Variant report

Variant	rs10071732
Chromosome Location	chr5:41931157-41931158
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:41930041..41932938-chr5:43007165..43008995,2	K562	blood:
2	chr5:41930289..41936071-chr5:41937157..41941709,9	K562	blood:
3	chr5:41866709..41868950-chr5:41930527..41932665,2	K562	blood:
4	chr5:41923702..41927388-chr5:41928373..41931885,4	MCF-7	breast:
5	chr5:41929223..41932201-chr5:41933782..41936776,4	K562	blood:

Variant related genes	Relation type
ENSG00000151876	Chromatin interaction
ENSG00000271788	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10037152	0.92[AFR][1000 genomes]
rs10039091	0.80[AFR][1000 genomes]
rs10051536	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs10054482	0.84[AFR][1000 genomes]
rs10061961	0.96[AFR][1000 genomes]
rs10072903	0.80[AFR][1000 genomes]
rs10079775	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs10080034	0.84[AFR][1000 genomes]
rs10473254	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs13354429	0.80[AFR][1000 genomes]
rs13358155	0.80[AFR][1000 genomes]
rs16872021	0.96[AFR][1000 genomes]
rs9292830	1.00[YRI][hapmap];0.96[AFR][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	esv2762518	chr5:41780210-41935113	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	108 gene(s)	inside rSNPs	diseases
2	nsv830272	chr5:41833365-41986167	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	111 gene(s)	inside rSNPs	diseases
3	nsv830273	chr5:41867296-42066070	Flanking Active TSS Active TSS Genic enhancers Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	111 gene(s)	inside rSNPs	diseases
4	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
5	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:41926000-41935400	Weak transcription	Aorta	Aorta
2	chr5:41926000-41937600	Weak transcription	Fetal Brain Male	brain
3	chr5:41926000-41937600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr5:41926000-41940600	Weak transcription	Ovary	ovary
5	chr5:41926000-41951400	Weak transcription	Gastric	stomach
6	chr5:41926200-41931600	Weak transcription	Fetal Thymus	thymus
7	chr5:41926200-41931800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr5:41926200-41932800	Weak transcription	Small Intestine	intestine
9	chr5:41926200-41933200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr5:41926200-41934000	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr5:41926200-41934000	Weak transcription	Placenta	Placenta
12	chr5:41926200-41934200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr5:41926200-41934200	Weak transcription	Brain Substantia Nigra	brain
14	chr5:41926200-41934200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr5:41926200-41934200	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr5:41926200-41934200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr5:41926200-41935000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr5:41926200-41935400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr5:41926200-41935400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr5:41926200-41935400	Weak transcription	Brain Angular Gyrus	brain
21	chr5:41926200-41935400	Weak transcription	Brain Cingulate Gyrus	brain
22	chr5:41926200-41935400	Weak transcription	Fetal Muscle Trunk	muscle
23	chr5:41926200-41935400	Weak transcription	Fetal Muscle Leg	muscle
24	chr5:41926200-41935400	Weak transcription	Fetal Stomach	stomach
25	chr5:41926200-41935400	Weak transcription	Left Ventricle	heart
26	chr5:41926200-41935400	Weak transcription	Lung	lung
27	chr5:41926200-41935400	Weak transcription	Psoas Muscle	Psoas
28	chr5:41926200-41935400	Weak transcription	Right Ventricle	heart
29	chr5:41926200-41936800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr5:41926200-41937200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr5:41926200-41937400	Weak transcription	Fetal Brain Female	brain
32	chr5:41926200-41937400	Weak transcription	Fetal Kidney	kidney
33	chr5:41926200-41939000	Weak transcription	Colon Smooth Muscle	Colon
34	chr5:41926200-41940800	Weak transcription	HSMMtube	muscle
35	chr5:41926200-41940800	Weak transcription	NHDF-Ad	bronchial
36	chr5:41926200-41941000	Weak transcription	NHLF	lung
37	chr5:41926200-41943200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr5:41926200-41945000	Weak transcription	HSMM	muscle
39	chr5:41926200-41945200	Weak transcription	Esophagus	oesophagus
40	chr5:41926200-41945400	Weak transcription	Fetal Lung	lung
41	chr5:41926200-41946800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr5:41926200-41947000	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr5:41926400-41931200	Weak transcription	Primary B cells from cord blood	blood
44	chr5:41926400-41931200	Weak transcription	A549	lung
45	chr5:41926400-41931600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr5:41926400-41931600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr5:41926400-41931600	Weak transcription	Brain Hippocampus Middle	brain
48	chr5:41926400-41934000	Weak transcription	Brain Anterior Caudate	brain
49	chr5:41926400-41934200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr5:41926400-41934200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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