Variant report

Variant	rs572124164
Chromosome Location	chr1:247486604-247486605
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:247479235..247481801-chr1:247485562..247488525,3	K562	blood:
2	chr1:247484997..247486937-chr1:247500462..247503140,2	K562	blood:
3	chr1:247481131..247482896-chr1:247485976..247487995,2	MCF-7	breast:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005208	chr1:247037441-247597975	Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	esv3411043	chr1:247382851-247517729	Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	n/a
3	esv3378684	chr1:247382994-247518438	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	n/a
4	nsv833137	chr1:247437317-247607428	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	n/a
5	esv1848384	chr1:247485654-247495666	Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247456000-247493400	Weak transcription	Right Atrium	heart
2	chr1:247460400-247493400	Strong transcription	Fetal Muscle Leg	muscle
3	chr1:247460800-247491800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:247460800-247493400	Strong transcription	Fetal Muscle Trunk	muscle
5	chr1:247461200-247488200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr1:247461400-247493800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr1:247462800-247488000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:247463000-247493600	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr1:247463200-247493400	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr1:247464800-247493400	Strong transcription	Fetal Stomach	stomach
11	chr1:247465200-247493400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:247467600-247493800	Weak transcription	Stomach Mucosa	stomach
13	chr1:247468400-247494000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr1:247469000-247493600	Weak transcription	Psoas Muscle	Psoas
15	chr1:247469400-247493800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr1:247471800-247493400	Weak transcription	Fetal Heart	heart
17	chr1:247472800-247493400	Weak transcription	Small Intestine	intestine
18	chr1:247474000-247488200	Weak transcription	Gastric	stomach
19	chr1:247476600-247491400	Strong transcription	Dnd41	blood
20	chr1:247476600-247494000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr1:247478400-247486800	Strong transcription	K562	blood
22	chr1:247479600-247487800	Strong transcription	Fetal Lung	lung
23	chr1:247479800-247493000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr1:247480000-247493600	Weak transcription	NHDF-Ad	bronchial
25	chr1:247481800-247487000	Strong transcription	Placenta	Placenta
26	chr1:247482000-247492600	Strong transcription	Liver	Liver
27	chr1:247482200-247488600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr1:247482400-247493600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr1:247482600-247486800	Strong transcription	HSMM	muscle
30	chr1:247482600-247487000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr1:247482600-247493400	Strong transcription	H1 Cell Line	embryonic stem cell
32	chr1:247482600-247493400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:247482800-247486800	Strong transcription	Osteobl	bone
34	chr1:247482800-247487000	Strong transcription	Brain Hippocampus Middle	brain
35	chr1:247482800-247487000	Strong transcription	Duodenum Smooth Muscle	Duodenum
36	chr1:247482800-247487400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr1:247482800-247487400	Strong transcription	Fetal Intestine Large	intestine
38	chr1:247482800-247492400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr1:247482800-247493400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:247482800-247493400	Strong transcription	A549	lung
41	chr1:247482800-247493600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr1:247483000-247486800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr1:247483000-247487000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr1:247483000-247487000	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr1:247483000-247487000	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr1:247483000-247488200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr1:247483000-247488200	Strong transcription	Left Ventricle	heart
48	chr1:247483000-247493200	Strong transcription	Brain Germinal Matrix	brain
49	chr1:247483000-247493200	Strong transcription	Fetal Brain Female	brain
50	chr1:247483200-247488400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain

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