Variant report

Variant	rs73798645
Chromosome Location	chr4:8193267-8193268
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:8159731..8162461-chr4:8191940..8193551,2	MCF-7	breast:
2	chr2:241500035..241500801-chr4:8192986..8193759,2	HCT-116	colon:

Variant related genes	Relation type
ENSG00000163995	Chromatin interaction
ENSG00000144504	Chromatin interaction
ENSG00000188542	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1281116	0.85[EUR][1000 genomes]
rs1281121	0.85[EUR][1000 genomes]
rs55727461	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56133518	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56318069	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56773912	0.96[EUR][1000 genomes]
rs58214166	0.98[EUR][1000 genomes]
rs58829078	0.97[EUR][1000 genomes]
rs59350156	0.98[EUR][1000 genomes]
rs61366997	0.95[EUR][1000 genomes]
rs73077982	0.93[EUR][1000 genomes]
rs73077985	0.93[EUR][1000 genomes]
rs73077988	0.93[EUR][1000 genomes]
rs73077994	0.93[EUR][1000 genomes]
rs73077998	0.92[EUR][1000 genomes]
rs73079705	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73079711	0.84[EUR][1000 genomes]
rs73798643	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73798644	0.87[EUR][1000 genomes]
rs73800411	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73800413	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878591	chr4:8063501-8207083	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1010809	chr4:8097627-8292324	Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1002794	chr4:8110083-8490934	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv878593	chr4:8125788-8233341	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv461216	chr4:8154534-8276411	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv593626	chr4:8154534-8276411	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv878594	chr4:8154534-8286916	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv878595	chr4:8154534-8390646	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv470012	chr4:8171401-8233341	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers 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	11 gene(s)	inside rSNPs	diseases
10	nsv878596	chr4:8171401-8254784	Genic enhancers Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv878597	chr4:8171401-8294196	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
12	nsv829853	chr4:8172065-8320868	Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8185200-8202600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr4:8187800-8195000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:8189200-8193600	Enhancers	Stomach Mucosa	stomach
4	chr4:8189600-8193600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:8189600-8199200	Enhancers	HUVEC	blood vessel
6	chr4:8189800-8193600	Enhancers	Left Ventricle	heart
7	chr4:8189800-8193600	Enhancers	Right Ventricle	heart
8	chr4:8189800-8193600	Enhancers	NHLF	lung
9	chr4:8189800-8194000	Enhancers	Primary hematopoietic stem cells	blood
10	chr4:8189800-8194000	Enhancers	Fetal Muscle Leg	muscle
11	chr4:8190000-8193600	Enhancers	Adipose Nuclei	Adipose
12	chr4:8190000-8193600	Enhancers	Esophagus	oesophagus
13	chr4:8190200-8200400	Enhancers	Fetal Thymus	thymus
14	chr4:8190400-8193600	Enhancers	Spleen	Spleen
15	chr4:8190600-8194800	Weak transcription	Colon Smooth Muscle	Colon
16	chr4:8190800-8193800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr4:8191200-8193800	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr4:8191200-8194600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr4:8191400-8193400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr4:8191400-8199800	Weak transcription	Liver	Liver
21	chr4:8191800-8193600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr4:8191800-8193600	Enhancers	GM12878-XiMat	blood
23	chr4:8191800-8194600	Weak transcription	Pancreas	Pancrea
24	chr4:8191800-8195400	Weak transcription	Fetal Lung	lung
25	chr4:8191800-8196000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr4:8191800-8200800	Enhancers	Placenta	Placenta
27	chr4:8192000-8194600	Weak transcription	Gastric	stomach
28	chr4:8192000-8194800	Enhancers	Fetal Muscle Trunk	muscle
29	chr4:8192000-8195000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr4:8192000-8195600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr4:8192000-8196400	Weak transcription	Right Atrium	heart
32	chr4:8192200-8193400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr4:8192200-8200400	Weak transcription	Brain Anterior Caudate	brain
34	chr4:8192400-8193600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr4:8192400-8193800	Enhancers	Primary B cells from cord blood	blood
36	chr4:8192400-8194600	Weak transcription	Fetal Heart	heart
37	chr4:8192400-8197600	Weak transcription	Colonic Mucosa	Colon
38	chr4:8192400-8200600	Weak transcription	Brain Substantia Nigra	brain
39	chr4:8192600-8193400	Weak transcription	Stomach Smooth Muscle	stomach
40	chr4:8192600-8193600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr4:8192600-8193600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr4:8192600-8193600	Flanking Active TSS	Hela-S3	cervix
43	chr4:8192600-8193600	Enhancers	HMEC	breast
44	chr4:8192600-8193600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr4:8192600-8193600	Enhancers	NH-A	brain
46	chr4:8192600-8193600	Enhancers	NHEK	skin
47	chr4:8192600-8193600	Enhancers	Osteobl	bone
48	chr4:8192800-8193400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr4:8192800-8193400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr4:8192800-8193400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood

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