Variant report

Variant	rs568073611
Chromosome Location	chr3:49505730-49505731
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	chr3:49505441..49508480-chr3:49710122..49713377,5	MCF-7	breast:
2	chr3:49501861..49505109-chr3:49505439..49508808,5	K562	blood:

Variant related genes	Relation type
ENSG00000164062	Chromatin interaction
ENSG00000201301	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	nsv834687	chr3:49448632-49631788	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv3420339	chr3:49505548-49510046	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49490600-49506600	Enhancers	Fetal Muscle Leg	muscle
2	chr3:49491800-49506200	Enhancers	Placenta	Placenta
3	chr3:49497400-49506400	Weak transcription	Brain Germinal Matrix	brain
4	chr3:49498000-49506000	Weak transcription	Fetal Stomach	stomach
5	chr3:49499600-49506600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr3:49500000-49506200	Weak transcription	Adipose Nuclei	Adipose
7	chr3:49500000-49506400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr3:49500000-49506400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr3:49500000-49506400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr3:49500000-49506400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr3:49500000-49506400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr3:49500000-49506400	Weak transcription	Psoas Muscle	Psoas
13	chr3:49500000-49506400	Weak transcription	NH-A	brain
14	chr3:49500000-49506400	Weak transcription	NHDF-Ad	bronchial
15	chr3:49500000-49506600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr3:49501400-49506600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr3:49502200-49506600	Enhancers	Fetal Muscle Trunk	muscle
18	chr3:49502400-49506400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr3:49502600-49506800	Enhancers	Fetal Heart	heart
20	chr3:49503000-49506600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr3:49503400-49505800	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr3:49503400-49506000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr3:49503400-49506200	Weak transcription	A549	lung
24	chr3:49503400-49506400	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr3:49503400-49506400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr3:49503400-49506400	Weak transcription	Colonic Mucosa	Colon
27	chr3:49503400-49506400	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr3:49503600-49505800	Weak transcription	Right Ventricle	heart
29	chr3:49503600-49505800	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr3:49503600-49506000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr3:49503600-49506000	Enhancers	Hela-S3	cervix
32	chr3:49503600-49506400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr3:49503600-49506400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr3:49503600-49506400	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr3:49503600-49506400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr3:49503600-49506400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr3:49503600-49506400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr3:49503600-49506400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr3:49503600-49506400	Weak transcription	Brain Anterior Caudate	brain
40	chr3:49503600-49506400	Weak transcription	Fetal Intestine Large	intestine
41	chr3:49503600-49506400	Weak transcription	HSMM	muscle
42	chr3:49503600-49506400	Weak transcription	NHEK	skin
43	chr3:49503600-49506600	Weak transcription	Primary hematopoietic stem cells	blood
44	chr3:49503600-49506600	Weak transcription	Brain Angular Gyrus	brain
45	chr3:49503600-49507200	Weak transcription	Spleen	Spleen
46	chr3:49503800-49505800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr3:49503800-49505800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr3:49503800-49505800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr3:49503800-49506400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr3:49503800-49506400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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