Variant report

Variant	rs2605611
Chromosome Location	chr11:93229319-93229320
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:93215734..93218245-chr11:93228402..93230678,2	MCF-7	breast:
2	chr11:93227711..93230322-chr11:93232444..93234701,2	K562	blood:
3	chr11:93225464..93227548-chr11:93228029..93230930,2	MCF-7	breast:
4	chr11:93220240..93222111-chr11:93226701..93229455,2	K562	blood:

Variant related genes	Relation type
ENSG00000166002	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10466368	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11601056	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11604909	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1563445	0.91[ASW][hapmap];0.86[CEU][hapmap];0.87[LWK][hapmap];0.95[MEX][hapmap];0.87[TSI][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2243410	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2248020	0.86[CEU][hapmap];0.82[EUR][1000 genomes]
rs2248524	0.81[CEU][hapmap];0.80[EUR][1000 genomes]
rs2248531	0.80[EUR][1000 genomes]
rs2248655	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2446061	0.85[CEU][hapmap]
rs2605581	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs2605583	0.85[CEU][hapmap]
rs2605614	0.81[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2605615	0.86[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2605617	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2605620	0.80[EUR][1000 genomes]
rs2605622	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2605623	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2605626	0.91[ASW][hapmap];0.86[CEU][hapmap];0.82[GIH][hapmap];0.95[MEX][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2605627	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2605628	0.84[AMR][1000 genomes]
rs2605629	0.81[ASW][hapmap];0.81[CEU][hapmap];0.82[LWK][hapmap];0.91[MEX][hapmap];0.83[AMR][1000 genomes]
rs2608214	0.81[ASW][hapmap];0.95[GIH][hapmap]
rs2658766	0.86[CEU][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2658768	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2658769	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2658770	0.84[CEU][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2658777	0.85[CEU][hapmap]
rs2658778	0.91[ASW][hapmap];0.85[CEU][hapmap];0.95[GIH][hapmap]
rs2658779	0.91[ASW][hapmap];0.85[CEU][hapmap];0.95[GIH][hapmap]
rs2658781	0.91[ASW][hapmap];0.85[CEU][hapmap];0.95[GIH][hapmap]
rs2658791	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2925355	0.91[ASW][hapmap];0.95[GIH][hapmap]
rs7116173	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72972357	0.81[EUR][1000 genomes]
rs72972364	0.81[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
rs2605611	CCDC67	cis	Thyroid	GTEx

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93207000-93239000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr11:93209000-93231400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr11:93209000-93235200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr11:93209600-93229400	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr11:93210600-93231600	Weak transcription	A549	lung
6	chr11:93211000-93253400	Weak transcription	Primary T cells from cord blood	blood
7	chr11:93211600-93243800	Weak transcription	Fetal Thymus	thymus
8	chr11:93212200-93234800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr11:93214800-93234400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr11:93218600-93254400	Weak transcription	Hela-S3	cervix
11	chr11:93218800-93231800	Weak transcription	Ovary	ovary
12	chr11:93218800-93238200	Weak transcription	Esophagus	oesophagus
13	chr11:93218800-93245800	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr11:93220600-93230600	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr11:93220600-93230800	Weak transcription	Colon Smooth Muscle	Colon
16	chr11:93220600-93232000	Weak transcription	Left Ventricle	heart
17	chr11:93220800-93235400	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr11:93222000-93231600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr11:93222200-93232000	Weak transcription	Spleen	Spleen
20	chr11:93222400-93238000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr11:93222800-93231800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr11:93222800-93236000	Weak transcription	Fetal Muscle Trunk	muscle
23	chr11:93223000-93242800	Weak transcription	Adipose Nuclei	Adipose
24	chr11:93224800-93230600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr11:93224800-93230600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr11:93225400-93230400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr11:93225400-93242800	Weak transcription	GM12878-XiMat	blood
28	chr11:93225600-93230400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr11:93225600-93230600	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr11:93225600-93230800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr11:93225600-93231800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr11:93225600-93248800	Weak transcription	Fetal Muscle Leg	muscle
33	chr11:93225800-93229400	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr11:93225800-93232800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr11:93226000-93230400	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr11:93226000-93230600	Weak transcription	Stomach Smooth Muscle	stomach
37	chr11:93226000-93235000	Weak transcription	Small Intestine	intestine
38	chr11:93226400-93257400	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr11:93226600-93238000	Weak transcription	Fetal Lung	lung
40	chr11:93226800-93233600	Weak transcription	Stomach Mucosa	stomach
41	chr11:93227000-93231600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr11:93227000-93234600	Weak transcription	Gastric	stomach
43	chr11:93227000-93243800	Weak transcription	Lung	lung
44	chr11:93227200-93231600	Weak transcription	Aorta	Aorta
45	chr11:93227200-93257600	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr11:93227400-93239800	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr11:93227600-93232800	Strong transcription	Fetal Stomach	stomach
48	chr11:93227800-93231600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr11:93227800-93235000	Weak transcription	Pancreas	Pancrea
50	chr11:93228000-93230400	Weak transcription	HUES64 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links