Variant report

Variant	rs17257379
Chromosome Location	chr11:9283013-9283014
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:9280283..9284052-chr11:9480147..9483704,4	K562	blood:
2	chr11:9280208..9281989-chr11:9282127..9285333,4	K562	blood:
3	chr11:9282323..9285944-chr11:9290054..9293255,4	K562	blood:
4	chr11:9280208..9283661-chr11:9285464..9288886,5	K562	blood:

Variant related genes	Relation type
ENSG00000184014	Chromatin interaction
ENSG00000268403	Chromatin interaction
ENSG00000166478	Chromatin interaction

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

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

rs_ID	r²[population]
rs10454487	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10840170	1.00[JPT][hapmap]
rs10840186	1.00[JPT][hapmap]
rs10840188	0.84[CEU][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10840189	0.84[CEU][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042196	0.84[CEU][hapmap];1.00[JPT][hapmap]
rs11042197	1.00[JPT][hapmap]
rs11042215	0.94[CEU][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042217	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11042224	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042228	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042230	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042231	0.82[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042232	0.84[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042233	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042240	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042241	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042242	1.00[ASN][1000 genomes]
rs11042246	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042253	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042257	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11042259	0.99[EUR][1000 genomes]
rs11042268	0.89[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs11042272	0.87[EUR][1000 genomes]
rs11607384	1.00[JPT][hapmap]
rs12286621	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12360767	0.94[CEU][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12362997	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12363645	0.83[EUR][1000 genomes]
rs12363839	0.84[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2133215	0.82[CEU][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2173406	0.84[CEU][hapmap];1.00[JPT][hapmap]
rs4627079	0.99[EUR][1000 genomes]
rs4910443	1.00[JPT][hapmap]
rs4910446	0.99[EUR][1000 genomes]
rs4910447	0.93[EUR][1000 genomes]
rs55962227	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56294473	1.00[ASN][1000 genomes]
rs60693427	1.00[ASN][1000 genomes]
rs6486138	1.00[JPT][hapmap]
rs6486204	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6486209	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66554737	1.00[ASN][1000 genomes]
rs7103472	0.89[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs7113467	0.84[CEU][hapmap]
rs7114013	1.00[JPT][hapmap]
rs7115283	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7115373	0.91[EUR][1000 genomes]
rs7121753	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7129049	0.82[CEU][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7130400	1.00[ASN][1000 genomes]
rs72850512	0.91[EUR][1000 genomes]
rs72850528	0.89[EUR][1000 genomes]
rs72850531	0.89[EUR][1000 genomes]
rs72850544	0.84[EUR][1000 genomes]
rs72850552	0.80[EUR][1000 genomes]
rs72859608	0.82[EUR][1000 genomes]
rs72859676	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72859678	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72859693	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72861335	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72861360	0.93[EUR][1000 genomes]
rs7394454	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7394869	1.00[ASN][1000 genomes]
rs7395631	1.00[ASN][1000 genomes]
rs7396130	1.00[JPT][hapmap]
rs7396541	1.00[JPT][hapmap]
rs7396840	1.00[JPT][hapmap]
rs7929621	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7936622	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7938562	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7939704	0.93[EUR][1000 genomes]
rs7940872	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7945570	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7945759	1.00[JPT][hapmap]
rs7949022	1.00[JPT][hapmap]
rs7949349	0.94[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9645644	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][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	esv3413845	chr11:8887279-9285127	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv33264	chr11:9007612-9311131	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1040049	chr11:9152536-9363488	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv916534	chr11:9188436-9516241	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
5	nsv1053045	chr11:9208881-9363488	Flanking Active TSS Weak transcription Strong transcription Enhancers 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	21 gene(s)	inside rSNPs	diseases
6	nsv540947	chr11:9208881-9363488	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv1055078	chr11:9252857-9538877	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
8	nsv515891	chr11:9275898-9334961	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9253000-9285600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr11:9257000-9284800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr11:9257200-9285600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:9261800-9285600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:9264000-9283400	Weak transcription	Fetal Lung	lung
6	chr11:9264000-9284600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr11:9264200-9285400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr11:9265600-9284600	Weak transcription	Brain Germinal Matrix	brain
9	chr11:9267800-9285600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr11:9270200-9284800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr11:9272000-9284600	Weak transcription	Fetal Brain Female	brain
12	chr11:9272000-9285400	Weak transcription	HSMMtube	muscle
13	chr11:9272600-9285600	Weak transcription	Small Intestine	intestine
14	chr11:9273200-9285400	Weak transcription	K562	blood
15	chr11:9274600-9285400	Weak transcription	Fetal Intestine Large	intestine
16	chr11:9274800-9283400	Weak transcription	Placenta	Placenta
17	chr11:9275200-9285400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr11:9277200-9283200	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr11:9277200-9283600	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr11:9277600-9285400	Weak transcription	Fetal Intestine Small	intestine
21	chr11:9278400-9284000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr11:9278400-9285400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr11:9278600-9285400	Weak transcription	NHEK	skin
24	chr11:9278800-9283200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr11:9279200-9285400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr11:9280400-9284000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr11:9280400-9284800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr11:9280400-9285400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:9281000-9283600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr11:9281200-9283200	Enhancers	Left Ventricle	heart
31	chr11:9281200-9283600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr11:9281200-9283800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr11:9281200-9284200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr11:9281200-9284200	Enhancers	Brain Substantia Nigra	brain
35	chr11:9281200-9284800	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr11:9281200-9284800	Enhancers	Brain Hippocampus Middle	brain
37	chr11:9281200-9285000	Enhancers	Brain Cingulate Gyrus	brain
38	chr11:9281200-9285200	Enhancers	Fetal Heart	heart
39	chr11:9281200-9285400	Enhancers	Primary B cells from cord blood	blood
40	chr11:9281200-9285400	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr11:9281200-9285400	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr11:9281400-9283200	Enhancers	Fetal Stomach	stomach
43	chr11:9281400-9283600	Enhancers	Primary B cells from peripheral blood	blood
44	chr11:9281400-9284200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr11:9281400-9284600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr11:9281400-9284800	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr11:9281400-9285200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr11:9281400-9285600	Weak transcription	Pancreas	Pancrea
49	chr11:9281600-9283200	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr11:9281600-9283800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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