Variant report

Variant	rs6971171
Chromosome Location	chr7:140305558-140305559
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr7:140305227-140305574	IMR90	lung:	n/a	chr7:140305458-140305478
2	POLR2A	chr7:140304330-140305658	IMR90	lung:	n/a	n/a
3	RAD21	chr7:140305164-140305605	H1-hESC	embryonic stem cell:	n/a	n/a
4	RAD21	chr7:140305034-140305559	IMR90	lung:	n/a	chr7:140305060-140305072
5	CTCF	chr7:140305520-140305670	NHEK	skin:	n/a	n/a
6	RCOR1	chr7:140303803-140305940	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:140304917..140305573-chr7:140352877..140353424,2	MCF-7	breast:
2	chr7:140299787..140302664-chr7:140303935..140306575,2	K562	blood:

Variant related genes	Relation type
DENND2A	TF binding region
ENSG00000201354	TF binding region
ENSG00000146966	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs3748092	1.00[AMR][1000 genomes]
rs6464117	1.00[AMR][1000 genomes]
rs6464879	1.00[AMR][1000 genomes]
rs6944394	1.00[AMR][1000 genomes]
rs6949464	1.00[AMR][1000 genomes]
rs6950159	1.00[AMR][1000 genomes]
rs6952069	1.00[AMR][1000 genomes]
rs6959000	1.00[AMR][1000 genomes]
rs6977514	1.00[AMR][1000 genomes]
rs71645969	1.00[AMR][1000 genomes]
rs71645975	1.00[AMR][1000 genomes]
rs71645997	1.00[AMR][1000 genomes]
rs7806874	1.00[AMR][1000 genomes]
rs7810002	1.00[AMR][1000 genomes]
rs9691722	1.00[AMR][1000 genomes]
rs9691914	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831157	chr7:140241339-140426876	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1021133	chr7:140270797-140338653	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv1029128	chr7:140293389-140335570	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140263800-140305600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:140267800-140326000	Weak transcription	Gastric	stomach
3	chr7:140269400-140306600	Weak transcription	Right Atrium	heart
4	chr7:140281600-140306400	Weak transcription	Brain Angular Gyrus	brain
5	chr7:140285800-140306400	Weak transcription	Colon Smooth Muscle	Colon
6	chr7:140287600-140305600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr7:140287600-140326000	Weak transcription	Fetal Brain Male	brain
8	chr7:140296000-140326000	Weak transcription	Fetal Heart	heart
9	chr7:140297600-140313600	Weak transcription	Fetal Kidney	kidney
10	chr7:140297800-140306800	Weak transcription	Spleen	Spleen
11	chr7:140299200-140306800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr7:140302200-140306200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr7:140302200-140306200	Weak transcription	Brain Hippocampus Middle	brain
14	chr7:140302200-140306400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr7:140302200-140306400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr7:140302200-140307000	Weak transcription	Brain Germinal Matrix	brain
17	chr7:140302200-140326200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:140302400-140306200	Weak transcription	Brain Substantia Nigra	brain
19	chr7:140302400-140306200	Weak transcription	Rectal Smooth Muscle	rectum
20	chr7:140302400-140306400	Weak transcription	Brain Anterior Caudate	brain
21	chr7:140302400-140307200	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr7:140302400-140307600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:140302400-140326200	Weak transcription	Fetal Brain Female	brain
24	chr7:140302800-140306800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr7:140302800-140326000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:140303400-140305600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr7:140303600-140305600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr7:140303600-140306400	Weak transcription	Placenta	Placenta
29	chr7:140303600-140307600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr7:140303800-140305600	Enhancers	Ovary	ovary
31	chr7:140303800-140305800	Enhancers	A549	lung
32	chr7:140303800-140310800	Enhancers	NHDF-Ad	bronchial
33	chr7:140304000-140305600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr7:140304000-140306400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr7:140304000-140306800	Weak transcription	Duodenum Mucosa	Duodenum
36	chr7:140304200-140305800	Enhancers	NH-A	brain
37	chr7:140304200-140307200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr7:140304200-140312200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr7:140304400-140305600	Enhancers	Osteobl	bone
40	chr7:140304600-140306400	Weak transcription	Fetal Lung	lung
41	chr7:140304600-140308200	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr7:140304800-140305600	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr7:140304800-140305800	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr7:140304800-140306000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr7:140304800-140307200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr7:140305000-140305600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr7:140305000-140305600	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr7:140305000-140305800	Enhancers	Small Intestine	intestine
49	chr7:140305000-140307000	Weak transcription	Lung	lung
50	chr7:140305000-140307800	Enhancers	Left Ventricle	heart

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