Variant report

Variant	rs681041
Chromosome Location	chr11:85659381-85659382
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:85650684..85656124-chr11:85659031..85663462,6	K562	blood:
2	chr11:85658069..85660517-chr11:85950815..85953002,2	K562	blood:
3	chr11:85659346..85662146-chr11:85836762..85839271,2	K562	blood:
4	chr11:85658393..85662131-chr11:85674389..85678033,3	K562	blood:
5	chr11:85658393..85660866-chr11:85673008..85675889,3	K562	blood:
6	chr11:85658382..85661257-chr11:85664114..85666367,2	K562	blood:
7	chr11:85656909..85659832-chr11:85660162..85661872,3	K562	blood:
8	chr11:85657947..85659569-chr11:85955594..85957281,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000074266	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1214410	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1941375	1.00[ASW][hapmap];0.81[CEU][hapmap];0.92[CHB][hapmap];0.88[GIH][hapmap];0.88[JPT][hapmap];0.88[LWK][hapmap];0.82[MEX][hapmap];0.84[TSI][hapmap];0.86[YRI][hapmap]
rs2942821	0.85[ASN][1000 genomes]
rs3016329	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs490507	1.00[CEU][hapmap];0.92[CHB][hapmap];0.88[JPT][hapmap];0.86[YRI][hapmap];0.86[EUR][1000 genomes]
rs510566	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs545213	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs547807	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs554750	0.82[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs583463	0.89[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap];0.80[YRI][hapmap]
rs585480	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs588992	1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs598561	0.87[ASN][1000 genomes]
rs615887	0.92[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.86[MKK][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs621942	0.92[ASW][hapmap];0.95[CEU][hapmap];0.91[CHB][hapmap];0.92[CHD][hapmap];0.92[GIH][hapmap];0.94[JPT][hapmap];0.82[LWK][hapmap];0.82[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.84[EUR][1000 genomes]
rs622110	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.88[MEX][hapmap];0.96[MKK][hapmap];0.89[TSI][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs622876	0.86[EUR][1000 genomes]
rs636848	1.00[CEU][hapmap];0.92[CHB][hapmap];0.88[JPT][hapmap];0.81[YRI][hapmap];0.84[EUR][1000 genomes]
rs637193	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs638509	0.85[YRI][hapmap]
rs655726	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs664596	0.90[CHB][hapmap];0.87[JPT][hapmap]
rs664629	1.00[ASW][hapmap];0.86[LWK][hapmap];0.83[MKK][hapmap];0.93[YRI][hapmap]
rs669336	0.92[ASW][hapmap];0.92[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.86[MKK][hapmap];0.81[YRI][hapmap];0.92[ASN][1000 genomes]
rs682058	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051155	chr11:85006564-85721261	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv541110	chr11:85006564-85721261	Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv1035489	chr11:85502953-85778229	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1048818	chr11:85524635-85746473	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv541116	chr11:85524635-85746473	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv1053808	chr11:85588919-85757693	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv1053599	chr11:85641619-85684353	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
8	nsv1040567	chr11:85641619-85684935	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85646600-85660000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:85646600-85667400	Weak transcription	Gastric	stomach
3	chr11:85652800-85664400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr11:85652800-85668800	Weak transcription	Small Intestine	intestine
5	chr11:85656000-85661000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr11:85656000-85679800	Weak transcription	Fetal Brain Male	brain
7	chr11:85656200-85661000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr11:85656400-85660200	Enhancers	Adipose Nuclei	Adipose
9	chr11:85656400-85660200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr11:85656400-85660200	Enhancers	HUVEC	blood vessel
11	chr11:85656600-85659400	Enhancers	Right Atrium	heart
12	chr11:85656600-85662400	Enhancers	HepG2	liver
13	chr11:85656800-85659600	Enhancers	Brain Cingulate Gyrus	brain
14	chr11:85656800-85660200	Enhancers	Brain Hippocampus Middle	brain
15	chr11:85656800-85661400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr11:85657000-85659400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr11:85657000-85659600	Enhancers	Brain Angular Gyrus	brain
18	chr11:85657000-85660200	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr11:85657000-85660600	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr11:85657000-85661000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr11:85657200-85659400	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr11:85657200-85660000	Weak transcription	Placenta	Placenta
23	chr11:85657200-85665600	Weak transcription	Lung	lung
24	chr11:85657400-85659400	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr11:85657400-85660400	Enhancers	NHDF-Ad	bronchial
26	chr11:85657400-85660800	Enhancers	Osteobl	bone
27	chr11:85657600-85660400	Enhancers	NHEK	skin
28	chr11:85657600-85665600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:85657600-85666600	Weak transcription	Spleen	Spleen
30	chr11:85657800-85659800	Enhancers	Fetal Lung	lung
31	chr11:85657800-85660400	Enhancers	HMEC	breast
32	chr11:85657800-85661400	Enhancers	GM12878-XiMat	blood
33	chr11:85657800-85664200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr11:85658400-85659400	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr11:85658400-85659400	Enhancers	Stomach Mucosa	stomach
36	chr11:85658400-85659600	Enhancers	Colon Smooth Muscle	Colon
37	chr11:85658400-85659600	Enhancers	Rectal Smooth Muscle	rectum
38	chr11:85658400-85660200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr11:85658400-85660200	Enhancers	NHLF	lung
40	chr11:85658400-85660400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr11:85658400-85666600	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr11:85658400-85667400	Weak transcription	Pancreas	Pancrea
43	chr11:85658600-85659400	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr11:85658600-85659400	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr11:85658600-85659400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr11:85658600-85660200	Enhancers	Brain Substantia Nigra	brain
47	chr11:85658600-85660200	Enhancers	A549	lung
48	chr11:85658600-85660200	Enhancers	Hela-S3	cervix
49	chr11:85658600-85661000	Enhancers	Muscle Satellite Cultured Cells	--
50	chr11:85658600-85664400	Weak transcription	Primary B cells from cord blood	blood

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