Variant report

Variant	rs11234489
Chromosome Location	chr11:85664146-85664147
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:85663084..85664882-chr11:85955356..85956951,2	K562	blood:
2	chr11:85659757..85662589-chr11:85664114..85665919,2	K562	blood:
3	chr11:85663607..85666587-chr11:86015226..86016933,2	K562	blood:
4	chr11:85658382..85661257-chr11:85664114..85666367,2	K562	blood:

Variant related genes	Relation type
ENSG00000074266	Chromatin interaction

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10128700	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10501603	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10501605	0.90[EUR][1000 genomes]
rs10501607	0.90[EUR][1000 genomes]
rs10898431	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11234441	1.00[ASN][1000 genomes]
rs11234492	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11234496	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11234502	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11234512	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11234513	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11234517	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11234522	1.00[ASN][1000 genomes]
rs11825378	1.00[ASN][1000 genomes]
rs11825912	1.00[ASN][1000 genomes]
rs11828161	1.00[ASN][1000 genomes]
rs12270433	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12278260	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12279581	1.00[ASN][1000 genomes]
rs12279956	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12281494	0.80[EUR][1000 genomes]
rs12281958	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12282655	0.85[EUR][1000 genomes]
rs12287170	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1596739	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17148600	1.00[ASN][1000 genomes]
rs17744938	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17745105	0.93[EUR][1000 genomes]
rs17745153	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17745236	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17745248	0.88[EUR][1000 genomes]
rs17745273	0.88[EUR][1000 genomes]
rs17817582	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17817588	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17817690	0.96[EUR][1000 genomes]
rs17817859	0.95[EUR][1000 genomes]
rs17817883	0.90[EUR][1000 genomes]
rs17817919	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17817956	0.85[EUR][1000 genomes]
rs2001241	0.85[EUR][1000 genomes]
rs2084077	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs41381550	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4943934	0.95[EUR][1000 genomes]
rs4943937	0.80[EUR][1000 genomes]
rs4944550	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4944551	0.85[EUR][1000 genomes]
rs4944552	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4944553	0.93[EUR][1000 genomes]
rs4944554	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4944555	0.87[EUR][1000 genomes]
rs4944556	0.80[EUR][1000 genomes]
rs55697624	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55791429	0.85[EUR][1000 genomes]
rs55815523	0.88[EUR][1000 genomes]
rs56026701	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56187740	0.85[EUR][1000 genomes]
rs56944537	1.00[ASN][1000 genomes]
rs57125313	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58515881	1.00[ASN][1000 genomes]
rs58937798	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs59019168	1.00[ASN][1000 genomes]
rs59104711	1.00[ASN][1000 genomes]
rs60253048	1.00[ASN][1000 genomes]
rs60264644	1.00[ASN][1000 genomes]
rs60737637	1.00[ASN][1000 genomes]
rs61535933	1.00[ASN][1000 genomes]
rs72949419	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72949443	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72950443	0.85[EUR][1000 genomes]
rs72950453	0.85[EUR][1000 genomes]
rs72950456	0.85[EUR][1000 genomes]
rs72951266	0.96[EUR][1000 genomes]
rs72951268	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72959177	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72959197	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72959906	0.80[EUR][1000 genomes]
rs72961110	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72961111	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72963077	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72963086	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72963092	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72965157	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72965166	0.85[EUR][1000 genomes]
rs7943152	0.80[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:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85646600-85667400	Weak transcription	Gastric	stomach
2	chr11:85652800-85664400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr11:85652800-85668800	Weak transcription	Small Intestine	intestine
4	chr11:85656000-85679800	Weak transcription	Fetal Brain Male	brain
5	chr11:85657200-85665600	Weak transcription	Lung	lung
6	chr11:85657600-85665600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:85657600-85666600	Weak transcription	Spleen	Spleen
8	chr11:85657800-85664200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr11:85658400-85666600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr11:85658400-85667400	Weak transcription	Pancreas	Pancrea
11	chr11:85658600-85664400	Weak transcription	Primary B cells from cord blood	blood
12	chr11:85658600-85664400	Weak transcription	Liver	Liver
13	chr11:85658600-85664600	Weak transcription	Fetal Thymus	thymus
14	chr11:85658600-85665400	Weak transcription	Aorta	Aorta
15	chr11:85658600-85665400	Weak transcription	Left Ventricle	heart
16	chr11:85658600-85667400	Weak transcription	Esophagus	oesophagus
17	chr11:85658600-85673000	Weak transcription	Right Ventricle	heart
18	chr11:85658800-85664600	Weak transcription	Thymus	Thymus
19	chr11:85658800-85665400	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr11:85659000-85665000	Weak transcription	Duodenum Mucosa	Duodenum
21	chr11:85659200-85664400	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr11:85659400-85664400	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr11:85659400-85664400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr11:85659400-85664600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr11:85659400-85665400	Weak transcription	Right Atrium	heart
26	chr11:85659400-85665400	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr11:85659400-85666400	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr11:85659400-85745800	Weak transcription	Stomach Mucosa	stomach
29	chr11:85659600-85664200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr11:85659600-85664400	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr11:85659600-85664400	Weak transcription	HSMMtube	muscle
32	chr11:85659600-85664600	Weak transcription	Fetal Stomach	stomach
33	chr11:85659600-85666200	Weak transcription	Rectal Smooth Muscle	rectum
34	chr11:85659600-85666400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr11:85659800-85666800	Weak transcription	Fetal Lung	lung
36	chr11:85660000-85666400	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr11:85660200-85664200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr11:85660200-85664200	Weak transcription	Brain Anterior Caudate	brain
39	chr11:85660200-85664400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr11:85660200-85664400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr11:85660200-85664400	Weak transcription	Adipose Nuclei	Adipose
42	chr11:85660200-85664400	Weak transcription	HSMM	muscle
43	chr11:85660200-85664400	Weak transcription	NH-A	brain
44	chr11:85660200-85664400	Weak transcription	NHLF	lung
45	chr11:85660200-85664600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr11:85660200-85664600	Weak transcription	Brain Substantia Nigra	brain
47	chr11:85660200-85664600	Weak transcription	Fetal Kidney	kidney
48	chr11:85660200-85664800	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr11:85660200-85665000	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr11:85660200-85666200	Weak transcription	Brain Inferior Temporal Lobe	brain

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