Variant report

Variant	rs618510
Chromosome Location	chr12:51405409-51405410
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51397497..51399942-chr12:51404608..51407015,3	MCF-7	breast:
2	chr12:51404460..51409575-chr12:51416331..51420356,8	MCF-7	breast:
3	chr12:51397539..51404278-chr12:51405080..51409503,9	MCF-7	breast:
4	chr12:51403352..51405981-chr12:51411330..51414858,3	K562	blood:

Variant related genes	Relation type
ENSG00000110911	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10876126	0.87[EUR][1000 genomes]
rs11169679	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12423207	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs150909	0.85[EUR][1000 genomes]
rs161044	0.85[EUR][1000 genomes]
rs161045	0.88[EUR][1000 genomes]
rs161046	0.88[EUR][1000 genomes]
rs161047	0.88[EUR][1000 genomes]
rs2046498	0.83[AMR][1000 genomes]
rs224564	0.85[EUR][1000 genomes]
rs224566	0.85[EUR][1000 genomes]
rs224569	0.85[EUR][1000 genomes]
rs224570	0.85[EUR][1000 genomes]
rs224573	0.92[EUR][1000 genomes]
rs224574	0.92[EUR][1000 genomes]
rs224578	0.88[EUR][1000 genomes]
rs224585	0.86[EUR][1000 genomes]
rs224586	0.85[EUR][1000 genomes]
rs224590	0.88[EUR][1000 genomes]
rs224592	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs224593	0.88[EUR][1000 genomes]
rs2554859	0.83[AMR][1000 genomes]
rs2630362	0.85[EUR][1000 genomes]
rs364627	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs390424	0.88[EUR][1000 genomes]
rs394384	0.85[EUR][1000 genomes]
rs416062	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4238110	0.92[EUR][1000 genomes]
rs435965	0.92[EUR][1000 genomes]
rs445520	0.88[EUR][1000 genomes]
rs452587	0.92[EUR][1000 genomes]
rs4768875	0.92[EUR][1000 genomes]
rs613977	0.90[EUR][1000 genomes]
rs6580779	0.86[EUR][1000 genomes]
rs6580780	0.92[EUR][1000 genomes]
rs6580781	0.87[EUR][1000 genomes]
rs686528	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs706803	0.83[EUR][1000 genomes]
rs706804	0.83[EUR][1000 genomes]
rs7299484	0.92[EUR][1000 genomes]
rs7969536	0.87[EUR][1000 genomes]
rs7969702	0.89[EUR][1000 genomes]
rs7971712	0.85[EUR][1000 genomes]
rs829021	0.83[EUR][1000 genomes]
rs9739943	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3414501	chr12:51174503-51534707	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	esv34039	chr12:51326702-51671911	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs618510	SLC11A2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51386000-51406600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:51386000-51414200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr12:51388600-51406600	Weak transcription	Small Intestine	intestine
4	chr12:51390000-51405800	Weak transcription	Stomach Mucosa	stomach
5	chr12:51399000-51406200	Weak transcription	Colon Smooth Muscle	Colon
6	chr12:51399200-51418000	Weak transcription	Gastric	stomach
7	chr12:51399400-51408200	Weak transcription	NHDF-Ad	bronchial
8	chr12:51399600-51405800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr12:51399600-51405800	Weak transcription	Spleen	Spleen
10	chr12:51399800-51406800	Weak transcription	A549	lung
11	chr12:51399800-51414600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr12:51399800-51415600	Weak transcription	Right Ventricle	heart
13	chr12:51400000-51407200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:51400000-51407400	Weak transcription	HMEC	breast
15	chr12:51401000-51410800	Weak transcription	HepG2	liver
16	chr12:51401400-51417800	Weak transcription	Stomach Smooth Muscle	stomach
17	chr12:51401600-51410000	Weak transcription	Pancreas	Pancrea
18	chr12:51402000-51418000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:51402000-51418000	Weak transcription	Fetal Stomach	stomach
20	chr12:51402400-51405600	Weak transcription	NHEK	skin
21	chr12:51402400-51405800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr12:51402400-51406200	Weak transcription	Fetal Lung	lung
23	chr12:51402400-51406400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr12:51402400-51407200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr12:51402400-51407200	Weak transcription	Lung	lung
26	chr12:51402400-51408600	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr12:51402400-51415600	Weak transcription	GM12878-XiMat	blood
28	chr12:51402400-51417200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr12:51402400-51417600	Weak transcription	Left Ventricle	heart
30	chr12:51402400-51418000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:51402600-51405800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr12:51402600-51406400	Enhancers	Fetal Brain Male	brain
33	chr12:51402600-51406800	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr12:51403000-51405800	Weak transcription	Psoas Muscle	Psoas
35	chr12:51403000-51406600	Weak transcription	Fetal Muscle Leg	muscle
36	chr12:51403000-51406600	Weak transcription	Placenta	Placenta
37	chr12:51403000-51418000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr12:51403200-51405600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr12:51403200-51405800	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr12:51403200-51406200	Weak transcription	K562	blood
41	chr12:51403200-51407600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr12:51403400-51405600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr12:51403400-51405600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr12:51403400-51405600	Weak transcription	HSMMtube	muscle
45	chr12:51403400-51407600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr12:51403400-51415600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr12:51403400-51417600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr12:51403600-51405600	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr12:51403600-51405600	Weak transcription	Osteobl	bone
50	chr12:51403600-51405800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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