Variant report

Variant	rs113878380
Chromosome Location	chr7:111594887-111594888
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	ELF1	chr7:111594425-111594936	K562	blood:	n/a	chr7:111594648-111594661
2	GABPA	chr7:111594496-111594916	K562	blood:	n/a	n/a
3	MAX	chr7:111594522-111594906	K562	blood:	n/a	n/a
4	YY1	chr7:111594507-111594917	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:111592856..111595719-chr7:112049563..112051825,3	MCF-7	breast:
2	chr7:111593889..111595739-chr7:112089103..112091961,2	MCF-7	breast:

Variant related genes	Relation type
RNA5SP237	TF binding region
ENSG00000226851	Chromatin interaction
ENSG00000006652	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv608196	chr7:111073710-111794368	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv1021527	chr7:111194596-111851619	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv539086	chr7:111194596-111851619	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1028740	chr7:111227747-111679401	Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking 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	10 gene(s)	inside rSNPs	diseases
5	nsv1015267	chr7:111303294-111714771	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv539087	chr7:111303294-111714771	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv539088	chr7:111333899-111722341	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS 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	10 gene(s)	inside rSNPs	diseases
8	nsv531435	chr7:111333900-111926292	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv491934	chr7:111333900-111975504	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer 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	15 gene(s)	inside rSNPs	diseases
10	nsv532335	chr7:111411990-112054905	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
11	nsv533924	chr7:111529515-111784369	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
12	esv1796107	chr7:111545812-111625713	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
13	nsv1023261	chr7:111593889-111780337	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111580400-111599200	Weak transcription	Fetal Brain Female	brain
2	chr7:111583000-111610800	Weak transcription	Fetal Stomach	stomach
3	chr7:111583600-111596400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr7:111583600-111598800	Weak transcription	Aorta	Aorta
5	chr7:111583600-111599000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:111583600-111630800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:111584200-111631800	Weak transcription	A549	lung
8	chr7:111585200-111630600	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr7:111592200-111595200	Enhancers	Dnd41	blood
10	chr7:111592200-111599200	Enhancers	Fetal Lung	lung
11	chr7:111592800-111595200	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr7:111593000-111595200	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr7:111593000-111595200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr7:111593000-111595200	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr7:111593000-111595600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr7:111593000-111600000	Enhancers	Brain Anterior Caudate	brain
17	chr7:111593200-111595200	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr7:111593200-111595200	Enhancers	Brain Angular Gyrus	brain
19	chr7:111593200-111596400	Enhancers	Fetal Kidney	kidney
20	chr7:111593200-111596800	Enhancers	Brain Substantia Nigra	brain
21	chr7:111593400-111595600	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr7:111593400-111597000	Enhancers	Brain Hippocampus Middle	brain
23	chr7:111593600-111595000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr7:111593600-111595000	Enhancers	Lung	lung
25	chr7:111593600-111595400	Enhancers	Brain Cingulate Gyrus	brain
26	chr7:111593600-111598200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr7:111593600-111638200	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr7:111593800-111596600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr7:111593800-111598200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr7:111593800-111599000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr7:111593800-111599200	Weak transcription	Psoas Muscle	Psoas
32	chr7:111593800-111602800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr7:111594200-111595000	Enhancers	Right Atrium	heart
34	chr7:111594200-111595000	Enhancers	Right Ventricle	heart
35	chr7:111594200-111595200	Enhancers	Esophagus	oesophagus
36	chr7:111594200-111595200	Enhancers	Left Ventricle	heart
37	chr7:111594200-111595200	Enhancers	Ovary	ovary
38	chr7:111594200-111595200	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr7:111594400-111595000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:111594400-111595000	Enhancers	Placenta	Placenta
41	chr7:111594400-111598400	Weak transcription	Liver	Liver
42	chr7:111594400-111599000	Weak transcription	HMEC	breast
43	chr7:111594400-111599200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr7:111594400-111599200	Weak transcription	NHEK	skin
45	chr7:111594600-111595000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr7:111594600-111595000	Enhancers	Fetal Muscle Trunk	muscle
47	chr7:111594600-111595000	Flanking Active TSS	K562	blood
48	chr7:111594600-111595400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr7:111594600-111599200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr7:111594800-111595000	Enhancers	HUVEC	blood vessel

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