Variant report

Variant	rs376879993
Chromosome Location	chr1:211751832-211751833
allele	A/G
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 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	chr1:211751583..211753296-chr1:211847712..211850652,2	MCF-7	breast:
4	chr1:211749200..211754595-chr1:211816014..211824648,8	K562	blood:
5	chr1:211750433..211752019-chr1:211835257..211837969,2	K562	blood:
6	chr1:211751822..211752607-chr7:35734035..35734698,2	Hela-S3	cervix:
7	chr1:211429991..211432106-chr1:211750411..211752434,2	MCF-7	breast:
8	chr1:211751146..211751864-chr1:211798100..211799087,3	K562	blood:
9	chr1:211751624..211752576-chr2:27435164..27436057,2	Hela-S3	cervix:
10	chr1:211750794..211754252-chr1:211815868..211819773,4	MCF-7	breast:
11	chr1:211750060..211753695-chr1:211824093..211827463,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000138074	Chromatin interaction
ENSG00000117650	Chromatin interaction
ENSG00000117625	Chromatin interaction
ENSG00000222080	Chromatin interaction
ENSG00000138085	Chromatin interaction
ENSG00000228792	Chromatin interaction
ENSG00000231057	Chromatin interaction
ENSG00000122557	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:44 , 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
31	nsv549128	chr1:211751500-211752747	Active TSS Bivalent/Poised 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
32	esv1801650	chr1:211751500-211753094	Flanking Active TSS 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
33	nsv549129	chr1:211751500-211753094	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
34	nsv549130	chr1:211751603-211753094	Active TSS Flanking Active TSS Enhancers Bivalent/Poised 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
35	nsv549131	chr1:211751706-211752747	Active TSS Bivalent/Poised 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
36	nsv549132	chr1:211751706-211752981	Bivalent/Poised TSS Active TSS Enhancers 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
37	nsv549133	chr1:211751706-211753094	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
38	nsv549134	chr1:211751816-211752981	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
39	esv1793619	chr1:211751816-211753094	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
40	esv1796435	chr1:211751816-211753094	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
41	esv1797360	chr1:211751816-211753094	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
42	esv1800469	chr1:211751816-211753094	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
43	nsv549135	chr1:211751816-211753094	Active TSS Enhancers Flanking Active TSS Bivalent/Poised 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
44	esv1799275	chr1:211751816-211754866	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	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	chr1:211749800-211752000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:211749800-211753000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:211749800-211753000	Active TSS	Fetal Muscle Leg	muscle
35	chr1:211749800-211753200	Active TSS	NHEK	skin
36	chr1:211749800-211753400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr1:211749800-211753400	Active TSS	Fetal Muscle Trunk	muscle
38	chr1:211750000-211752600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr1:211750000-211753000	Active TSS	Muscle Satellite Cultured Cells	--
40	chr1:211750000-211753000	Active TSS	Rectal Mucosa Donor 31	rectum
41	chr1:211750000-211753000	Active TSS	Osteobl	bone
42	chr1:211750000-211753200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:211750000-211753200	Active TSS	HUES64 Cell Line	embryonic stem cell
44	chr1:211750000-211753200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr1:211750000-211753200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr1:211750000-211753200	Active TSS	Liver	Liver
47	chr1:211750000-211753200	Active TSS	Brain Inferior Temporal Lobe	brain
48	chr1:211750000-211753200	Active TSS	Colon Smooth Muscle	Colon
49	chr1:211750000-211753200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
50	chr1:211750000-211753200	Active TSS	HSMM	muscle

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