Variant report

Variant	rs4944555
Chromosome Location	chr11:85760616-85760617
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:85758079..85763459-chr11:85776941..85781307,6	MCF-7	breast:
2	chr11:85759414..85762040-chr11:85764190..85765879,2	K562	blood:
3	chr11:85759677..85764331-chr11:85767246..85771680,6	K562	blood:

Variant related genes	Relation type
ENSG00000073921	Chromatin interaction

Extended variants
information (count: 91 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10128700	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10501603	0.85[CEU][hapmap];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10501605	0.93[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10501607	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10898431	0.85[EUR][1000 genomes]
rs11234489	0.87[EUR][1000 genomes]
rs11234492	0.88[EUR][1000 genomes]
rs11234496	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11234502	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11234512	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11234513	0.87[CEU][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11234517	0.85[CEU][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11234544	0.83[EUR][1000 genomes]
rs11234548	0.83[EUR][1000 genomes]
rs12270433	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12271390	0.83[EUR][1000 genomes]
rs12276435	0.83[EUR][1000 genomes]
rs12277986	0.83[EUR][1000 genomes]
rs12278260	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12279956	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12281494	0.90[EUR][1000 genomes]
rs12281958	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12282655	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12284629	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs12287170	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12292364	0.81[EUR][1000 genomes]
rs12294130	0.81[EUR][1000 genomes]
rs1596739	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17159904	0.84[EUR][1000 genomes]
rs17744938	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17745105	0.93[CEU][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17745153	0.87[CEU][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17745236	0.87[CEU][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17745248	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17745273	0.92[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17745474	0.81[EUR][1000 genomes]
rs17817582	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17817588	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17817690	0.93[CEU][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17817859	0.93[CEU][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17817883	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17817919	0.85[CEU][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17817956	0.93[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2001241	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2084077	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs41381550	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4943934	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4943936	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4943937	0.84[CEU][hapmap];0.90[EUR][1000 genomes]
rs4944550	0.93[CEU][hapmap];0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4944551	1.00[CEU][hapmap];0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4944552	0.87[CEU][hapmap];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4944553	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4944554	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4944556	0.85[CEU][hapmap];0.90[EUR][1000 genomes]
rs55697624	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55791429	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55815523	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56026701	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56187740	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56207019	0.82[EUR][1000 genomes]
rs57125313	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs58937798	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7128598	0.82[EUR][1000 genomes]
rs72949419	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72949429	0.81[AMR][1000 genomes]
rs72949443	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72950443	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72950453	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72950456	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72951266	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72951268	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72959177	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72959197	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72959906	0.90[EUR][1000 genomes]
rs72959929	0.83[EUR][1000 genomes]
rs72961110	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72961111	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72963077	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72963086	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72963092	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72965157	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72965166	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7943152	0.87[CEU][hapmap];1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv898054	chr11:85683554-85772636	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv468774	chr11:85688209-85775059	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv555644	chr11:85688209-85775059	Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv1829985	chr11:85740319-85789350	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv1050948	chr11:85756325-85968665	Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
7	nsv541117	chr11:85756325-85968665	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85746600-85762800	Weak transcription	Stomach Mucosa	stomach
2	chr11:85751400-85761800	Enhancers	Liver	Liver
3	chr11:85751800-85761200	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr11:85752400-85768400	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr11:85752800-85768200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr11:85752800-85776400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr11:85753000-85763000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr11:85753200-85762200	Enhancers	Adipose Nuclei	Adipose
9	chr11:85753200-85764600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr11:85753200-85768000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr11:85754000-85764000	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr11:85754200-85764000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr11:85754200-85765200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr11:85754400-85763000	Weak transcription	HUVEC	blood vessel
15	chr11:85754400-85768200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr11:85754600-85762600	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr11:85755200-85761200	Enhancers	Primary T cells fromperipheralblood	blood
18	chr11:85755200-85762800	Weak transcription	Fetal Lung	lung
19	chr11:85755600-85761400	Weak transcription	Duodenum Mucosa	Duodenum
20	chr11:85755800-85763000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr11:85755800-85764000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr11:85755800-85764000	Weak transcription	HepG2	liver
23	chr11:85756000-85761800	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr11:85756000-85763800	Weak transcription	Spleen	Spleen
25	chr11:85756000-85764200	Weak transcription	Aorta	Aorta
26	chr11:85756000-85765400	Weak transcription	Fetal Muscle Leg	muscle
27	chr11:85756000-85767000	Enhancers	Brain Hippocampus Middle	brain
28	chr11:85756000-85776000	Weak transcription	Esophagus	oesophagus
29	chr11:85756600-85763800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr11:85756600-85763800	Weak transcription	Gastric	stomach
31	chr11:85756600-85765400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr11:85756600-85775400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr11:85756800-85761000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr11:85757400-85762200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr11:85757600-85761800	Enhancers	Primary B cells from cord blood	blood
36	chr11:85757600-85762400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr11:85757800-85760800	Enhancers	Psoas Muscle	Psoas
38	chr11:85758200-85760800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr11:85758200-85765600	Enhancers	Ovary	ovary
40	chr11:85758400-85763000	Weak transcription	Brain Angular Gyrus	brain
41	chr11:85758400-85765400	Weak transcription	HSMM	muscle
42	chr11:85758600-85761200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr11:85758600-85762000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr11:85758600-85762000	Enhancers	Primary B cells from peripheral blood	blood
45	chr11:85758600-85762400	Weak transcription	Stomach Smooth Muscle	stomach
46	chr11:85758600-85762400	Weak transcription	NHLF	lung
47	chr11:85758600-85763600	Weak transcription	Primary hematopoietic stem cells	blood
48	chr11:85758600-85763600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr11:85758600-85763800	Weak transcription	NH-A	brain
50	chr11:85758600-85774400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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