Variant report

Variant	rs6592578
Chromosome Location	chr11:74364527-74364528
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:74360160..74362009-chr11:74364240..74366115,2	K562	blood:
2	chr11:74312756..74315625-chr11:74364320..74367286,2	K562	blood:

Variant related genes	Relation type
ENSG00000077514	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10751239	0.81[ASN][1000 genomes]
rs10793095	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10857	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10899010	0.94[ASN][1000 genomes]
rs10899016	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11236154	0.82[ASN][1000 genomes]
rs12421418	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1433969	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1893362	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1944935	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1971114	0.82[ASN][1000 genomes]
rs2298572	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4514450	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4584608	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4627114	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4944047	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4944048	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4944049	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4944050	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4944054	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4944055	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4944056	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4944057	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4944904	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4944911	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4944916	0.88[ASN][1000 genomes]
rs4944920	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4944921	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4944924	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4944926	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4944928	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4944929	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4944930	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4944931	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6592568	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6592574	0.95[ASN][1000 genomes]
rs6592575	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6592576	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6592579	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592580	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592581	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592582	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7106984	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7110993	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7111251	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7111273	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7113533	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7118314	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7120069	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7122810	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7126573	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7126957	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7127499	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7127628	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7127630	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7127668	0.91[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs7130694	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7131096	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7924701	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7925341	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7925747	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7929876	0.94[ASN][1000 genomes]
rs7933770	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7934301	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7934321	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7934742	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7935057	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7935260	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7937232	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7938931	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7947345	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7952661	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9651760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9651761	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9651762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9651763	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757451	chr11:73842609-74545888	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	esv2759837	chr11:73842609-74557597	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	esv34979	chr11:73878688-74533452	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer 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 miRNA target site	85 gene(s)	inside rSNPs	diseases
4	esv2758277	chr11:73887567-74557597	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv825994	chr11:73936667-74534455	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
6	nsv932190	chr11:74359867-74618935	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74304600-74373800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:74314000-74370200	Weak transcription	Psoas Muscle	Psoas
3	chr11:74319200-74366000	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr11:74321600-74364800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:74331400-74383400	Weak transcription	Brain Substantia Nigra	brain
6	chr11:74346800-74364800	Weak transcription	Fetal Intestine Small	intestine
7	chr11:74347000-74367400	Weak transcription	Gastric	stomach
8	chr11:74351800-74374200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:74352400-74365000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr11:74352600-74365000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr11:74352600-74365800	Weak transcription	Pancreas	Pancrea
12	chr11:74352600-74373600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr11:74352600-74383400	Weak transcription	Brain Hippocampus Middle	brain
14	chr11:74352800-74365200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr11:74352800-74365200	Weak transcription	Fetal Brain Male	brain
16	chr11:74352800-74366200	Weak transcription	Brain Germinal Matrix	brain
17	chr11:74352800-74382600	Weak transcription	Spleen	Spleen
18	chr11:74353000-74366600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr11:74353200-74365400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr11:74353200-74369800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr11:74353200-74370000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr11:74353200-74371600	Weak transcription	Fetal Brain Female	brain
23	chr11:74353200-74381400	Weak transcription	Small Intestine	intestine
24	chr11:74353200-74383600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr11:74353400-74366000	Weak transcription	Primary B cells from peripheral blood	blood
26	chr11:74353400-74369400	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr11:74353400-74371400	Weak transcription	Ovary	ovary
28	chr11:74353400-74373600	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr11:74353400-74377000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr11:74353600-74377600	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr11:74353800-74365400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr11:74353800-74366000	Weak transcription	Primary B cells from cord blood	blood
33	chr11:74354000-74365200	Weak transcription	Fetal Intestine Large	intestine
34	chr11:74354400-74364800	Weak transcription	NHEK	skin
35	chr11:74354400-74368600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr11:74356800-74380400	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr11:74357000-74366600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr11:74357000-74383400	Weak transcription	Brain Anterior Caudate	brain
39	chr11:74358200-74364800	Weak transcription	Left Ventricle	heart
40	chr11:74358200-74366000	Weak transcription	Primary hematopoietic stem cells	blood
41	chr11:74358200-74374600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr11:74358400-74365000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr11:74358600-74365600	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr11:74358600-74370000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr11:74358600-74373200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr11:74359200-74365400	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr11:74359600-74364800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr11:74359600-74367800	Weak transcription	GM12878-XiMat	blood
49	chr11:74359600-74375400	Weak transcription	Esophagus	oesophagus
50	chr11:74359800-74365200	Weak transcription	Fetal Thymus	thymus

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