Variant report

Variant	rs73113095
Chromosome Location	chr5:68711929-68711930
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	SIN3AK20	chr5:68710563-68711936	MCF-7	breast:	n/a	n/a
2	ESR1	chr5:68711903-68712352	ECC-1	luminal epithelium:	n/a	n/a
3	CHD1	chr5:68711008-68712376	H1-hESC	embryonic stem cell:	n/a	n/a
4	SIN3A	chr5:68710638-68712324	H1-hESC	embryonic stem cell:	n/a	chr5:68711354-68711368 chr5:68711019-68711028 chr5:68711017-68711026
5	POLR2A	chr5:68710641-68713455	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr5:68710563-68712533	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:68664291..68666075-chr5:68709843..68712396,3	MCF-7	breast:
2	chr5:68711082..68712894-chr5:68825364..68828331,2	MCF-7	breast:
3	chr5:68709515..68715463-chr5:68785927..68791978,14	MCF-7	breast:
4	chr5:68708231..68714128-chr5:68786986..68792913,14	MCF-7	breast:

Variant related genes	Relation type
MARVELD2	TF binding region
ENSG00000152942	Chromatin interaction
ENSG00000212260	Chromatin interaction
ENSG00000085231	Chromatin interaction
ENSG00000197822	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11396193	1.00[AMR][1000 genomes]
rs58179291	1.00[AMR][1000 genomes]
rs73113039	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73113042	1.00[AMR][1000 genomes]
rs73113058	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73113069	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73113070	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73113084	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73113098	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881767	chr5:68625786-68733698	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1018410	chr5:68692244-68822384	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68668000-68713000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:68668800-68712400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:68697800-68717000	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr5:68701200-68713800	Weak transcription	K562	blood
5	chr5:68707800-68712800	Weak transcription	HSMMtube	muscle
6	chr5:68710000-68712000	Strong transcription	Muscle Satellite Cultured Cells	--
7	chr5:68710200-68712200	Active TSS	Fetal Kidney	kidney
8	chr5:68710400-68712000	Active TSS	A549	lung
9	chr5:68710400-68712200	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr5:68710400-68712200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr5:68710400-68712600	Active TSS	H1 Cell Line	embryonic stem cell
12	chr5:68710600-68712000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr5:68710600-68712000	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr5:68710600-68712200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr5:68710600-68712200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr5:68710600-68712200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr5:68710600-68712200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr5:68710600-68712200	Active TSS	Duodenum Mucosa	Duodenum
19	chr5:68710600-68712200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr5:68710600-68712400	Active TSS	H9 Cell Line	embryonic stem cell
21	chr5:68710600-68712400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr5:68710600-68712400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr5:68710600-68712400	Active TSS	Colonic Mucosa	Colon
24	chr5:68710600-68712400	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr5:68710600-68712400	Active TSS	Fetal Lung	lung
26	chr5:68710600-68712400	Active TSS	Placenta Amnion	Placenta Amnion
27	chr5:68710600-68712400	Active TSS	Rectal Smooth Muscle	rectum
28	chr5:68710600-68712800	Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr5:68710600-68712800	Active TSS	Fetal Intestine Small	intestine
30	chr5:68710600-68712800	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr5:68710600-68713200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr5:68710800-68712000	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr5:68710800-68712000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr5:68710800-68712000	Active TSS	Rectal Mucosa Donor 31	rectum
35	chr5:68710800-68712000	Active TSS	NHEK	skin
36	chr5:68710800-68712200	Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr5:68710800-68712200	Active TSS	Liver	Liver
38	chr5:68710800-68712200	Active TSS	Esophagus	oesophagus
39	chr5:68710800-68712200	Active TSS	HMEC	breast
40	chr5:68710800-68712400	Active TSS	Gastric	stomach
41	chr5:68710800-68712600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr5:68710800-68712800	Active TSS	Fetal Intestine Large	intestine
43	chr5:68710800-68712800	Active TSS	Pancreas	Pancrea
44	chr5:68710800-68712800	Active TSS	Rectal Mucosa Donor 29	rectum
45	chr5:68711000-68712400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr5:68711000-68712800	Active TSS	Stomach Mucosa	stomach
47	chr5:68711000-68713800	Weak transcription	HSMM	muscle
48	chr5:68711200-68712200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
49	chr5:68711200-68712200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
50	chr5:68711400-68712400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell

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