Variant report

Variant	rs2658770
Chromosome Location	chr11:93261886-93261887
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:93256846..93259343-chr11:93261721..93264520,2	K562	blood:
2	chr11:93260994..93262500-chr11:93275483..93277703,2	K562	blood:

Variant related genes	Relation type
ENSG00000166002	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10466368	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11601056	0.83[EUR][1000 genomes]
rs11604909	0.84[CEU][hapmap];0.83[EUR][1000 genomes]
rs1563445	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2243410	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2248020	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs2248524	0.93[CEU][hapmap];0.94[EUR][1000 genomes]
rs2248531	0.94[EUR][1000 genomes]
rs2248655	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2263368	1.00[CHB][hapmap]
rs2605611	0.84[CEU][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2605614	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2605615	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2605617	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2605620	0.94[EUR][1000 genomes]
rs2605622	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2605623	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2605626	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2605627	1.00[CEU][hapmap];0.88[CHB][hapmap];0.91[JPT][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2605628	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2605629	0.92[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2658766	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2658768	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2658769	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7116173	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
rs2658770	CCDC67	cis	Thyroid	GTEx

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93252000-93266800	Enhancers	Fetal Thymus	thymus
2	chr11:93253800-93266200	Weak transcription	Fetal Brain Female	brain
3	chr11:93255000-93263600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr11:93255000-93274600	Weak transcription	Hela-S3	cervix
5	chr11:93255600-93262200	Weak transcription	Brain Germinal Matrix	brain
6	chr11:93255800-93262000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr11:93255800-93263000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr11:93256000-93262200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr11:93256200-93263800	Enhancers	Primary B cells from peripheral blood	blood
10	chr11:93256200-93266000	Enhancers	Primary T cells fromperipheralblood	blood
11	chr11:93256400-93266600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr11:93257200-93264800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr11:93257400-93264000	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr11:93257400-93264800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr11:93257400-93266600	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr11:93257600-93263000	Enhancers	HepG2	liver
17	chr11:93257600-93264000	Enhancers	Right Ventricle	heart
18	chr11:93257600-93264400	Enhancers	Fetal Muscle Leg	muscle
19	chr11:93257800-93264200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr11:93257800-93264200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr11:93258000-93262400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr11:93258000-93264600	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr11:93258200-93262000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr11:93258200-93266400	Enhancers	Primary T cells from cord blood	blood
25	chr11:93258400-93262000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr11:93258400-93262400	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr11:93258400-93274800	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr11:93258600-93262000	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr11:93258600-93262000	Weak transcription	Colon Smooth Muscle	Colon
30	chr11:93258600-93262800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr11:93259000-93262200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr11:93259200-93262200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr11:93259400-93262000	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr11:93259400-93262200	Weak transcription	NH-A	brain
35	chr11:93259400-93263200	Weak transcription	NHDF-Ad	bronchial
36	chr11:93259600-93262400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr11:93259800-93262200	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr11:93259800-93264000	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr11:93260000-93263000	Weak transcription	Fetal Kidney	kidney
40	chr11:93260200-93262600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr11:93260200-93262600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr11:93260200-93263600	Enhancers	Fetal Muscle Trunk	muscle
43	chr11:93260400-93262600	Weak transcription	Colonic Mucosa	Colon
44	chr11:93260400-93263000	Enhancers	Liver	Liver
45	chr11:93260400-93263000	Weak transcription	Small Intestine	intestine
46	chr11:93260400-93263200	Weak transcription	K562	blood
47	chr11:93260400-93266600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr11:93260600-93262600	Weak transcription	Fetal Intestine Large	intestine
49	chr11:93260800-93262000	Weak transcription	Dnd41	blood
50	chr11:93261000-93262000	Weak transcription	Thymus	Thymus

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