Variant report

Variant	rs73839518
Chromosome Location	chr4:110971302-110971303
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:110970906..110974111-chr4:111117676..111120910,5	MCF-7	breast:
2	chr4:110970781..110971308-chr4:111132291..111133109,2	K562	blood:
3	chr4:110970036..110972230-chr4:111118255..111121131,3	MCF-7	breast:
4	chr4:110970810..110971311-chr4:111431767..111432274,2	K562	blood:
5	chr4:110971182..110971957-chr4:111132272..111132881,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170522	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11568841	1.00[AMR][1000 genomes]
rs11568877	1.00[AMR][1000 genomes]
rs11568894	1.00[AMR][1000 genomes]
rs11568926	1.00[AMR][1000 genomes]
rs41464250	1.00[AMR][1000 genomes]
rs41482245	1.00[AMR][1000 genomes]
rs41505549	1.00[AMR][1000 genomes]
rs56370719	1.00[AMR][1000 genomes]
rs57656325	1.00[AMR][1000 genomes]
rs60612011	1.00[AMR][1000 genomes]
rs61359801	1.00[AMR][1000 genomes]
rs61539771	1.00[AMR][1000 genomes]
rs73839147	1.00[AMR][1000 genomes]
rs73839149	1.00[AMR][1000 genomes]
rs73839508	1.00[AMR][1000 genomes]
rs73839511	1.00[AMR][1000 genomes]
rs73839513	1.00[AMR][1000 genomes]
rs73839514	1.00[AMR][1000 genomes]
rs73841105	1.00[AMR][1000 genomes]
rs73841109	1.00[AMR][1000 genomes]
rs73841113	1.00[AMR][1000 genomes]
rs73841124	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	nsv869392	chr4:110945459-111235071	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv595145	chr4:110969572-110982248	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110963400-110972600	Weak transcription	Duodenum Mucosa	Duodenum
2	chr4:110963400-110976200	Weak transcription	Fetal Intestine Large	intestine
3	chr4:110963800-110974600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr4:110964600-110971400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr4:110964600-110972000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr4:110964600-110972000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr4:110964600-110972000	Weak transcription	HSMM	muscle
8	chr4:110964600-110972200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr4:110964600-110975200	Weak transcription	Fetal Heart	heart
10	chr4:110964600-110976600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr4:110964600-110976600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr4:110964600-110981000	Weak transcription	Adipose Nuclei	Adipose
13	chr4:110964600-110981800	Weak transcription	Brain Anterior Caudate	brain
14	chr4:110964600-111004000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:110964800-110971400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr4:110964800-110976400	Weak transcription	Fetal Kidney	kidney
17	chr4:110964800-110982800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr4:110965000-110972200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr4:110965000-110974200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr4:110965000-110982000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr4:110965200-110976600	Weak transcription	HSMMtube	muscle
22	chr4:110965200-110986600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr4:110965400-110994200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr4:110965600-110971600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr4:110966000-110971400	Weak transcription	NHLF	lung
26	chr4:110966000-110972600	Weak transcription	NHEK	skin
27	chr4:110966600-110972200	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr4:110966600-110972400	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr4:110966800-110974000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr4:110966800-110982000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr4:110967600-110980000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr4:110967800-110971400	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr4:110967800-110976600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr4:110968000-110971400	Weak transcription	Fetal Stomach	stomach
35	chr4:110968000-110972000	Weak transcription	NH-A	brain
36	chr4:110968000-110976600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr4:110968200-110972000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr4:110968200-110972200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr4:110968200-110972600	Weak transcription	Fetal Brain Female	brain
40	chr4:110968200-110974000	Weak transcription	Fetal Lung	lung
41	chr4:110968200-110976200	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr4:110968200-110976400	Weak transcription	Brain Substantia Nigra	brain
43	chr4:110968200-110976600	Weak transcription	NHDF-Ad	bronchial
44	chr4:110968400-110971400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr4:110968600-110971400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr4:110968600-110972200	Weak transcription	HMEC	breast
47	chr4:110968600-110972400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr4:110968600-110976600	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr4:110968600-110980800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr4:110969200-110972600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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