Variant report

Variant	rs56933148
Chromosome Location	chr1:184426798-184426799
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	chr1:184353248..184356115-chr1:184426699..184428547,2	MCF-7	breast:
2	chr1:184426693..184429213-chr1:184435487..184437284,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000271387	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs16823226	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35719021	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58373918	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74131681	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74131686	0.81[AFR][1000 genomes]
rs74131688	0.89[AMR][1000 genomes];1.00[EUR][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	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv2756618	chr1:184393343-184674343	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184396400-184430000	Weak transcription	Spleen	Spleen
2	chr1:184412800-184430200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr1:184413000-184429600	Weak transcription	Brain Angular Gyrus	brain
4	chr1:184413200-184430000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr1:184419200-184438400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:184419600-184426800	Weak transcription	NHEK	skin
7	chr1:184419600-184428800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:184419600-184428800	Weak transcription	Right Ventricle	heart
9	chr1:184419600-184432600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:184419800-184426800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:184421400-184427400	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr1:184421400-184433000	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr1:184421800-184426800	Weak transcription	Pancreas	Pancrea
14	chr1:184422000-184427800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr1:184422600-184426800	Weak transcription	Duodenum Mucosa	Duodenum
16	chr1:184423000-184428200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:184423000-184431200	Weak transcription	Fetal Intestine Small	intestine
18	chr1:184423200-184426800	Weak transcription	Stomach Mucosa	stomach
19	chr1:184423200-184427400	Enhancers	Psoas Muscle	Psoas
20	chr1:184423800-184426800	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr1:184424000-184430200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr1:184424000-184436400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr1:184424400-184428600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:184424400-184428800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr1:184424400-184429000	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr1:184424400-184430000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr1:184424800-184426800	Weak transcription	Small Intestine	intestine
28	chr1:184424800-184428600	Enhancers	Fetal Heart	heart
29	chr1:184424800-184429200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr1:184425400-184426800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr1:184425400-184428800	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr1:184425400-184442200	Weak transcription	Primary hematopoietic stem cells	blood
33	chr1:184425600-184427200	Enhancers	Fetal Brain Male	brain
34	chr1:184425600-184428800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr1:184425600-184430000	Weak transcription	Adipose Nuclei	Adipose
36	chr1:184425600-184430000	Weak transcription	Ovary	ovary
37	chr1:184425600-184430000	Weak transcription	Stomach Smooth Muscle	stomach
38	chr1:184425800-184426800	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr1:184425800-184426800	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr1:184425800-184430200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr1:184426000-184427000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr1:184426000-184430200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr1:184426200-184427000	Weak transcription	Fetal Brain Female	brain
44	chr1:184426200-184427200	Weak transcription	Colon Smooth Muscle	Colon
45	chr1:184426400-184427400	Enhancers	Fetal Muscle Leg	muscle
46	chr1:184426400-184427400	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr1:184426400-184428600	Enhancers	Fetal Lung	lung
48	chr1:184426600-184426800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr1:184426600-184426800	Enhancers	Fetal Stomach	stomach
50	chr1:184426600-184426800	Enhancers	Left Ventricle	heart

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