Variant report

Variant	rs73780315
Chromosome Location	chr5:114870748-114870749
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:114630084..114632961-chr5:114870291..114872236,2	K562	blood:
2	chr5:114869947..114871868-chr5:114902039..114905014,2	K562	blood:
3	chr5:114870046..114871711-chr5:114873556..114876513,2	MCF-7	breast:
4	chr5:114865115..114868183-chr5:114868722..114871711,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164221	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11740361	0.95[ASN][1000 genomes]
rs17137925	1.00[ASN][1000 genomes]
rs17472256	0.95[ASN][1000 genomes]
rs17472710	0.95[ASN][1000 genomes]
rs3776801	0.95[ASN][1000 genomes]
rs3776802	0.95[ASN][1000 genomes]
rs73253029	0.83[ASN][1000 genomes]
rs7712026	0.95[ASN][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	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv830455	chr5:114761542-114938284	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1032234	chr5:114785557-114911527	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv1796164	chr5:114854685-114936768	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114856800-114871000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:114857800-114877200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:114858600-114878800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:114858800-114876200	Weak transcription	Fetal Stomach	stomach
5	chr5:114860800-114874000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr5:114860800-114877200	Weak transcription	Colonic Mucosa	Colon
7	chr5:114861000-114878600	Weak transcription	Pancreas	Pancrea
8	chr5:114861000-114878800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr5:114861000-114878800	Weak transcription	Spleen	Spleen
10	chr5:114861200-114871200	Weak transcription	Fetal Lung	lung
11	chr5:114861200-114871600	Weak transcription	HSMMtube	muscle
12	chr5:114861200-114872400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr5:114861200-114874200	Weak transcription	Aorta	Aorta
14	chr5:114861200-114875800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr5:114861200-114878600	Weak transcription	Esophagus	oesophagus
16	chr5:114861400-114871200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr5:114861400-114871200	Weak transcription	Fetal Kidney	kidney
18	chr5:114861400-114871800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr5:114861400-114874200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr5:114861400-114874600	Weak transcription	Thymus	Thymus
21	chr5:114861400-114875400	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr5:114861400-114877200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr5:114861600-114871600	Weak transcription	Placenta	Placenta
24	chr5:114861600-114874200	Weak transcription	Fetal Muscle Trunk	muscle
25	chr5:114861800-114871200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr5:114862800-114871000	Weak transcription	Primary hematopoietic stem cells	blood
27	chr5:114862800-114871200	Weak transcription	Fetal Muscle Leg	muscle
28	chr5:114863000-114871200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr5:114863400-114874600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr5:114863600-114873000	Weak transcription	Ovary	ovary
31	chr5:114863600-114878600	Weak transcription	Gastric	stomach
32	chr5:114863800-114871400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr5:114864200-114874200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr5:114864800-114874000	Weak transcription	Small Intestine	intestine
35	chr5:114866000-114872800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr5:114867600-114871200	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr5:114867600-114871200	Weak transcription	Brain Anterior Caudate	brain
38	chr5:114867600-114872000	Weak transcription	Brain Cingulate Gyrus	brain
39	chr5:114867600-114872400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr5:114867800-114871200	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr5:114867800-114871600	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr5:114867800-114872200	Weak transcription	Brain Hippocampus Middle	brain
43	chr5:114867800-114873000	Weak transcription	Psoas Muscle	Psoas
44	chr5:114867800-114873000	Weak transcription	Right Atrium	heart
45	chr5:114867800-114874000	Weak transcription	Left Ventricle	heart
46	chr5:114867800-114875600	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr5:114868000-114870800	Enhancers	Colon Smooth Muscle	Colon
48	chr5:114868000-114872800	Weak transcription	Stomach Mucosa	stomach
49	chr5:114868200-114871200	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr5:114868200-114872200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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