Variant report

Variant	rs2658768
Chromosome Location	chr11:93250827-93250828
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	chr11:93246116..93247653-chr11:93249759..93251907,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10466368	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11601056	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11604909	0.83[EUR][1000 genomes]
rs1563445	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2243410	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2248020	0.97[EUR][1000 genomes]
rs2248524	0.94[EUR][1000 genomes]
rs2248531	0.94[EUR][1000 genomes]
rs2248655	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2605611	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2605614	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2605615	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2605617	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2605620	0.94[EUR][1000 genomes]
rs2605622	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2605623	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2605626	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2605627	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2605628	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2605629	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2658766	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2658769	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2658770	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7116173	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898181	chr11:93072843-93662459	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv1039623	chr11:93141461-93328739	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	esv2760208	chr11:93172673-93266594	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2658768	CCDC67	cis	Thyroid	GTEx

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93211000-93253400	Weak transcription	Primary T cells from cord blood	blood
2	chr11:93218600-93254400	Weak transcription	Hela-S3	cervix
3	chr11:93226400-93257400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr11:93227200-93257600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr11:93233000-93257400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr11:93235400-93257800	Weak transcription	Gastric	stomach
7	chr11:93235600-93258800	Weak transcription	Small Intestine	intestine
8	chr11:93235800-93252600	Weak transcription	Duodenum Mucosa	Duodenum
9	chr11:93238400-93259000	Weak transcription	Fetal Lung	lung
10	chr11:93239600-93255600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr11:93241000-93252400	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr11:93241000-93254200	Weak transcription	HepG2	liver
13	chr11:93241800-93257400	Weak transcription	Fetal Intestine Large	intestine
14	chr11:93243200-93252200	Weak transcription	Dnd41	blood
15	chr11:93243800-93255600	Weak transcription	Fetal Intestine Small	intestine
16	chr11:93244000-93254400	Weak transcription	Pancreas	Pancrea
17	chr11:93244200-93253800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr11:93244800-93254000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr11:93248000-93261800	Weak transcription	Fetal Stomach	stomach
20	chr11:93248800-93251000	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr11:93248800-93257400	Weak transcription	Adipose Nuclei	Adipose
22	chr11:93249000-93252400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr11:93249000-93252600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr11:93249000-93261600	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr11:93249200-93251800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr11:93249200-93252200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:93249200-93252200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr11:93249200-93253600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr11:93249200-93253600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr11:93249200-93254400	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr11:93249200-93254400	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr11:93249200-93255400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr11:93249200-93255600	Weak transcription	Left Ventricle	heart
34	chr11:93249200-93255600	Weak transcription	Right Ventricle	heart
35	chr11:93249200-93257600	Weak transcription	Fetal Muscle Leg	muscle
36	chr11:93249200-93257600	Weak transcription	Placenta	Placenta
37	chr11:93249200-93257800	Weak transcription	Right Atrium	heart
38	chr11:93249400-93254200	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr11:93249600-93253400	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr11:93250200-93251000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr11:93250200-93251000	Strong transcription	Aorta	Aorta
42	chr11:93250200-93254000	Enhancers	GM12878-XiMat	blood
43	chr11:93250400-93251000	Enhancers	Fetal Thymus	thymus
44	chr11:93250400-93251200	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr11:93250600-93251000	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr11:93250600-93251400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr11:93250600-93253000	Enhancers	NHEK	skin
48	chr11:93250600-93254000	Weak transcription	Primary B cells from peripheral blood	blood
49	chr11:93250600-93255400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr11:93250800-93251000	Enhancers	Fetal Brain Male	brain

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