Variant report

Variant	rs72816195
Chromosome Location	chr2:74224478-74224479
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:57914589..57917529-chr2:74223236..74226145,2	MCF-7	breast:
2	chr2:74224410..74225996-chr2:74475910..74478077,2	MCF-7	breast:
3	chr2:74221747..74224676-chr2:74425256..74427914,2	K562	blood:

Variant related genes	Relation type
ENSG00000188687	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000065911	Chromatin interaction

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

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

rs_ID	r²[population]
rs4384817	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72816197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][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	nsv1011177	chr2:74167343-74239905	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	esv3584956	chr2:74197109-74317135	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74215600-74224800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr2:74215800-74224600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:74215800-74225000	Weak transcription	Brain Anterior Caudate	brain
4	chr2:74215800-74225400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:74215800-74225600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr2:74215800-74226800	Weak transcription	Colonic Mucosa	Colon
7	chr2:74215800-74226800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr2:74215800-74226800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr2:74215800-74227000	Weak transcription	Right Atrium	heart
10	chr2:74215800-74227400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr2:74215800-74229200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:74216000-74225400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:74216000-74227000	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr2:74216000-74227000	Weak transcription	Small Intestine	intestine
15	chr2:74216400-74226600	Weak transcription	Fetal Heart	heart
16	chr2:74216400-74229200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr2:74216600-74225200	Weak transcription	Fetal Lung	lung
18	chr2:74216600-74226800	Weak transcription	Fetal Kidney	kidney
19	chr2:74216600-74227400	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr2:74216800-74226600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr2:74216800-74226800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr2:74218000-74226800	Weak transcription	Liver	Liver
23	chr2:74219400-74224600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr2:74219400-74224600	Weak transcription	Fetal Intestine Large	intestine
25	chr2:74219400-74226400	Strong transcription	Fetal Intestine Small	intestine
26	chr2:74220600-74225000	Enhancers	K562	blood
27	chr2:74220600-74227400	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr2:74220800-74224800	Strong transcription	Fetal Thymus	thymus
29	chr2:74220800-74226600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:74220800-74226800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr2:74220800-74226800	Weak transcription	Fetal Muscle Trunk	muscle
32	chr2:74220800-74226800	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr2:74220800-74229200	Weak transcription	Primary hematopoietic stem cells	blood
34	chr2:74221000-74226400	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr2:74221000-74226800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr2:74221200-74224800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr2:74221200-74224800	Weak transcription	Placenta	Placenta
38	chr2:74221200-74225400	Weak transcription	Hela-S3	cervix
39	chr2:74221200-74226000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr2:74221200-74226600	Weak transcription	Esophagus	oesophagus
41	chr2:74221200-74226600	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr2:74221200-74226800	Weak transcription	Right Ventricle	heart
43	chr2:74221200-74227000	Weak transcription	Adipose Nuclei	Adipose
44	chr2:74221200-74227000	Weak transcription	NHLF	lung
45	chr2:74221200-74227200	Weak transcription	Gastric	stomach
46	chr2:74221200-74228800	Weak transcription	Psoas Muscle	Psoas
47	chr2:74221400-74224600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr2:74221400-74225400	Weak transcription	Brain Hippocampus Middle	brain
49	chr2:74221400-74226400	Weak transcription	Duodenum Mucosa	Duodenum
50	chr2:74221400-74227200	Weak transcription	HSMMtube	muscle

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