Variant report

Variant	rs73066727
Chromosome Location	chr2:208881128-208881129
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:208880392..208882988-chr2:208902103..208904120,2	MCF-7	breast:
2	chr2:208877025..208882031-chr2:208889273..208892174,4	K562	blood:

Variant related genes	Relation type
ENSG00000178385	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10176821	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10176955	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10192852	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10200490	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11893075	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11899909	1.00[AMR][1000 genomes]
rs13383276	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13391113	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs730419	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73066744	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73066746	0.97[AFR][1000 genomes];1.00[AMR][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	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv875743	chr2:208688648-208940023	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:208854200-208889400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:208856600-208882000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr2:208857200-208888000	Weak transcription	Fetal Brain Male	brain
4	chr2:208865200-208889000	Weak transcription	Brain Substantia Nigra	brain
5	chr2:208866200-208882400	Weak transcription	Aorta	Aorta
6	chr2:208866400-208882000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr2:208866400-208888200	Weak transcription	Ovary	ovary
8	chr2:208866600-208888200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr2:208866600-208889000	Weak transcription	Fetal Stomach	stomach
10	chr2:208866600-208889600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr2:208866800-208882400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr2:208866800-208884400	Weak transcription	Primary B cells from cord blood	blood
13	chr2:208866800-208885000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr2:208866800-208887200	Weak transcription	Fetal Brain Female	brain
15	chr2:208866800-208888200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr2:208866800-208889400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr2:208867000-208888200	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr2:208867400-208882000	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr2:208867400-208887800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr2:208867400-208889000	Weak transcription	Primary B cells from peripheral blood	blood
21	chr2:208867400-208889200	Weak transcription	Primary T cells from cord blood	blood
22	chr2:208871800-208889000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr2:208871800-208889600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:208872400-208888200	Weak transcription	Brain Hippocampus Middle	brain
25	chr2:208875600-208889000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:208877000-208881400	Enhancers	Fetal Intestine Small	intestine
27	chr2:208877600-208882400	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr2:208877600-208888200	Weak transcription	Psoas Muscle	Psoas
29	chr2:208877800-208882600	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr2:208877800-208888600	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr2:208878600-208887200	Weak transcription	Right Ventricle	heart
32	chr2:208878600-208889600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:208878800-208882400	Weak transcription	Right Atrium	heart
34	chr2:208878800-208887200	Weak transcription	Brain Angular Gyrus	brain
35	chr2:208878800-208888200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr2:208878800-208889000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr2:208879000-208881800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr2:208879000-208882000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr2:208879000-208882400	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr2:208879000-208882400	Weak transcription	Spleen	Spleen
41	chr2:208879000-208884600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr2:208879000-208887200	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr2:208879000-208888000	Weak transcription	Lung	lung
44	chr2:208879000-208888200	Weak transcription	Pancreas	Pancrea
45	chr2:208879000-208888400	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr2:208879000-208889400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr2:208879000-208889400	Weak transcription	Fetal Kidney	kidney
48	chr2:208879200-208881800	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr2:208879200-208882400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr2:208879200-208883200	Weak transcription	Adipose Nuclei	Adipose

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