Variant report

Variant	rs11674217
Chromosome Location	chr2:48674491-48674492
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:48668357..48671385-chr2:48673634..48677025,4	K562	blood:
2	chr2:48673221..48675776-chr2:48684217..48685788,2	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10182093	0.92[EUR][1000 genomes]
rs10191938	0.92[EUR][1000 genomes]
rs10195717	0.89[CEU][hapmap];0.93[EUR][1000 genomes]
rs10197359	0.93[EUR][1000 genomes]
rs11676078	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11677205	0.88[CEU][hapmap]
rs11677234	0.91[YRI][hapmap]
rs11678825	0.83[EUR][1000 genomes]
rs11678934	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs11679685	0.91[EUR][1000 genomes]
rs11681187	0.89[AFR][1000 genomes]
rs11682838	0.82[EUR][1000 genomes]
rs11683202	0.88[CEU][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11686769	0.84[EUR][1000 genomes]
rs11687461	0.90[CEU][hapmap]
rs11687771	1.00[CEU][hapmap]
rs11689285	1.00[CEU][hapmap]
rs11690526	1.00[CEU][hapmap]
rs11691302	0.83[EUR][1000 genomes]
rs11691407	0.83[EUR][1000 genomes]
rs11692537	1.00[CEU][hapmap];0.91[YRI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11694094	0.83[EUR][1000 genomes]
rs11694955	0.90[EUR][1000 genomes]
rs13398456	0.90[CEU][hapmap];0.93[EUR][1000 genomes]
rs17397449	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs28505584	0.83[EUR][1000 genomes]
rs2937	1.00[CEU][hapmap]
rs4364065	0.91[EUR][1000 genomes]
rs72889641	0.93[EUR][1000 genomes]
rs7573281	0.83[EUR][1000 genomes]
rs7584796	0.83[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
rs11674217	CCDC128	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:119 , 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	chr2:48668800-48675200	Weak transcription	HSMM	muscle
3	chr2:48668800-48675800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr2:48668800-48675800	Weak transcription	Psoas Muscle	Psoas
5	chr2:48668800-48678800	Weak transcription	Fetal Muscle Trunk	muscle
6	chr2:48668800-48679600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr2:48668800-48682400	Weak transcription	Lung	lung
8	chr2:48669000-48675200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr2:48669000-48678400	Weak transcription	Colonic Mucosa	Colon
10	chr2:48669000-48678800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr2:48669000-48679000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:48669000-48680000	Weak transcription	Fetal Stomach	stomach
13	chr2:48669000-48681800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:48669000-48683400	Weak transcription	Right Ventricle	heart
15	chr2:48669200-48675600	Weak transcription	Adipose Nuclei	Adipose
16	chr2:48669200-48678400	Weak transcription	HUVEC	blood vessel
17	chr2:48669200-48698200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr2:48669400-48674600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:48669400-48674800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr2:48669400-48675200	Enhancers	Primary T cells from cord blood	blood
21	chr2:48669400-48675200	Weak transcription	A549	lung
22	chr2:48669400-48675200	Weak transcription	HSMMtube	muscle
23	chr2:48669400-48675400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:48669400-48675400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr2:48669400-48675400	Weak transcription	NH-A	brain
26	chr2:48669400-48675800	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr2:48669400-48685000	Weak transcription	Fetal Brain Female	brain
28	chr2:48669400-48693800	Weak transcription	Hela-S3	cervix
29	chr2:48669600-48674800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr2:48669600-48675000	Weak transcription	Primary hematopoietic stem cells	blood
31	chr2:48669600-48675800	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr2:48669600-48675800	Weak transcription	Stomach Mucosa	stomach
33	chr2:48669600-48694200	Weak transcription	Fetal Brain Male	brain
34	chr2:48669800-48675400	Weak transcription	Stomach Smooth Muscle	stomach
35	chr2:48670000-48674600	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr2:48670000-48675400	Weak transcription	Duodenum Mucosa	Duodenum
37	chr2:48670000-48679000	Weak transcription	Brain Germinal Matrix	brain
38	chr2:48670400-48678200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:48670400-48678800	Weak transcription	Fetal Muscle Leg	muscle
40	chr2:48670400-48678800	Weak transcription	Ovary	ovary
41	chr2:48670600-48675600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
42	chr2:48670800-48681800	Weak transcription	Gastric	stomach
43	chr2:48670800-48681800	Weak transcription	Spleen	Spleen
44	chr2:48671200-48675000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr2:48671400-48678200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr2:48671600-48681800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr2:48671800-48675800	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr2:48671800-48677200	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr2:48671800-48678600	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr2:48671800-48692400	Weak transcription	H9 Cell Line	embryonic stem cell

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