Variant report

Variant	rs117685206
Chromosome Location	chr5:77941138-77941139
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	EBF1	chr5:77941008-77941246	GM12878	blood:	n/a	chr5:77941160-77941171

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:77940516..77942352-chr5:77943015..77944536,2	MCF-7	breast:

Variant related genes	Relation type
HMGB1P21	TF binding region
LHFPL2	TF binding region
ENSG00000145685	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3522738	chr5:77434730-78063683	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv3522739	chr5:77434730-78063683	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv949530	chr5:77830403-78477017	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv830356	chr5:77847022-78011999	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1021768	chr5:77881915-78465489	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	esv2762527	chr5:77921199-78548196	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	esv1792242	chr5:77927033-77966625	Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv1841124	chr5:77937453-77944988	Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv528833	chr5:77937453-78016860	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv598701	chr5:77940790-77944988	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:77928200-77942400	Weak transcription	Primary B cells from cord blood	blood
2	chr5:77931000-77942800	Weak transcription	K562	blood
3	chr5:77933800-77941400	Weak transcription	Right Atrium	heart
4	chr5:77933800-77943200	Weak transcription	Esophagus	oesophagus
5	chr5:77934600-77942400	Weak transcription	Colonic Mucosa	Colon
6	chr5:77935200-77942000	Weak transcription	Right Ventricle	heart
7	chr5:77935200-77942600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr5:77935400-77942000	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr5:77935400-77942600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr5:77936000-77942600	Weak transcription	Fetal Brain Female	brain
11	chr5:77937000-77942600	Weak transcription	Left Ventricle	heart
12	chr5:77937000-77942600	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr5:77937000-77943200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr5:77937000-77943200	Weak transcription	Psoas Muscle	Psoas
15	chr5:77937200-77941200	Weak transcription	Adipose Nuclei	Adipose
16	chr5:77937200-77942000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr5:77937200-77942000	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr5:77937200-77942000	Weak transcription	Fetal Heart	heart
19	chr5:77937200-77942000	Weak transcription	Small Intestine	intestine
20	chr5:77937200-77942000	Weak transcription	NHLF	lung
21	chr5:77937200-77942200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:77937200-77942400	Weak transcription	HSMM	muscle
23	chr5:77937200-77942600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr5:77937200-77942600	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr5:77937200-77942600	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr5:77937200-77942800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr5:77937200-77942800	Enhancers	HepG2	liver
28	chr5:77937200-77943000	Weak transcription	Brain Angular Gyrus	brain
29	chr5:77937200-77943200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:77937200-77943200	Weak transcription	Gastric	stomach
31	chr5:77937400-77942000	Weak transcription	HUVEC	blood vessel
32	chr5:77937400-77942600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr5:77937400-77943000	Weak transcription	Brain Cingulate Gyrus	brain
34	chr5:77937600-77942000	Genic enhancers	A549	lung
35	chr5:77937600-77942200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr5:77937800-77941800	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr5:77938000-77942000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr5:77938600-77941800	Weak transcription	Primary B cells from peripheral blood	blood
39	chr5:77938800-77942600	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr5:77939000-77941800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr5:77939000-77941800	Weak transcription	Duodenum Mucosa	Duodenum
42	chr5:77939000-77943200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr5:77939000-77943200	Weak transcription	Lung	lung
44	chr5:77939000-77943200	Weak transcription	Pancreas	Pancrea
45	chr5:77939400-77942000	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr5:77939400-77942200	Weak transcription	Fetal Intestine Large	intestine
47	chr5:77940000-77941200	Enhancers	Brain Hippocampus Middle	brain
48	chr5:77940000-77941400	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr5:77940200-77941800	Genic enhancers	HSMMtube	muscle
50	chr5:77940200-77942400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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