Variant report

Variant	rs74130920
Chromosome Location	chr1:193092191-193092192
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:193025655..193031465-chr1:193087281..193093381,17	MCF-7	breast:
2	chr1:193091690..193093803-chr1:193152706..193155451,2	K562	blood:
3	chr1:193071491..193076891-chr1:193086924..193094906,44	MCF-7	breast:
4	chr1:193091734..193094443-chr1:193102754..193106005,3	MCF-7	breast:
5	chr1:193071213..193080146-chr1:193088491..193094639,51	MCF-7	breast:
6	chr1:192776599..192779563-chr1:193090962..193092551,2	K562	blood:
7	chr1:193020543..193046917-chr1:193069266..193098746,125	K562	blood:
8	chr1:193089186..193093634-chr1:193104182..193110601,11	MCF-7	breast:
9	chr1:193018810..193043703-chr1:193079188..193098601,93	K562	blood:
10	chr1:193025349..193030732-chr1:193089240..193093287,15	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000221680	Chromatin interaction
ENSG00000116747	Chromatin interaction
ENSG00000238754	Chromatin interaction
ENSG00000023572	Chromatin interaction
ENSG00000116750	Chromatin interaction
ENSG00000116741	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16835169	0.83[AMR][1000 genomes]
rs6665739	0.83[AMR][1000 genomes]
rs6665751	0.83[AMR][1000 genomes]
rs74130925	0.83[AMR][1000 genomes]
rs74130929	0.83[AMR][1000 genomes]
rs74130930	0.83[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193087600-193092800	Active TSS	K562	blood
2	chr1:193090000-193092200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr1:193090000-193092400	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr1:193090200-193092200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:193090200-193092200	Active TSS	Fetal Brain Male	brain
6	chr1:193090200-193092400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:193090200-193092400	Active TSS	Fetal Muscle Leg	muscle
8	chr1:193090200-193092400	Active TSS	Psoas Muscle	Psoas
9	chr1:193090200-193092600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:193090200-193092600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:193090200-193092600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:193090200-193092600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:193090200-193092600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr1:193090200-193092600	Active TSS	Osteobl	bone
15	chr1:193090200-193092800	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr1:193090200-193092800	Active TSS	Brain Angular Gyrus	brain
17	chr1:193090200-193092800	Active TSS	Fetal Kidney	kidney
18	chr1:193090200-193092800	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr1:193090200-193092800	Active TSS	Rectal Smooth Muscle	rectum
20	chr1:193090200-193093000	Active TSS	H1 Cell Line	embryonic stem cell
21	chr1:193090200-193093000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:193090200-193093000	Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr1:193090200-193093600	Active TSS	NHDF-Ad	bronchial
24	chr1:193090200-193094000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:193090400-193092200	Active TSS	Duodenum Mucosa	Duodenum
26	chr1:193090400-193092200	Active TSS	Thymus	Thymus
27	chr1:193090400-193092400	Active TSS	Muscle Satellite Cultured Cells	--
28	chr1:193090400-193092400	Active TSS	Aorta	Aorta
29	chr1:193090400-193092400	Active TSS	Brain Cingulate Gyrus	brain
30	chr1:193090400-193092400	Active TSS	Colonic Mucosa	Colon
31	chr1:193090400-193092400	Active TSS	Esophagus	oesophagus
32	chr1:193090400-193092400	Active TSS	Fetal Lung	lung
33	chr1:193090400-193092400	Active TSS	Fetal Muscle Trunk	muscle
34	chr1:193090400-193092400	Active TSS	Placenta	Placenta
35	chr1:193090400-193092400	Active TSS	Left Ventricle	heart
36	chr1:193090400-193092400	Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr1:193090400-193092600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr1:193090400-193092600	Active TSS	H9 Cell Line	embryonic stem cell
39	chr1:193090400-193092600	Active TSS	Colon Smooth Muscle	Colon
40	chr1:193090400-193092600	Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr1:193090400-193092600	Active TSS	Fetal Intestine Large	intestine
42	chr1:193090400-193092600	Active TSS	Rectal Mucosa Donor 29	rectum
43	chr1:193090400-193092600	Active TSS	A549	lung
44	chr1:193090400-193092800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr1:193090400-193092800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr1:193090400-193092800	Active TSS	HSMM	muscle
47	chr1:193090400-193093000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr1:193090400-193093000	Active TSS	Right Ventricle	heart
49	chr1:193090400-193093200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr1:193090400-193093200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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