Variant report

Variant	rs200658025
Chromosome Location	chr1:171457199-171457200
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:171452969..171454844-chr1:171456792..171458676,3	K562	blood:
2	chr1:171454829..171458429-chr1:171468344..171472224,4	MCF-7	breast:
3	chr1:171453426..171457241-chr1:171461305..171463614,3	MCF-7	breast:
4	chr1:171455198..171457522-chr1:171482757..171484309,2	MCF-7	breast:
5	chr1:171454832..171457416-chr1:171532662..171535516,2	MCF-7	breast:
6	chr1:169861616..169864007-chr1:171455760..171457373,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000117523	Chromatin interaction
ENSG00000239373	Chromatin interaction
ENSG00000000457	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	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats 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 miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	esv2230348	chr1:171456967-171457399	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	esv1005262	chr1:171457157-171457199	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	esv2532808	chr1:171457158-171457200	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171453600-171457400	Active TSS	GM12878-XiMat	blood
2	chr1:171453600-171458200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr1:171453800-171457600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:171454000-171457800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:171455400-171457600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:171455600-171458000	Flanking Active TSS	HUVEC	blood vessel
7	chr1:171455600-171458200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
8	chr1:171455600-171461600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:171455800-171457600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:171455800-171457600	Weak transcription	Esophagus	oesophagus
11	chr1:171455800-171459000	Enhancers	Stomach Mucosa	stomach
12	chr1:171455800-171461600	Weak transcription	Gastric	stomach
13	chr1:171455800-171465400	Weak transcription	Lung	lung
14	chr1:171455800-171467800	Weak transcription	Spleen	Spleen
15	chr1:171456000-171457200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
16	chr1:171456000-171457400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr1:171456000-171457400	Flanking Active TSS	NHEK	skin
18	chr1:171456000-171457600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr1:171456000-171459000	Weak transcription	Pancreas	Pancrea
20	chr1:171456000-171481800	Weak transcription	Placenta	Placenta
21	chr1:171456200-171457200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr1:171456200-171457400	Transcr. at gene 5' and 3'	Dnd41	blood
23	chr1:171456200-171457600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr1:171456200-171457800	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr1:171456200-171457800	Enhancers	Rectal Smooth Muscle	rectum
26	chr1:171456200-171458000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:171456200-171458000	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr1:171456200-171458000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr1:171456200-171458000	Enhancers	Placenta Amnion	Placenta Amnion
30	chr1:171456200-171459800	Enhancers	Fetal Heart	heart
31	chr1:171456200-171461600	Weak transcription	Left Ventricle	heart
32	chr1:171456200-171467800	Weak transcription	Fetal Muscle Trunk	muscle
33	chr1:171456200-171475000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:171456400-171457200	Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr1:171456400-171457400	Enhancers	Primary hematopoietic stem cells	blood
36	chr1:171456400-171457400	Weak transcription	Aorta	Aorta
37	chr1:171456400-171457400	Weak transcription	Ovary	ovary
38	chr1:171456400-171457400	Weak transcription	Right Atrium	heart
39	chr1:171456400-171457400	Active TSS	HMEC	breast
40	chr1:171456400-171457400	Enhancers	HSMM	muscle
41	chr1:171456400-171457600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr1:171456400-171457600	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr1:171456400-171457800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr1:171456400-171457800	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr1:171456400-171458000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr1:171456400-171458000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr1:171456400-171458000	Enhancers	Osteobl	bone
48	chr1:171456400-171458200	Enhancers	Brain Cingulate Gyrus	brain
49	chr1:171456400-171458400	Enhancers	Brain Hippocampus Middle	brain
50	chr1:171456400-171458400	Enhancers	Skeletal Muscle Female	skeletal muscle

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