Variant report

Variant	rs564760609
Chromosome Location	chr2:33547501-33547502
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:33546250..33548887-chr2:33557480..33559960,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000252246	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv873791	chr2:33489975-33586776	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv1012967	chr2:33533340-33638312	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv535627	chr2:33533340-33638312	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv963908	chr2:33547438-33552765	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33523800-33550600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:33529800-33561000	Weak transcription	HUVEC	blood vessel
3	chr2:33529800-33609400	Weak transcription	Right Ventricle	heart
4	chr2:33540800-33580800	Weak transcription	Placenta	Placenta
5	chr2:33542000-33572200	Weak transcription	Liver	Liver
6	chr2:33544800-33548400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr2:33545000-33547600	Enhancers	Fetal Heart	heart
8	chr2:33545200-33549600	Weak transcription	Brain Substantia Nigra	brain
9	chr2:33545400-33547800	Enhancers	Adipose Nuclei	Adipose
10	chr2:33545400-33548400	Enhancers	Fetal Stomach	stomach
11	chr2:33545400-33551800	Weak transcription	Right Atrium	heart
12	chr2:33545600-33547600	Enhancers	Fetal Muscle Leg	muscle
13	chr2:33545600-33547800	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr2:33545600-33547800	Enhancers	HSMMtube	muscle
15	chr2:33545600-33548200	Enhancers	NHLF	lung
16	chr2:33545800-33547800	Enhancers	Fetal Lung	lung
17	chr2:33545800-33548200	Enhancers	Colon Smooth Muscle	Colon
18	chr2:33545800-33548200	Enhancers	Rectal Smooth Muscle	rectum
19	chr2:33545800-33548400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr2:33545800-33549200	Enhancers	Dnd41	blood
21	chr2:33546200-33548400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr2:33546400-33547600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:33546400-33547800	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr2:33546400-33547800	Enhancers	HSMM	muscle
25	chr2:33546600-33547600	Enhancers	Muscle Satellite Cultured Cells	--
26	chr2:33546600-33548000	Enhancers	Stomach Smooth Muscle	stomach
27	chr2:33546600-33548200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr2:33546800-33547600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:33546800-33547600	Enhancers	GM12878-XiMat	blood
30	chr2:33546800-33548000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:33546800-33549800	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr2:33547000-33547600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:33547000-33547600	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr2:33547000-33547800	Enhancers	Brain Angular Gyrus	brain
35	chr2:33547000-33548000	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr2:33547000-33549000	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr2:33547200-33547600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:33547200-33547600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr2:33547200-33547600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr2:33547200-33547600	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr2:33547200-33547800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr2:33547200-33547800	Enhancers	Brain Cingulate Gyrus	brain
43	chr2:33547200-33547800	Enhancers	Duodenum Mucosa	Duodenum
44	chr2:33547200-33547800	Enhancers	Pancreatic Islets	Pancreatic Islet
45	chr2:33547200-33548000	Flanking Active TSS	NHDF-Ad	bronchial
46	chr2:33547200-33548200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr2:33547200-33567200	Weak transcription	NH-A	brain
48	chr2:33547400-33547600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr2:33547400-33547600	Enhancers	Fetal Intestine Small	intestine
50	chr2:33547400-33547600	Enhancers	Osteobl	bone

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