Variant report

Variant	rs4944034
Chromosome Location	chr11:73503849-73503850
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	chr11:73502201..73506275-chr11:73584867..73589472,4	MCF-7	breast:
2	chr11:73498673..73501559-chr11:73502967..73505428,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000181924	Chromatin interaction
ENSG00000175575	Chromatin interaction
ENSG00000175581	Chromatin interaction

Extended variants
information (count: 100 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs1043234	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10501412	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10898943	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10898947	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10898949	0.86[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11235843	1.00[CEU][hapmap]
rs11235844	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs11235850	0.82[EUR][1000 genomes]
rs11235851	0.92[CHB][hapmap];0.82[EUR][1000 genomes]
rs11235852	0.86[EUR][1000 genomes]
rs11235859	0.85[EUR][1000 genomes]
rs11235860	0.86[EUR][1000 genomes]
rs11235864	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11235875	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11235881	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11235882	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11235885	0.97[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11235886	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11235887	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11235888	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11235898	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235905	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235907	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235908	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235910	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235913	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235914	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235915	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235920	0.90[CEU][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11235922	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11235925	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11235927	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11235931	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11235933	1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11235934	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11235937	0.86[CHB][hapmap]
rs11235939	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11235947	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12365044	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12365080	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12366033	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs12420099	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12420751	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12421077	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12421900	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17132369	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17132397	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17132403	0.86[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17132411	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1723840	0.80[CHB][hapmap];0.84[ASN][1000 genomes]
rs1814547	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1830069	0.81[ASN][1000 genomes]
rs1869433	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2037710	0.85[EUR][1000 genomes]
rs2067912	0.84[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2140892	0.81[ASN][1000 genomes]
rs3211165	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3741137	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3825003	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs4537782	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4944028	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4944029	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4944032	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4944033	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4944856	1.00[CEU][hapmap];0.82[JPT][hapmap];0.86[EUR][1000 genomes]
rs4944862	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4944868	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4944869	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55910552	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58862453	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs60020777	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60074535	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs60239378	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs60812833	0.82[ASN][1000 genomes]
rs6590	1.00[CEU][hapmap]
rs66481935	0.82[EUR][1000 genomes]
rs66556722	0.86[EUR][1000 genomes]
rs66610247	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66626689	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs67167213	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67259239	0.92[ASN][1000 genomes]
rs67488767	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs68128239	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7115166	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7119528	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72974840	0.82[EUR][1000 genomes]
rs72974866	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72974869	0.87[EUR][1000 genomes]
rs72976852	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72982926	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72982937	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72989228	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7929705	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7939193	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7942963	1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
3	nsv1045149	chr11:73314565-73581908	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv530641	chr11:73358393-73638725	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	esv3426251	chr11:73461503-73538032	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4944034	WDR71	cis	multi-tissue	Pritchard

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73499400-73507000	Weak transcription	Gastric	stomach
2	chr11:73499400-73507000	Weak transcription	Lung	lung
3	chr11:73499400-73507000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr11:73499400-73507200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:73499600-73529200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr11:73499600-73549600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr11:73499600-73583800	Weak transcription	Aorta	Aorta
8	chr11:73499800-73504800	Weak transcription	Fetal Stomach	stomach
9	chr11:73499800-73507000	Weak transcription	Esophagus	oesophagus
10	chr11:73499800-73507000	Weak transcription	Spleen	Spleen
11	chr11:73499800-73507200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr11:73499800-73507200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr11:73499800-73507200	Weak transcription	Ovary	ovary
14	chr11:73499800-73529400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr11:73500000-73507000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr11:73500000-73507000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr11:73500000-73507000	Weak transcription	Thymus	Thymus
18	chr11:73500000-73507200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr11:73500000-73507600	Weak transcription	Stomach Smooth Muscle	stomach
20	chr11:73500000-73516200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr11:73500000-73518200	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr11:73500000-73519000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr11:73500000-73520800	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr11:73500000-73526800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr11:73500200-73507000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr11:73500200-73507000	Weak transcription	Fetal Muscle Trunk	muscle
27	chr11:73500200-73507000	Weak transcription	Fetal Thymus	thymus
28	chr11:73500200-73507200	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr11:73500200-73507200	Weak transcription	Adipose Nuclei	Adipose
30	chr11:73500200-73507200	Weak transcription	Pancreas	Pancrea
31	chr11:73500200-73507400	Weak transcription	Placenta	Placenta
32	chr11:73500200-73507400	Weak transcription	Right Atrium	heart
33	chr11:73500200-73508200	Weak transcription	Primary B cells from peripheral blood	blood
34	chr11:73500200-73518800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr11:73500200-73519200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr11:73500200-73526800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr11:73500200-73528200	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr11:73500200-73574200	Weak transcription	Right Ventricle	heart
39	chr11:73500400-73506200	Weak transcription	HUVEC	blood vessel
40	chr11:73500400-73506400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr11:73500400-73506800	Weak transcription	Fetal Heart	heart
42	chr11:73500400-73507000	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr11:73500400-73507200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr11:73500400-73507200	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr11:73500400-73508200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:73500400-73517600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr11:73500400-73537000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr11:73500400-73542200	Weak transcription	Rectal Smooth Muscle	rectum
49	chr11:73500400-73571400	Weak transcription	Fetal Brain Male	brain
50	chr11:73500400-73583800	Weak transcription	Colonic Mucosa	Colon

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