Variant report

Variant	rs72970039
Chromosome Location	chr1:75202017-75202018
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:75197640..75200637-chr1:75200867..75204722,5	MCF-7	breast:
2	chr1:75197578..75200968-chr1:75201632..75206969,6	MCF-7	breast:
3	chr1:75200664..75203474-chr1:76250808..76253106,2	K562	blood:

Variant related genes	Relation type
ENSG00000162623	Chromatin interaction
ENSG00000137955	Chromatin interaction
ENSG00000206620	Chromatin interaction
ENSG00000116791	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11538281	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17095826	1.00[EUR][1000 genomes]
rs17095828	1.00[EUR][1000 genomes]
rs17095873	1.00[EUR][1000 genomes]
rs28557039	0.84[AFR][1000 genomes]
rs41532045	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56801414	1.00[EUR][1000 genomes]
rs56984812	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57299160	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57396966	0.81[AFR][1000 genomes]
rs57413593	1.00[EUR][1000 genomes]
rs57891038	1.00[EUR][1000 genomes]
rs58387974	1.00[EUR][1000 genomes]
rs60099743	1.00[EUR][1000 genomes]
rs60307267	1.00[EUR][1000 genomes]
rs60486335	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61543507	0.81[AFR][1000 genomes]
rs61741065	0.86[AFR][1000 genomes]
rs6702642	1.00[EUR][1000 genomes]
rs72968192	1.00[EUR][1000 genomes]
rs72968194	1.00[EUR][1000 genomes]
rs72970024	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72970030	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72970040	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72970042	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72970049	0.92[AFR][1000 genomes]
rs72973608	0.94[AFR][1000 genomes]
rs72973615	0.94[AFR][1000 genomes]
rs72973623	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72973628	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72973630	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72973632	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72973658	1.00[EUR][1000 genomes]
rs74093752	1.00[EUR][1000 genomes]
rs74095148	1.00[EUR][1000 genomes]
rs74095166	1.00[EUR][1000 genomes]
rs74095169	0.88[AFR][1000 genomes]
rs74095179	1.00[EUR][1000 genomes]
rs74095180	1.00[EUR][1000 genomes]
rs74095181	1.00[EUR][1000 genomes]
rs74095182	1.00[EUR][1000 genomes]
rs74095183	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011745	chr1:74730942-75477618	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv535003	chr1:74730942-75477618	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv830259	chr1:75089177-75241062	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv1851105	chr1:75152186-75302921	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:75199200-75203000	Weak transcription	Spleen	Spleen
2	chr1:75199400-75203000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:75199400-75203000	Weak transcription	Lung	lung
4	chr1:75199400-75203400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:75199400-75203800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:75199600-75203000	Weak transcription	Left Ventricle	heart
7	chr1:75199600-75203000	Weak transcription	Pancreas	Pancrea
8	chr1:75199600-75203200	Weak transcription	Esophagus	oesophagus
9	chr1:75199600-75203200	Weak transcription	Gastric	stomach
10	chr1:75199600-75206000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:75199800-75207800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:75200000-75202400	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr1:75200000-75202800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:75200000-75202800	Weak transcription	Fetal Muscle Trunk	muscle
15	chr1:75200000-75202800	Weak transcription	Placenta	Placenta
16	chr1:75200000-75203000	Weak transcription	Thymus	Thymus
17	chr1:75200000-75203200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr1:75200000-75231600	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr1:75200200-75202400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:75200200-75202400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr1:75200200-75202400	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr1:75200200-75202400	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr1:75200200-75202400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr1:75200200-75202400	Weak transcription	Fetal Intestine Large	intestine
25	chr1:75200200-75202400	Weak transcription	HSMMtube	muscle
26	chr1:75200200-75202600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr1:75200200-75202800	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr1:75200200-75202800	Weak transcription	Fetal Brain Male	brain
29	chr1:75200200-75202800	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr1:75200200-75203000	Weak transcription	Brain Germinal Matrix	brain
31	chr1:75200200-75203000	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr1:75200200-75203000	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr1:75200200-75203200	Weak transcription	Aorta	Aorta
34	chr1:75200200-75203200	Weak transcription	Fetal Intestine Small	intestine
35	chr1:75200200-75203400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr1:75200200-75205200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr1:75200200-75217600	Weak transcription	Stomach Mucosa	stomach
38	chr1:75200400-75202200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr1:75200400-75202400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr1:75200400-75202400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr1:75200400-75202400	Weak transcription	Brain Substantia Nigra	brain
42	chr1:75200400-75202400	Weak transcription	Fetal Thymus	thymus
43	chr1:75200400-75202600	Weak transcription	Primary B cells from peripheral blood	blood
44	chr1:75200400-75202600	Weak transcription	A549	lung
45	chr1:75200400-75202600	Weak transcription	NHDF-Ad	bronchial
46	chr1:75200400-75202800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr1:75200400-75202800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr1:75200400-75202800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr1:75200400-75202800	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr1:75200400-75202800	Weak transcription	Rectal Smooth Muscle	rectum

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