Variant report

Variant	rs4944931
Chromosome Location	chr11:74371366-74371367
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10751239	0.80[ASN][1000 genomes]
rs10793095	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10857	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10899010	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10899016	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12421418	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1433969	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1893362	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1944935	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2298572	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4514450	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4584608	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4627114	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4944047	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4944048	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4944049	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4944050	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4944054	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4944055	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4944056	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4944057	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4944904	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4944911	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4944916	0.84[ASN][1000 genomes]
rs4944920	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4944921	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4944924	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4944926	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4944928	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4944929	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4944930	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6592568	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6592574	0.91[ASN][1000 genomes]
rs6592575	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6592576	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6592578	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6592579	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6592580	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6592581	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6592582	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7106984	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7110993	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7111251	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7111273	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7113533	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7118314	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7120069	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7122810	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7126573	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7126957	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7127499	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7127628	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7127630	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7127668	0.88[ASN][1000 genomes]
rs7130694	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7131096	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7924701	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7925341	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7925747	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7929876	0.90[ASN][1000 genomes]
rs7933770	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7934301	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7934321	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7934742	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7935057	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7935260	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7937232	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7938931	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7947345	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7952661	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9651760	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9651761	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9651762	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9651763	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[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:53 , 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	chr11:74331400-74383400	Weak transcription	Brain Substantia Nigra	brain
3	chr11:74351800-74374200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:74352600-74373600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr11:74352600-74383400	Weak transcription	Brain Hippocampus Middle	brain
6	chr11:74352800-74382600	Weak transcription	Spleen	Spleen
7	chr11:74353200-74371600	Weak transcription	Fetal Brain Female	brain
8	chr11:74353200-74381400	Weak transcription	Small Intestine	intestine
9	chr11:74353200-74383600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr11:74353400-74371400	Weak transcription	Ovary	ovary
11	chr11:74353400-74373600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr11:74353400-74377000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr11:74353600-74377600	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr11:74356800-74380400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr11:74357000-74383400	Weak transcription	Brain Anterior Caudate	brain
16	chr11:74358200-74374600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr11:74358600-74373200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr11:74359600-74375400	Weak transcription	Esophagus	oesophagus
19	chr11:74359800-74382400	Weak transcription	Hela-S3	cervix
20	chr11:74360000-74373000	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr11:74361400-74382800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr11:74362000-74372200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr11:74362000-74382600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr11:74362200-74372800	Weak transcription	Fetal Muscle Leg	muscle
25	chr11:74362200-74375000	Weak transcription	Rectal Smooth Muscle	rectum
26	chr11:74362200-74382600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr11:74362600-74382600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr11:74363000-74377200	Weak transcription	Duodenum Mucosa	Duodenum
29	chr11:74363200-74383000	Weak transcription	Primary T cells from cord blood	blood
30	chr11:74364000-74372600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr11:74364200-74375200	Weak transcription	Dnd41	blood
32	chr11:74365400-74373000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr11:74365600-74383000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr11:74365800-74382800	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr11:74366000-74372400	Weak transcription	Fetal Stomach	stomach
36	chr11:74366000-74373000	Weak transcription	Pancreas	Pancrea
37	chr11:74366200-74372600	Weak transcription	Aorta	Aorta
38	chr11:74366400-74381400	Weak transcription	A549	lung
39	chr11:74367600-74374200	Weak transcription	Gastric	stomach
40	chr11:74369200-74385400	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr11:74370400-74372000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
42	chr11:74370400-74373600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr11:74370400-74374600	Weak transcription	Thymus	Thymus
44	chr11:74370400-74380800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr11:74370400-74384000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr11:74370400-74384000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr11:74370600-74373600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr11:74370600-74375400	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr11:74370800-74372600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:74370800-74383200	Weak transcription	Stomach Smooth Muscle	stomach

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