Variant report

Variant	rs11681187
Chromosome Location	chr2:48674032-48674033
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:48671387..48674060-chr2:48675787..48677578,2	K562	blood:
2	chr2:48668357..48671385-chr2:48673634..48677025,4	K562	blood:
3	chr2:48673221..48675776-chr2:48684217..48685788,2	MCF-7	breast:
4	chr2:48671546..48674285-chr2:48724778..48726392,2	MCF-7	breast:

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11674217	0.89[AFR][1000 genomes]
rs11692537	0.87[AFR][1000 genomes]
rs55707610	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55952008	0.83[EUR][1000 genomes]
rs56088423	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56226059	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[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	esv2762252	chr2:48554150-48741093	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv581775	chr2:48619869-48714938	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11681187	CCDC128	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48668600-48682000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:48668800-48674200	Weak transcription	Small Intestine	intestine
3	chr2:48668800-48675200	Weak transcription	HSMM	muscle
4	chr2:48668800-48675800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr2:48668800-48675800	Weak transcription	Psoas Muscle	Psoas
6	chr2:48668800-48678800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr2:48668800-48679600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr2:48668800-48682400	Weak transcription	Lung	lung
9	chr2:48669000-48675200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr2:48669000-48678400	Weak transcription	Colonic Mucosa	Colon
11	chr2:48669000-48678800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr2:48669000-48679000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:48669000-48680000	Weak transcription	Fetal Stomach	stomach
14	chr2:48669000-48681800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:48669000-48683400	Weak transcription	Right Ventricle	heart
16	chr2:48669200-48674400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr2:48669200-48675600	Weak transcription	Adipose Nuclei	Adipose
18	chr2:48669200-48678400	Weak transcription	HUVEC	blood vessel
19	chr2:48669200-48698200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr2:48669400-48674200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:48669400-48674200	Weak transcription	Fetal Thymus	thymus
22	chr2:48669400-48674400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:48669400-48674400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:48669400-48674600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr2:48669400-48674800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr2:48669400-48675200	Enhancers	Primary T cells from cord blood	blood
27	chr2:48669400-48675200	Weak transcription	A549	lung
28	chr2:48669400-48675200	Weak transcription	HSMMtube	muscle
29	chr2:48669400-48675400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr2:48669400-48675400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr2:48669400-48675400	Weak transcription	NH-A	brain
32	chr2:48669400-48675800	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr2:48669400-48685000	Weak transcription	Fetal Brain Female	brain
34	chr2:48669400-48693800	Weak transcription	Hela-S3	cervix
35	chr2:48669600-48674800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr2:48669600-48675000	Weak transcription	Primary hematopoietic stem cells	blood
37	chr2:48669600-48675800	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr2:48669600-48675800	Weak transcription	Stomach Mucosa	stomach
39	chr2:48669600-48694200	Weak transcription	Fetal Brain Male	brain
40	chr2:48669800-48674200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr2:48669800-48674200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr2:48669800-48675400	Weak transcription	Stomach Smooth Muscle	stomach
43	chr2:48670000-48674600	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr2:48670000-48675400	Weak transcription	Duodenum Mucosa	Duodenum
45	chr2:48670000-48679000	Weak transcription	Brain Germinal Matrix	brain
46	chr2:48670400-48674400	Weak transcription	Thymus	Thymus
47	chr2:48670400-48678200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:48670400-48678800	Weak transcription	Fetal Muscle Leg	muscle
49	chr2:48670400-48678800	Weak transcription	Ovary	ovary
50	chr2:48670600-48675600	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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