Variant report

Variant	rs41489645
Chromosome Location	chr11:85665525-85665526
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:85661662..85663622-chr11:85665077..85667243,2	K562	blood:
2	chr11:85664911..85667444-chr11:85667862..85673209,4	K562	blood:
3	chr11:85659757..85662589-chr11:85664114..85665919,2	K562	blood:
4	chr11:85664784..85666650-chr11:85673268..85675684,2	K562	blood:
5	chr11:85664911..85667241-chr11:85670910..85673209,2	K562	blood:
6	chr11:85663607..85666587-chr11:86015226..86016933,2	K562	blood:
7	chr11:85658382..85661257-chr11:85664114..85666367,2	K562	blood:

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10501599	1.00[CHB][hapmap]
rs10501601	1.00[CHB][hapmap]
rs10501602	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11234465	1.00[CHB][hapmap]
rs11234467	1.00[CHB][hapmap]
rs11821654	1.00[CEU][hapmap];0.82[CHB][hapmap];0.84[EUR][1000 genomes]
rs12274739	1.00[CHB][hapmap]
rs12274987	0.93[CEU][hapmap];0.82[CHB][hapmap]
rs12283410	0.86[CEU][hapmap];0.82[CHB][hapmap]
rs12286312	1.00[CHB][hapmap]
rs12787412	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12787418	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12787556	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12787654	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12788654	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12788680	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12790526	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12790645	0.93[CEU][hapmap];0.82[CHB][hapmap];0.83[TSI][hapmap];0.83[EUR][1000 genomes]
rs12791520	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12794211	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12795381	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12795833	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12798065	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12798229	0.84[EUR][1000 genomes]
rs12798898	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12802064	0.84[EUR][1000 genomes]
rs12802399	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12804751	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12804833	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12805520	1.00[CEU][hapmap];0.82[CHB][hapmap];0.83[TSI][hapmap];0.84[EUR][1000 genomes]
rs1445508	1.00[CHB][hapmap]
rs17148574	1.00[CHB][hapmap]
rs17148585	1.00[CHB][hapmap]
rs17148704	0.86[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17209625	1.00[MKK][hapmap]
rs17745024	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17745409	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17817402	1.00[CHB][hapmap]
rs17817444	1.00[CHB][hapmap]
rs17817600	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17817648	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17817931	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17817992	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28365806	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3213934	0.93[CEU][hapmap];0.82[CHB][hapmap];0.83[TSI][hapmap];0.83[EUR][1000 genomes]
rs34003294	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34223518	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34332755	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34584483	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34609418	0.84[EUR][1000 genomes]
rs34631477	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34675784	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34700169	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34766621	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34874199	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34959028	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35206999	0.87[ASN][1000 genomes]
rs35220752	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35519080	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35585561	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35866111	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35992035	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55932210	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56094546	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56191920	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs66494408	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs66802900	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67282763	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67682051	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67719619	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7107303	0.82[CHB][hapmap]
rs7107455	0.86[CEU][hapmap];0.82[CHB][hapmap]
rs7118279	1.00[CEU][hapmap];0.82[CHB][hapmap];0.84[EUR][1000 genomes]
rs71465608	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71465611	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs725459	1.00[CHB][hapmap]
rs7926846	1.00[CHB][hapmap]
rs7934759	1.00[CHB][hapmap]

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:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85646600-85667400	Weak transcription	Gastric	stomach
2	chr11:85652800-85668800	Weak transcription	Small Intestine	intestine
3	chr11:85656000-85679800	Weak transcription	Fetal Brain Male	brain
4	chr11:85657200-85665600	Weak transcription	Lung	lung
5	chr11:85657600-85665600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:85657600-85666600	Weak transcription	Spleen	Spleen
7	chr11:85658400-85666600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr11:85658400-85667400	Weak transcription	Pancreas	Pancrea
9	chr11:85658600-85667400	Weak transcription	Esophagus	oesophagus
10	chr11:85658600-85673000	Weak transcription	Right Ventricle	heart
11	chr11:85659400-85666400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr11:85659400-85745800	Weak transcription	Stomach Mucosa	stomach
13	chr11:85659600-85666200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr11:85659600-85666400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr11:85659800-85666800	Weak transcription	Fetal Lung	lung
16	chr11:85660000-85666400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr11:85660200-85666200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr11:85660200-85666400	Weak transcription	Brain Cingulate Gyrus	brain
19	chr11:85660200-85666400	Weak transcription	Brain Hippocampus Middle	brain
20	chr11:85660200-85666400	Weak transcription	A549	lung
21	chr11:85660200-85666400	Weak transcription	Hela-S3	cervix
22	chr11:85660200-85666600	Weak transcription	HUVEC	blood vessel
23	chr11:85660200-85670800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr11:85660400-85666400	Weak transcription	HMEC	breast
25	chr11:85660400-85666600	Weak transcription	NHEK	skin
26	chr11:85660400-85667400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr11:85662400-85666200	Weak transcription	HepG2	liver
28	chr11:85662600-85666000	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr11:85663000-85666400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr11:85663400-85692000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr11:85663600-85666000	Weak transcription	Fetal Heart	heart
32	chr11:85663600-85666800	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr11:85663800-85666400	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr11:85663800-85666400	Weak transcription	K562	blood
35	chr11:85663800-85740200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr11:85664200-85665800	ZNF genes & repeats	GM12878-XiMat	blood
37	chr11:85664200-85666000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
38	chr11:85664200-85666000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr11:85664200-85666400	Strong transcription	Brain Anterior Caudate	brain
40	chr11:85664200-85666800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr11:85664200-85668200	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr11:85664200-85673000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr11:85664400-85665600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr11:85664400-85665600	Genic enhancers	Duodenum Smooth Muscle	Duodenum
45	chr11:85664400-85665600	Genic enhancers	HSMMtube	muscle
46	chr11:85664400-85665800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr11:85664400-85665800	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr11:85664400-85665800	Weak transcription	Fetal Muscle Trunk	muscle
49	chr11:85664400-85665800	Strong transcription	Stomach Smooth Muscle	stomach
50	chr11:85664400-85666000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood

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