Variant report

Variant	rs1554596
Chromosome Location	chr1:85876894-85876895
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	chr1:85872823..85874492-chr1:85874813..85877121,2	MCF-7	breast:
2	chr1:85875979..85878822-chr1:85889098..85890895,2	K562	blood:

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

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

rs_ID	r²[population]
rs11161568	1.00[EUR][1000 genomes]
rs1403952	1.00[EUR][1000 genomes]
rs58278399	1.00[EUR][1000 genomes]
rs59078755	1.00[EUR][1000 genomes]
rs61753571	1.00[EUR][1000 genomes]
rs61753572	1.00[EUR][1000 genomes]
rs6656799	1.00[EUR][1000 genomes]
rs72952681	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv830470	chr1:85820775-86014080	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1008877	chr1:85843238-85897570	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85871400-85878400	Weak transcription	Fetal Muscle Leg	muscle
2	chr1:85871800-85877000	Weak transcription	Ovary	ovary
3	chr1:85872000-85877200	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr1:85873200-85879600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr1:85873400-85882800	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr1:85873600-85885000	Weak transcription	Fetal Intestine Large	intestine
7	chr1:85873800-85882000	Weak transcription	Fetal Intestine Small	intestine
8	chr1:85873800-85885400	Weak transcription	Fetal Stomach	stomach
9	chr1:85873800-85887600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:85874000-85877000	Weak transcription	NHDF-Ad	bronchial
11	chr1:85874000-85877400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:85874000-85878000	Weak transcription	Stomach Mucosa	stomach
13	chr1:85874000-85903800	Weak transcription	NHLF	lung
14	chr1:85874200-85903600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr1:85874400-85877000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:85874400-85903600	Weak transcription	HepG2	liver
17	chr1:85874400-85904200	Weak transcription	NH-A	brain
18	chr1:85874600-85877200	Weak transcription	Aorta	Aorta
19	chr1:85874800-85877000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:85875000-85877000	Weak transcription	HUVEC	blood vessel
21	chr1:85875000-85882800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:85875200-85877400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:85875400-85877200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr1:85875400-85877400	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr1:85875400-85878800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr1:85875400-85880000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr1:85875400-85885600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr1:85876000-85877000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:85876000-85877200	Weak transcription	Pancreas	Pancrea
30	chr1:85876600-85877200	Enhancers	H1 Cell Line	embryonic stem cell
31	chr1:85876600-85877400	Enhancers	H9 Cell Line	embryonic stem cell
32	chr1:85876600-85877400	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr1:85876600-85877600	Enhancers	HSMMtube	muscle
34	chr1:85876600-85877800	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr1:85876600-85878000	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr1:85876600-85878200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr1:85876800-85878200	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr1:85876800-85878400	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr1:85876800-85878400	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr1:85876800-85878400	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr1:85876800-85878400	Genic enhancers	Osteobl	bone
42	chr1:85876800-85880000	Strong transcription	HSMM	muscle

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