20269623..20271397,2	MCF-7	breast:
8	chr17:57916621..57918390-chr2:20269936..20271465,2	MCF-7	breast:
9	chr2:20268337..20271291-chr2:20423747..20426134,3	MCF-7	breast:
10	chr2:20269058..20271837-chr2:20423527..20425315,3	MCF-7	breast:
11	chr2:20269865..20272049-chr2:20300977..20303518,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000068697	Chromatin interaction
ENSG00000223734	Chromatin interaction
ENSG00000115884	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10179114	0.92[YRI][hapmap]
rs10184382	0.82[ASN][1000 genomes]
rs10186733	0.90[YRI][hapmap]
rs2126552	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60058643	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6711092	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2126551	SDC1	cis	parietal	SCAN

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20266600-20270600	Weak transcription	Fetal Heart	heart
2	chr2:20266600-20270800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr2:20266600-20271000	Weak transcription	Brain Substantia Nigra	brain
4	chr2:20266600-20271200	Weak transcription	Brain Angular Gyrus	brain
5	chr2:20266600-20271200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr2:20266600-20271200	Weak transcription	Esophagus	oesophagus
7	chr2:20266600-20271200	Weak transcription	Gastric	stomach
8	chr2:20266600-20271200	Weak transcription	Left Ventricle	heart
9	chr2:20266600-20271200	Weak transcription	Right Atrium	heart
10	chr2:20266600-20271200	Weak transcription	Right Ventricle	heart
11	chr2:20266600-20271200	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr2:20266600-20271200	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr2:20266600-20271200	Weak transcription	Stomach Mucosa	stomach
14	chr2:20266600-20272400	Weak transcription	Duodenum Mucosa	Duodenum
15	chr2:20266600-20273000	Weak transcription	Psoas Muscle	Psoas
16	chr2:20267200-20275000	Enhancers	Placenta	Placenta
17	chr2:20267400-20271200	Weak transcription	Colonic Mucosa	Colon
18	chr2:20267600-20271000	Weak transcription	HepG2	liver
19	chr2:20268400-20270600	Weak transcription	A549	lung
20	chr2:20268400-20270800	Weak transcription	Rectal Smooth Muscle	rectum
21	chr2:20268400-20271200	Weak transcription	Fetal Intestine Small	intestine
22	chr2:20268600-20270200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:20268600-20270200	Weak transcription	Ovary	ovary
24	chr2:20268600-20270200	Weak transcription	NHLF	lung
25	chr2:20268600-20270400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:20268600-20270400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr2:20268600-20270400	Weak transcription	Osteobl	bone
28	chr2:20268600-20270600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:20268600-20270800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:20268600-20270800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr2:20268600-20271000	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr2:20268600-20271000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr2:20268600-20271000	Weak transcription	Colon Smooth Muscle	Colon
34	chr2:20268600-20271000	Weak transcription	Fetal Lung	lung
35	chr2:20268600-20271000	Weak transcription	Stomach Smooth Muscle	stomach
36	chr2:20268600-20271000	Weak transcription	NH-A	brain
37	chr2:20268600-20271200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr2:20268600-20271200	Weak transcription	HSMM	muscle
39	chr2:20268600-20271200	Weak transcription	HSMMtube	muscle
40	chr2:20268600-20271400	Weak transcription	Fetal Kidney	kidney
41	chr2:20268800-20270200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr2:20268800-20270200	Weak transcription	Fetal Muscle Trunk	muscle
43	chr2:20268800-20270200	Weak transcription	Fetal Stomach	stomach
44	chr2:20268800-20271200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr2:20268800-20271600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr2:20269200-20271200	Weak transcription	K562	blood
47	chr2:20269800-20270400	Enhancers	NHEK	skin
48	chr2:20269800-20271000	Enhancers	NHDF-Ad	bronchial
49	chr2:20269800-20272600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr2:20270000-20271000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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