Variant report

Variant	rs72864196
Chromosome Location	chr1:10278758-10278759
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:10278325..10279914-chr1:10289402..10290960,2	K562	blood:
2	chr1:10272332..10273838-chr1:10278117..10280308,2	K562	blood:
3	chr1:10269360..10271630-chr1:10278085..10280674,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000054523	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10492970	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17034591	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17034601	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17034615	0.88[ASN][1000 genomes]
rs17034616	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17034627	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17034655	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17034660	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17034716	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17034766	0.90[EUR][1000 genomes]
rs2297881	0.85[EUR][1000 genomes]
rs3819096	0.90[EUR][1000 genomes]
rs41258245	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4329521	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57661717	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59211028	0.90[EUR][1000 genomes]
rs61508659	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72864185	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs72864187	0.91[ASN][1000 genomes]
rs72864188	0.87[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs72864193	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72865913	0.88[ASN][1000 genomes]
rs72865916	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72865925	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72865926	0.88[ASN][1000 genomes]
rs72865927	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72865941	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72865946	0.82[ASN][1000 genomes]
rs72865961	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72865963	0.90[EUR][1000 genomes]
rs72865999	0.90[EUR][1000 genomes]
rs72867431	0.81[EUR][1000 genomes]
rs72867433	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757722	chr1:10238070-10582554	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv2758920	chr1:10238070-10582554	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv999251	chr1:10276263-10318163	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10272600-10284000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr1:10272600-10284000	Weak transcription	Fetal Intestine Small	intestine
3	chr1:10272600-10368200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:10272800-10284000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:10272800-10284400	Weak transcription	Gastric	stomach
6	chr1:10272800-10290000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:10272800-10296600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr1:10274000-10282400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:10274000-10285200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr1:10274200-10284600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr1:10274600-10281200	Weak transcription	Fetal Muscle Trunk	muscle
12	chr1:10275600-10278800	Enhancers	Left Ventricle	heart
13	chr1:10275600-10279000	Enhancers	Liver	Liver
14	chr1:10275800-10278800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:10275800-10278800	Enhancers	Rectal Smooth Muscle	rectum
16	chr1:10276200-10278800	Enhancers	Right Atrium	heart
17	chr1:10276200-10278800	Enhancers	NHDF-Ad	bronchial
18	chr1:10276200-10279000	Enhancers	Osteobl	bone
19	chr1:10276400-10278800	Enhancers	Brain Angular Gyrus	brain
20	chr1:10276400-10278800	Enhancers	Fetal Muscle Leg	muscle
21	chr1:10276600-10278800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:10276600-10281800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr1:10276800-10279000	Enhancers	Brain Anterior Caudate	brain
24	chr1:10276800-10279200	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr1:10276800-10279800	Enhancers	Brain Cingulate Gyrus	brain
26	chr1:10276800-10280000	Enhancers	Brain Substantia Nigra	brain
27	chr1:10276800-10311800	Weak transcription	Hela-S3	cervix
28	chr1:10277000-10279800	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr1:10277000-10322000	Weak transcription	Spleen	Spleen
30	chr1:10277400-10278800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr1:10277600-10278800	Enhancers	HepG2	liver
32	chr1:10277800-10278800	Enhancers	Fetal Lung	lung
33	chr1:10278200-10285000	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr1:10278200-10285200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr1:10278400-10278800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr1:10278400-10278800	Weak transcription	Stomach Mucosa	stomach
37	chr1:10278400-10279000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr1:10278400-10279000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr1:10278400-10279000	Enhancers	Muscle Satellite Cultured Cells	--
40	chr1:10278400-10279000	Enhancers	Adipose Nuclei	Adipose
41	chr1:10278400-10279000	Enhancers	Brain Germinal Matrix	brain
42	chr1:10278400-10279200	Enhancers	Colon Smooth Muscle	Colon
43	chr1:10278400-10280600	Weak transcription	Ovary	ovary
44	chr1:10278400-10280600	Weak transcription	Right Ventricle	heart
45	chr1:10278400-10280800	Weak transcription	Lung	lung
46	chr1:10278400-10281200	Enhancers	Brain Hippocampus Middle	brain
47	chr1:10278400-10281600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:10278400-10282400	Weak transcription	Fetal Brain Female	brain
49	chr1:10278400-10283800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr1:10278400-10284400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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