Variant report

Variant	rs374003973
Chromosome Location	chr1:227498713-227498714
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	chr1:227496685..227499623-chr1:227502057..227508313,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143776	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003656	chr1:227034700-227559665	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv535318	chr1:227034700-227559665	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
4	nsv873242	chr1:227371906-227579344	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv549271	chr1:227411003-227581017	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv1001353	chr1:227474785-227660691	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	esv2565209	chr1:227498365-227499852	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227462600-227500200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:227469200-227500200	Weak transcription	Left Ventricle	heart
3	chr1:227469200-227502600	Weak transcription	HSMM	muscle
4	chr1:227469600-227501800	Weak transcription	Fetal Stomach	stomach
5	chr1:227475000-227502000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr1:227475200-227500200	Weak transcription	Fetal Intestine Small	intestine
7	chr1:227483600-227500200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:227483800-227500400	Weak transcription	Right Atrium	heart
9	chr1:227487000-227500200	Weak transcription	HMEC	breast
10	chr1:227487000-227501800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:227487000-227501800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr1:227487000-227502000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:227487600-227502400	Weak transcription	Osteobl	bone
14	chr1:227487800-227500200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr1:227487800-227500400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:227487800-227501400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:227488000-227501800	Weak transcription	A549	lung
18	chr1:227490200-227503800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr1:227491400-227501400	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr1:227491600-227499200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr1:227492600-227503400	Weak transcription	Fetal Muscle Trunk	muscle
22	chr1:227493200-227499400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:227494200-227500200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:227494400-227500200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:227495000-227500200	Weak transcription	Brain Substantia Nigra	brain
26	chr1:227495000-227503400	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr1:227496200-227500200	Weak transcription	Pancreas	Pancrea
28	chr1:227496200-227502000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr1:227496200-227504800	Weak transcription	Gastric	stomach
30	chr1:227496400-227501200	Enhancers	HUVEC	blood vessel
31	chr1:227496400-227501800	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr1:227496400-227502000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr1:227496600-227498800	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr1:227496600-227499600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:227496800-227499400	Weak transcription	Hela-S3	cervix
36	chr1:227496800-227501800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr1:227496800-227502000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr1:227497000-227501600	Weak transcription	NHDF-Ad	bronchial
39	chr1:227497200-227501800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr1:227497200-227502600	Weak transcription	Fetal Intestine Large	intestine
41	chr1:227497400-227499000	Enhancers	Stomach Mucosa	stomach
42	chr1:227497600-227501000	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr1:227497600-227501800	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr1:227497600-227502000	Weak transcription	Liver	Liver
45	chr1:227497800-227500200	Weak transcription	Ovary	ovary
46	chr1:227497800-227501400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr1:227498000-227499000	Weak transcription	Brain Hippocampus Middle	brain
48	chr1:227498000-227500400	Weak transcription	Colon Smooth Muscle	Colon
49	chr1:227498000-227501800	Weak transcription	Duodenum Mucosa	Duodenum
50	chr1:227498200-227499600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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