Variant report

Variant	rs4544703
Chromosome Location	chr4:85838158-85838159
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:85824461..85826915-chr4:85836524..85838821,2	MCF-7	breast:
2	chr4:85834967..85837152-chr4:85837989..85839589,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10516726	0.92[EUR][1000 genomes]
rs10516728	0.92[EUR][1000 genomes]
rs10516729	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10516733	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10516734	0.91[ASN][1000 genomes]
rs11726635	0.83[AMR][1000 genomes]
rs11737191	0.94[ASN][1000 genomes]
rs11936391	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11936719	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11947757	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17009245	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3747681	0.92[EUR][1000 genomes]
rs7692204	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[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	esv1829655	chr4:85577491-86292692	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv427684	chr4:85668487-85863446	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv519588	chr4:85762385-86591202	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv879515	chr4:85789940-85843244	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv508295	chr4:85822802-85885027	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:85781800-85848600	Weak transcription	Stomach Smooth Muscle	stomach
2	chr4:85798800-85873200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr4:85799600-85841600	Weak transcription	HMEC	breast
4	chr4:85801400-85843800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr4:85809000-85872800	Weak transcription	A549	lung
6	chr4:85811800-85851200	Weak transcription	Esophagus	oesophagus
7	chr4:85812800-85843600	Weak transcription	HepG2	liver
8	chr4:85813000-85858800	Weak transcription	Duodenum Mucosa	Duodenum
9	chr4:85816000-85852400	Weak transcription	Left Ventricle	heart
10	chr4:85816800-85841600	Weak transcription	NH-A	brain
11	chr4:85821600-85858400	Weak transcription	Pancreas	Pancrea
12	chr4:85822600-85839800	Weak transcription	Fetal Brain Male	brain
13	chr4:85822600-85844800	Weak transcription	Placenta	Placenta
14	chr4:85825400-85840200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr4:85825400-85841600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:85825400-85848600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr4:85825400-85848600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr4:85825600-85848800	Weak transcription	Fetal Muscle Trunk	muscle
19	chr4:85825600-85849000	Weak transcription	Fetal Intestine Large	intestine
20	chr4:85825600-85849000	Weak transcription	Fetal Muscle Leg	muscle
21	chr4:85826200-85845400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr4:85826400-85849200	Weak transcription	Fetal Stomach	stomach
23	chr4:85827200-85848800	Weak transcription	Ovary	ovary
24	chr4:85829200-85850000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr4:85829200-85866200	Weak transcription	Spleen	Spleen
26	chr4:85834600-85845600	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr4:85835000-85848400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr4:85835200-85840200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr4:85835200-85841200	Weak transcription	NHEK	skin
30	chr4:85835200-85848400	Weak transcription	Fetal Lung	lung
31	chr4:85835400-85841600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr4:85835800-85838400	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr4:85835800-85839600	Enhancers	Brain Angular Gyrus	brain
34	chr4:85835800-85839800	Enhancers	Brain Hippocampus Middle	brain
35	chr4:85835800-85839800	Enhancers	Colon Smooth Muscle	Colon
36	chr4:85835800-85843600	Weak transcription	Fetal Intestine Small	intestine
37	chr4:85836000-85839800	Enhancers	Brain Substantia Nigra	brain
38	chr4:85836000-85839800	Enhancers	HUVEC	blood vessel
39	chr4:85836000-85840000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr4:85836200-85838600	Enhancers	Adipose Nuclei	Adipose
41	chr4:85836200-85839200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr4:85836200-85839800	Enhancers	Osteobl	bone
43	chr4:85836400-85838400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr4:85836400-85838400	Enhancers	Fetal Heart	heart
45	chr4:85836400-85839800	Enhancers	NHDF-Ad	bronchial
46	chr4:85836600-85839400	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr4:85836600-85839600	Enhancers	Brain Cingulate Gyrus	brain
48	chr4:85836800-85838400	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr4:85836800-85838600	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr4:85836800-85838600	Enhancers	Liver	Liver

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