Variant report

Variant	rs11686769
Chromosome Location	chr2:48682513-48682514
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:48676938..48678484-chr2:48681452..48684358,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11674217	0.84[EUR][1000 genomes]
rs11676078	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11683202	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11692537	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs55707610	0.89[AFR][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
rs11686769	CCDC128	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48669000-48683400	Weak transcription	Right Ventricle	heart
2	chr2:48669200-48698200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:48669400-48685000	Weak transcription	Fetal Brain Female	brain
4	chr2:48669400-48693800	Weak transcription	Hela-S3	cervix
5	chr2:48669600-48694200	Weak transcription	Fetal Brain Male	brain
6	chr2:48671800-48692400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr2:48673000-48686800	Weak transcription	Pancreas	Pancrea
8	chr2:48673000-48697400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:48673200-48724000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:48674800-48687000	Weak transcription	Small Intestine	intestine
11	chr2:48675800-48687800	Weak transcription	Fetal Kidney	kidney
12	chr2:48676200-48683400	Weak transcription	NHEK	skin
13	chr2:48676200-48686600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr2:48676200-48692000	Weak transcription	Psoas Muscle	Psoas
15	chr2:48676600-48683200	Weak transcription	HMEC	breast
16	chr2:48676600-48683400	Weak transcription	NHDF-Ad	bronchial
17	chr2:48676800-48685000	Weak transcription	HSMM	muscle
18	chr2:48676800-48688000	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr2:48677400-48683000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr2:48677600-48683400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr2:48677600-48685200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr2:48677600-48686800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr2:48677800-48687200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr2:48677800-48699600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr2:48678000-48696400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:48678200-48683800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr2:48678200-48688000	Strong transcription	Primary B cells from peripheral blood	blood
28	chr2:48678200-48696400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:48678200-48698800	Strong transcription	Fetal Thymus	thymus
30	chr2:48678200-48700000	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr2:48678400-48688200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr2:48678400-48688600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr2:48678400-48695600	Strong transcription	Dnd41	blood
34	chr2:48678400-48699400	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr2:48678400-48699400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr2:48678800-48684600	Strong transcription	Fetal Muscle Leg	muscle
37	chr2:48678800-48695600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr2:48678800-48696200	Strong transcription	Duodenum Mucosa	Duodenum
39	chr2:48678800-48696400	Strong transcription	Fetal Muscle Trunk	muscle
40	chr2:48679000-48684400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr2:48679000-48688000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr2:48679000-48696400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr2:48679000-48696600	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr2:48679200-48686800	Weak transcription	Stomach Mucosa	stomach
45	chr2:48679200-48695800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr2:48679200-48696200	Strong transcription	Primary T cells from cord blood	blood
47	chr2:48679400-48687000	Weak transcription	HSMMtube	muscle
48	chr2:48679600-48683400	Weak transcription	NHLF	lung
49	chr2:48679600-48684400	Strong transcription	Left Ventricle	heart
50	chr2:48679600-48685000	Weak transcription	Brain Angular Gyrus	brain

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