Variant report

Variant	rs11682547
Chromosome Location	chr2:48114774-48114775
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:48112256..48114861-chr2:48132079..48134035,2	MCF-7	breast:
2	chr2:48109295..48112069-chr2:48114485..48118644,4	K562	blood:
3	chr2:48111817..48115456-chr2:48131838..48134984,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000236549	Chromatin interaction
ENSG00000233230	Chromatin interaction
ENSG00000138081	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1800931	1.00[AFR][1000 genomes]
rs3136331	1.00[AFR][1000 genomes]
rs56320267	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998096	chr2:47939614-48131697	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1009769	chr2:47972642-48509765	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv535680	chr2:47972642-48509765	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv930955	chr2:48040218-48121218	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv530831	chr2:48059709-48632317	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv519831	chr2:48072855-48566031	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv523013	chr2:48073117-48146122	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv874000	chr2:48078838-48291582	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv1003766	chr2:48102244-48559654	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11682547	CCDC128	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48067000-48122000	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr2:48089800-48121000	Weak transcription	Aorta	Aorta
3	chr2:48095000-48118200	Weak transcription	NH-A	brain
4	chr2:48095200-48118400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr2:48095200-48127200	Weak transcription	Fetal Kidney	kidney
6	chr2:48095400-48118200	Weak transcription	HMEC	breast
7	chr2:48095400-48129600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:48096000-48123400	Weak transcription	Esophagus	oesophagus
9	chr2:48097800-48123400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr2:48098000-48118400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr2:48098000-48122400	Weak transcription	Fetal Brain Male	brain
12	chr2:48098200-48115200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr2:48098200-48115400	Weak transcription	HSMM	muscle
14	chr2:48098400-48117400	Weak transcription	Placenta	Placenta
15	chr2:48098400-48119600	Weak transcription	Liver	Liver
16	chr2:48098400-48125000	Weak transcription	HUVEC	blood vessel
17	chr2:48098600-48117600	Weak transcription	Left Ventricle	heart
18	chr2:48098600-48119200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr2:48098600-48121000	Weak transcription	Duodenum Mucosa	Duodenum
20	chr2:48098600-48129000	Weak transcription	Gastric	stomach
21	chr2:48098600-48129000	Weak transcription	Pancreas	Pancrea
22	chr2:48099000-48118200	Weak transcription	NHDF-Ad	bronchial
23	chr2:48099400-48115800	Weak transcription	Fetal Heart	heart
24	chr2:48099600-48118400	Weak transcription	Brain Hippocampus Middle	brain
25	chr2:48099800-48115200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr2:48100400-48115600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr2:48100600-48121000	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr2:48100600-48129200	Weak transcription	Stomach Smooth Muscle	stomach
29	chr2:48100800-48120600	Weak transcription	K562	blood
30	chr2:48101000-48115400	Weak transcription	HSMMtube	muscle
31	chr2:48101000-48118600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:48101000-48119600	Weak transcription	Adipose Nuclei	Adipose
33	chr2:48101200-48117200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr2:48101200-48119400	Weak transcription	Psoas Muscle	Psoas
35	chr2:48101200-48123600	Weak transcription	Fetal Muscle Trunk	muscle
36	chr2:48102400-48118400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:48103600-48115200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr2:48107400-48114800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr2:48107400-48115000	Weak transcription	Small Intestine	intestine
40	chr2:48108600-48115000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr2:48108600-48129800	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr2:48109600-48123400	Weak transcription	Hela-S3	cervix
43	chr2:48110200-48115200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr2:48110200-48118600	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr2:48110200-48119200	Weak transcription	Fetal Brain Female	brain
46	chr2:48110200-48120800	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr2:48110200-48125200	Weak transcription	Brain Germinal Matrix	brain
48	chr2:48110600-48115400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr2:48110600-48119200	Weak transcription	Right Ventricle	heart
50	chr2:48110600-48123400	Weak transcription	HepG2	liver

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