Variant report

Variant	rs116730493
Chromosome Location	chr1:211751464-211751465
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:211750915..211755112-chr1:211826013..211829699,5	K562	blood:
2	chr1:211750437..211753125-chr1:211823737..211827672,4	MCF-7	breast:
3	chr1:211749200..211754595-chr1:211816014..211824648,8	K562	blood:
4	chr1:211750781..211751639-chr1:211798078..211798633,2	MCF-7	breast:
5	chr1:211750433..211752019-chr1:211835257..211837969,2	K562	blood:
6	chr1:211429991..211432106-chr1:211750411..211752434,2	MCF-7	breast:
7	chr1:211751146..211751864-chr1:211798100..211799087,3	K562	blood:
8	chr1:211750794..211754252-chr1:211815868..211819773,4	MCF-7	breast:
9	chr1:211750060..211753695-chr1:211824093..211827463,4	MCF-7	breast:
10	chr1:211750683..211751727-chr1:211803429..211804168,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000117625	Chromatin interaction
ENSG00000228792	Chromatin interaction
ENSG00000222080	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832514	chr1:211630247-211794963	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv1796467	chr1:211726975-211769893	Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv1840920	chr1:211726975-211769893	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	esv1836726	chr1:211736470-211752981	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv549125	chr1:211750362-211753094	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
6	nsv826542	chr1:211750561-211752995	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
7	esv3374509	chr1:211750979-211753977	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
8	esv16536	chr1:211751180-211753141	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
9	nsv549126	chr1:211751208-211752635	Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
10	esv1811385	chr1:211751208-211752981	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
11	esv1796456	chr1:211751208-211753094	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
12	esv1798024	chr1:211751208-211753094	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
13	esv1800017	chr1:211751208-211753094	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
14	esv1802821	chr1:211751208-211753094	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
15	esv1807720	chr1:211751208-211753094	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
16	esv1811701	chr1:211751208-211753094	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
17	esv1816715	chr1:211751208-211753094	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
18	esv1829710	chr1:211751208-211753094	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
19	esv1833889	chr1:211751208-211753094	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
20	esv1837592	chr1:211751208-211753094	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
21	esv1837831	chr1:211751208-211753094	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
22	esv1838588	chr1:211751208-211753094	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
23	esv1839705	chr1:211751208-211753094	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
24	esv1843477	chr1:211751208-211753094	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
25	esv1847984	chr1:211751208-211753094	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
26	esv1791933	chr1:211751208-211755204	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
27	esv1793880	chr1:211751208-211755204	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
28	esv1795722	chr1:211751290-211753094	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
29	esv3403046	chr1:211751354-211754202	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
30	nsv549127	chr1:211751393-211753094	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211748600-211753200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr1:211749000-211753400	Active TSS	Aorta	Aorta
3	chr1:211749000-211753400	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr1:211749400-211753200	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr1:211749400-211753200	Active TSS	Fetal Stomach	stomach
6	chr1:211749400-211753200	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr1:211749400-211753400	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr1:211749600-211753000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:211749600-211753000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr1:211749600-211753000	Active TSS	GM12878-XiMat	blood
11	chr1:211749600-211753000	Active TSS	HMEC	breast
12	chr1:211749600-211753000	Active TSS	HSMMtube	muscle
13	chr1:211749600-211753000	Active TSS	NH-A	brain
14	chr1:211749600-211753000	Active TSS	NHLF	lung
15	chr1:211749600-211753200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:211749600-211753200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:211749600-211753200	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr1:211749600-211753200	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr1:211749600-211753200	Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr1:211749600-211753200	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr1:211749600-211753200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:211749600-211753200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:211749600-211753200	Active TSS	Duodenum Mucosa	Duodenum
24	chr1:211749600-211753200	Active TSS	Fetal Intestine Large	intestine
25	chr1:211749600-211753200	Active TSS	Fetal Kidney	kidney
26	chr1:211749600-211753200	Active TSS	Rectal Smooth Muscle	rectum
27	chr1:211749600-211753200	Active TSS	A549	lung
28	chr1:211749600-211753200	Active TSS	Hela-S3	cervix
29	chr1:211749600-211753200	Active TSS	K562	blood
30	chr1:211749600-211753200	Active TSS	NHDF-Ad	bronchial
31	chr1:211749600-211753800	Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr1:211749800-211751600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr1:211749800-211752000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr1:211749800-211753000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:211749800-211753000	Active TSS	Fetal Muscle Leg	muscle
36	chr1:211749800-211753200	Active TSS	NHEK	skin
37	chr1:211749800-211753400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr1:211749800-211753400	Active TSS	Fetal Muscle Trunk	muscle
39	chr1:211750000-211752600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
40	chr1:211750000-211753000	Active TSS	Muscle Satellite Cultured Cells	--
41	chr1:211750000-211753000	Active TSS	Rectal Mucosa Donor 31	rectum
42	chr1:211750000-211753000	Active TSS	Osteobl	bone
43	chr1:211750000-211753200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:211750000-211753200	Active TSS	HUES64 Cell Line	embryonic stem cell
45	chr1:211750000-211753200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr1:211750000-211753200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr1:211750000-211753200	Active TSS	Liver	Liver
48	chr1:211750000-211753200	Active TSS	Brain Inferior Temporal Lobe	brain
49	chr1:211750000-211753200	Active TSS	Colon Smooth Muscle	Colon
50	chr1:211750000-211753200	Active TSS	Fetal Adrenal Gland	Adrenal Gland

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