Variant report

Variant	rs369914786
Chromosome Location	chr1:63153010-63153011
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:63152914-63154755	H1-neurons	neurons:	n/a	n/a
2	TBP	chr1:63153008-63154675	K562	blood:	n/a	n/a
3	MAX	chr1:63152958-63154536	HepG2	liver:	n/a	n/a
4	RCOR1	chr1:63152200-63154891	IMR90	lung:	n/a	n/a
5	MAZ	chr1:63152926-63154654	IMR90	lung:	n/a	n/a
6	SIN3AK20	chr1:63152965-63153453	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr1:63152977-63154618	HepG2	liver:	n/a	n/a
8	POLR2A	chr1:63152870-63154627	MCF10A-Er-Src	breast:	n/a	n/a
9	MYBL2	chr1:63152979-63153504	HepG2	liver:	n/a	n/a
10	MXI1	chr1:63152933-63153487	Hela-S3	cervix:	n/a	n/a
11	MXI1	chr1:63152706-63154756	IMR90	lung:	n/a	n/a
12	POLR2A	chr1:63152991-63154806	H1-hESC	embryonic stem cell:	n/a	n/a
13	TAF1	chr1:63152961-63153530	H1-neurons	neurons:	n/a	n/a
14	MAZ	chr1:63152986-63154439	GM12878	blood:	n/a	n/a
15	REST	chr1:63152764-63154855	H1-neurons	neurons:	n/a	chr1:63153977-63153987 chr1:63154116-63154136 chr1:63154134-63154147
16	POLR2A	chr1:63152925-63154594	H1-neurons	neurons:	n/a	n/a
17	MXI1	chr1:63152116-63154856	SK-N-SH	brain:	n/a	n/a
18	POLR2A	chr1:63152959-63153700	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:63151590..63154458-chr1:63248689..63250715,2	K562	blood:
2	chr1:63141617..63143983-chr1:63151351..63153918,2	MCF-7	breast:
3	chr1:63151590..63154458-chr1:63248689..63251365,3	K562	blood:
4	chr1:63146913..63149001-chr1:63152180..63153818,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235545	TF binding region
ENSG00000125703	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014376	chr1:62976472-63181359	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	esv3443740	chr1:63152389-63155337	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
3	esv3437839	chr1:63152564-63156062	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:63151600-63153200	Weak transcription	Esophagus	oesophagus
2	chr1:63151600-63153200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr1:63151600-63153200	Weak transcription	Spleen	Spleen
4	chr1:63151800-63155200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:63152200-63153200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:63152200-63153200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:63152200-63153200	Flanking Active TSS	NHEK	skin
8	chr1:63152200-63153200	Flanking Active TSS	Osteobl	bone
9	chr1:63152200-63154800	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr1:63152200-63155000	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr1:63152200-63155200	Active TSS	NHLF	lung
12	chr1:63152200-63155400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr1:63152400-63153200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:63152400-63153200	Flanking Active TSS	Dnd41	blood
15	chr1:63152400-63153200	Flanking Active TSS	Hela-S3	cervix
16	chr1:63152400-63154400	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr1:63152400-63154800	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr1:63152400-63154800	Active TSS	Fetal Muscle Trunk	muscle
19	chr1:63152400-63154800	Active TSS	Psoas Muscle	Psoas
20	chr1:63152400-63155200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:63152600-63153200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr1:63152600-63153200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr1:63152600-63153200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
24	chr1:63152600-63153200	Flanking Active TSS	Stomach Smooth Muscle	stomach
25	chr1:63152600-63153400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr1:63152600-63153400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr1:63152600-63154600	Active TSS	Fetal Intestine Small	intestine
28	chr1:63152600-63154600	Active TSS	HSMMtube	muscle
29	chr1:63152600-63154800	Active TSS	Fetal Intestine Large	intestine
30	chr1:63152600-63155000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:63152600-63155000	Active TSS	Brain Anterior Caudate	brain
32	chr1:63152600-63155000	Active TSS	Rectal Mucosa Donor 29	rectum
33	chr1:63152600-63155000	Active TSS	NHDF-Ad	bronchial
34	chr1:63152600-63155200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr1:63152600-63155400	Active TSS	Fetal Stomach	stomach
36	chr1:63152600-63155600	Active TSS	Duodenum Mucosa	Duodenum
37	chr1:63152800-63153200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:63152800-63153200	Flanking Active TSS	HUVEC	blood vessel
39	chr1:63152800-63153200	Flanking Active TSS	K562	blood
40	chr1:63152800-63153200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr1:63152800-63153400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
42	chr1:63152800-63153400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr1:63152800-63153400	Flanking Active TSS	Adipose Nuclei	Adipose
44	chr1:63152800-63153400	Flanking Active TSS	Fetal Thymus	thymus
45	chr1:63152800-63153600	Active TSS	Right Atrium	heart
46	chr1:63152800-63154200	Active TSS	Rectal Smooth Muscle	rectum
47	chr1:63152800-63154400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr1:63152800-63154400	Active TSS	Brain Hippocampus Middle	brain
49	chr1:63152800-63154400	Active TSS	Fetal Muscle Leg	muscle
50	chr1:63152800-63154600	Active TSS	Primary T cells from cord blood	blood

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