Variant report

Variant	rs373357481
Chromosome Location	chr1:171810963-171810964
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:11969663..11970170-chr1:171810089..171811020,2	HCT-116	colon:

Variant related genes	Relation type
ENSG00000201801	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv831893	chr1:171802450-171985000	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv3325612	chr1:171809554-171812102	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171809800-171811200	Bivalent/Poised TSS	Primary neutrophils fromperipheralblood	blood
2	chr1:171809800-171811200	Active TSS	NHLF	lung
3	chr1:171809800-171811400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr1:171809800-171811400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:171809800-171811400	Active TSS	HSMM	muscle
6	chr1:171809800-171811600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr1:171809800-171811600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:171809800-171811800	Active TSS	Rectal Smooth Muscle	rectum
9	chr1:171809800-171812000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:171809800-171812000	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr1:171809800-171812200	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr1:171809800-171812600	Active TSS	Brain Hippocampus Middle	brain
13	chr1:171809800-171812600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr1:171809800-171813800	Active TSS	Brain Cingulate Gyrus	brain
15	chr1:171810000-171811200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
16	chr1:171810000-171811200	Active TSS	Duodenum Mucosa	Duodenum
17	chr1:171810000-171811200	Active TSS	Sigmoid Colon	Sigmoid Colon
18	chr1:171810000-171811200	Active TSS	Skeletal Muscle Male	skeletal muscle
19	chr1:171810000-171811400	Active TSS	H1 Cell Line	embryonic stem cell
20	chr1:171810000-171811400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr1:171810000-171811400	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr1:171810000-171811400	Active TSS	Colon Smooth Muscle	Colon
23	chr1:171810000-171811400	Active TSS	Fetal Kidney	kidney
24	chr1:171810000-171811400	Active TSS	Ovary	ovary
25	chr1:171810000-171811400	Active TSS	Rectal Mucosa Donor 29	rectum
26	chr1:171810000-171811600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:171810000-171811600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:171810000-171811800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr1:171810000-171811800	Active TSS	Left Ventricle	heart
30	chr1:171810000-171811800	Active TSS	Lung	lung
31	chr1:171810000-171812000	Active TSS	H9 Cell Line	embryonic stem cell
32	chr1:171810000-171812000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr1:171810000-171812000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr1:171810000-171812000	Active TSS	Aorta	Aorta
35	chr1:171810000-171812000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
36	chr1:171810000-171812000	Active TSS	Right Atrium	heart
37	chr1:171810200-171811200	Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr1:171810200-171811200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr1:171810200-171811200	Active TSS	Gastric	stomach
40	chr1:171810200-171811200	Active TSS	Placenta Amnion	Placenta Amnion
41	chr1:171810200-171811200	Active TSS	Rectal Mucosa Donor 31	rectum
42	chr1:171810200-171811200	Active TSS	Right Ventricle	heart
43	chr1:171810200-171811200	Active TSS	Stomach Mucosa	stomach
44	chr1:171810200-171811200	Active TSS	A549	lung
45	chr1:171810200-171811400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr1:171810200-171811400	Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr1:171810200-171811400	Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr1:171810200-171811400	Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr1:171810200-171811400	Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr1:171810200-171811400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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