Variant report

Variant	rs72967371
Chromosome Location	chr1:94307104-94307105
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:94306802..94308567-chr1:94311770..94313812,2	MCF-7	breast:
2	chr1:94305920..94308190-chr1:94310212..94314009,5	K562	blood:
3	chr1:94305622..94309090-chr1:94310383..94313235,4	MCF-7	breast:
4	chr1:94290941..94292978-chr1:94306774..94308364,2	K562	blood:

Variant related genes	Relation type
ENSG00000260464	Chromatin interaction
ENSG00000211575	Chromatin interaction
ENSG00000137936	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11165033	0.87[AMR][1000 genomes]
rs12068148	0.87[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	esv1822452	chr1:94278128-94320233	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	121 gene(s)	inside rSNPs	diseases
2	nsv998755	chr1:94294015-94341712	Flanking Active TSS Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	121 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94283400-94310000	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr1:94284200-94311200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr1:94290200-94311400	Weak transcription	Aorta	Aorta
4	chr1:94295400-94310000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:94299000-94308600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:94299400-94310200	Weak transcription	Fetal Muscle Leg	muscle
7	chr1:94300600-94309400	Weak transcription	Dnd41	blood
8	chr1:94300800-94311600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:94301400-94309600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:94302200-94309600	Weak transcription	Placenta	Placenta
11	chr1:94302200-94311200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr1:94302200-94311200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr1:94302800-94309600	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr1:94303200-94309200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr1:94303200-94310200	Weak transcription	Stomach Smooth Muscle	stomach
16	chr1:94303800-94311600	Weak transcription	Gastric	stomach
17	chr1:94304000-94311200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:94304200-94311000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:94304400-94310200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:94305000-94311000	Weak transcription	Left Ventricle	heart
21	chr1:94305400-94309800	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr1:94305600-94308200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:94305600-94310000	Weak transcription	NHEK	skin
24	chr1:94305600-94310600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:94305600-94311000	Weak transcription	HSMMtube	muscle
26	chr1:94305800-94307200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr1:94305800-94307400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr1:94305800-94308000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:94305800-94308000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr1:94305800-94308400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr1:94305800-94309800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr1:94305800-94309800	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr1:94305800-94310400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr1:94305800-94311200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:94306000-94307200	Weak transcription	NHDF-Ad	bronchial
36	chr1:94306000-94308000	Weak transcription	HSMM	muscle
37	chr1:94306000-94309000	Weak transcription	A549	lung
38	chr1:94306000-94309600	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr1:94306000-94309600	Weak transcription	Fetal Stomach	stomach
40	chr1:94306200-94308000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr1:94306200-94308000	Weak transcription	HMEC	breast
42	chr1:94306200-94309600	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr1:94306200-94309800	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr1:94306400-94307200	Weak transcription	Osteobl	bone
45	chr1:94306400-94308000	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr1:94306400-94308000	Weak transcription	NHLF	lung
47	chr1:94306400-94308200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr1:94306400-94309800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr1:94306600-94307200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr1:94306800-94307600	Genic enhancers	Skeletal Muscle Female	skeletal muscle

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