Variant report

Variant	rs72967332
Chromosome Location	chr1:94280750-94280751
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:94279426..94281422-chr1:94311178..94313738,2	K562	blood:
2	chr1:94279623..94281366-chr1:94292858..94294814,2	MCF-7	breast:
3	chr1:94145260..94147356-chr1:94280674..94282798,2	MCF-7	breast:
4	chr1:94280000..94282465-chr1:94282888..94285001,2	K562	blood:
5	chr1:94096488..94097857-chr1:94279258..94281095,8	MCF-7	breast:
6	chr1:94279220..94281682-chr1:94312143..94314528,3	K562	blood:

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

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10874804	1.00[ASN][1000 genomes]
rs10874805	1.00[ASN][1000 genomes]
rs11165011	0.86[EUR][1000 genomes]
rs11165027	1.00[ASN][1000 genomes]
rs11165028	1.00[ASN][1000 genomes]
rs11165029	1.00[ASN][1000 genomes]
rs11165032	1.00[ASN][1000 genomes]
rs11805379	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11808380	1.00[ASN][1000 genomes]
rs12059028	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12062272	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12062925	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12069476	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12076074	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12078134	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12080386	1.00[ASN][1000 genomes]
rs12081399	1.00[ASN][1000 genomes]
rs12090038	1.00[ASN][1000 genomes]
rs12090230	1.00[ASN][1000 genomes]
rs12094966	1.00[ASN][1000 genomes]
rs17110374	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17110608	1.00[ASN][1000 genomes]
rs2234729	1.00[ASN][1000 genomes]
rs4075342	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41292667	1.00[ASN][1000 genomes]
rs41292669	1.00[ASN][1000 genomes]
rs41292671	1.00[ASN][1000 genomes]
rs41292673	1.00[ASN][1000 genomes]
rs4542218	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57136451	1.00[ASN][1000 genomes]
rs58790885	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59444123	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59545065	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60057678	0.86[EUR][1000 genomes]
rs61750895	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6541397	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6680755	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6686765	1.00[ASN][1000 genomes]
rs6692306	1.00[ASN][1000 genomes]
rs6701957	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6702045	1.00[ASN][1000 genomes]
rs6702064	1.00[ASN][1000 genomes]
rs6704348	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72965451	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72967387	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72969374	1.00[ASN][1000 genomes]
rs7514067	1.00[ASN][1000 genomes]
rs7515991	1.00[ASN][1000 genomes]
rs7525516	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7552401	1.00[ASN][1000 genomes]
rs7555872	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv546822	chr1:94246577-94289863	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	esv1815663	chr1:94246577-94291252	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1877	chr1:94247756-94292908	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv508415	chr1:94256122-94305339	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	esv1802380	chr1:94272119-94291252	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	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

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94273600-94282800	Weak transcription	Lung	lung
2	chr1:94275400-94281400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:94275800-94282400	Enhancers	Muscle Satellite Cultured Cells	--
4	chr1:94275800-94284200	Enhancers	Hela-S3	cervix
5	chr1:94275800-94285000	Enhancers	HMEC	breast
6	chr1:94276000-94281400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:94276000-94283600	Enhancers	HSMM	muscle
8	chr1:94276000-94285200	Enhancers	Placenta	Placenta
9	chr1:94276800-94283800	Enhancers	NHEK	skin
10	chr1:94277000-94282400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:94277000-94284400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:94277000-94285000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:94277200-94282600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:94277600-94284600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:94277800-94282600	Weak transcription	Fetal Stomach	stomach
16	chr1:94278200-94281600	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr1:94278200-94282600	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr1:94278200-94282800	Weak transcription	Right Ventricle	heart
19	chr1:94278400-94280800	Enhancers	A549	lung
20	chr1:94278600-94281800	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr1:94278600-94283200	Enhancers	Osteobl	bone
22	chr1:94278600-94284000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:94278800-94282000	Enhancers	Placenta Amnion	Placenta Amnion
24	chr1:94278800-94282600	Weak transcription	Left Ventricle	heart
25	chr1:94279000-94281400	Enhancers	Fetal Lung	lung
26	chr1:94279200-94281400	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr1:94279200-94281600	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr1:94279200-94281800	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr1:94279400-94280800	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr1:94279400-94281800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:94279400-94282400	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr1:94279400-94282800	Weak transcription	Duodenum Mucosa	Duodenum
33	chr1:94279400-94284400	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr1:94279600-94280800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr1:94279600-94281200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr1:94279600-94281600	Enhancers	Fetal Kidney	kidney
37	chr1:94279600-94282400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr1:94279600-94282400	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr1:94279600-94282400	Weak transcription	Fetal Intestine Small	intestine
40	chr1:94279600-94282400	Weak transcription	NHDF-Ad	bronchial
41	chr1:94279600-94282600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:94279600-94302800	Weak transcription	Stomach Smooth Muscle	stomach
43	chr1:94279800-94281000	Enhancers	Fetal Muscle Leg	muscle
44	chr1:94279800-94281400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr1:94279800-94281600	Enhancers	H1 Cell Line	embryonic stem cell
46	chr1:94279800-94282400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr1:94279800-94282400	Weak transcription	HepG2	liver
48	chr1:94279800-94282600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr1:94279800-94282600	Weak transcription	NHLF	lung
50	chr1:94279800-94284400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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