Variant report

Variant	rs567851332
Chromosome Location	chr1:10676785-10676786
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:10676746-10676796	GM06990	blood:	n/a
2	chr1:10676746-10676796	HPAEpiC	pulmonary alveolar:	n/a
3	chr1:10676746-10676796	MCF10A-Er-Src	breast:	n/a
4	chr1:10676746-10676796	BE2_C	brain:	n/a
5	chr1:10676746-10676796	HCF	heart:	n/a
6	chr1:10676746-10676796	ovcar-3	ovarian:	n/a
7	chr1:10676746-10676796	HCM	heart:	n/a
8	chr1:10676746-10676796	AG04449	skin:	fetal
9	chr1:10676746-10676796	AG10803	skin:	n/a
10	chr1:10676746-10676796	ECC-1	luminal epithelium:	n/a
11	chr1:10676746-10676796	H1-hESC	embryonic stem cell:	embryo
12	chr1:10676746-10676796	MCF-7	breast:	n/a
13	chr1:10676746-10676796	HNPCEpiC	eye:	n/a
14	chr1:10676746-10676796	SK-N-MC	brain:	n/a
15	chr1:10676746-10676796	PANC-1	pancreas:	n/a
16	chr1:10676746-10676796	Hela-S3	cervix:	n/a
17	chr1:10676746-10676796	CMK	blood:	n/a
18	chr1:10676746-10676796	GM12878	blood:	n/a
19	chr1:10676746-10676796	NHBE	bronchial:	n/a
20	chr1:10676746-10676796	LNCaP	prostate:	n/a
21	chr1:10676746-10676796	GM12891	blood:	n/a
22	chr1:10676746-10676796	HRPEpiC	eye:	n/a
23	chr1:10676746-10676796	RPTEC	kidney:	n/a
24	chr1:10676746-10676796	HAEpiC	amniotic membrane:	n/a
25	chr1:10676746-10676796	NH-A	brain:	n/a
26	chr1:10676746-10676796	SAEC	small airway:	n/a
27	chr1:10676746-10676796	Caco-2	colon:	n/a
28	chr1:10676746-10676796	HCT-116	colon:	n/a
29	chr1:10676746-10676796	GM19239	blood:	n/a
30	chr1:10676746-10676796	HIPEpiC	eye:	n/a
31	chr1:10676746-10676796	HRCEpiC	kidney:	n/a
32	chr1:10676746-10676796	HEK293	kidney:	embryo
33	chr1:10676746-10676796	AG09309	skin:	n/a
34	chr1:10676746-10676796	PrEC	prostate:	n/a
35	chr1:10676746-10676796	T-47D	breast:	n/a
36	chr1:10676746-10676796	Jurkat	blood:	n/a
37	chr1:10676746-10676796	NB4	blood:	n/a
38	chr1:10676746-10676796	K562	blood:	n/a
39	chr1:10676746-10676796	HepG2	liver:	n/a
40	chr1:10676746-10676796	BJ	skin:	n/a
41	chr1:10676746-10676796	SK-N-SH	brain:	n/a
42	chr1:10676746-10676796	HRE	kidney:	n/a
43	chr1:10676746-10676796	IMR90	lung:	fetal
44	chr1:10676746-10676796	NHDF-neo	bronchial:	n/a
45	chr1:10676746-10676796	ProgFib	skin:	n/a
46	chr1:10676746-10676796	HMEC	breast:	n/a
47	chr1:10676746-10676796	HUVEC	blood vessel:	n/a
48	chr1:10676746-10676796	AoSMC	blood vessel:	n/a
49	chr1:10676746-10676796	HCPEpiC	choroid plexus:	n/a
50	chr1:10676746-10676796	SKMC	muscle:	n/a

No data

Variant related genes	Relation type
RN7SL614P	CpG island

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817370	chr1:10305470-10697150	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1008021	chr1:10363794-10802633	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv1010424	chr1:10667559-10747891	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv464394	chr1:10673094-10767902	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv545396	chr1:10673094-10767902	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv1828181	chr1:10673130-10829937	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv464505	chr1:10673194-10767785	Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv545397	chr1:10673194-10767785	Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv464616	chr1:10673194-10767902	Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv545398	chr1:10673194-10767902	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv464727	chr1:10673194-10777260	Bivalent Enhancer ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv545399	chr1:10673194-10777260	Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	nsv1003427	chr1:10675978-10727284	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv1010420	chr1:10675978-10747891	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	nsv1004063	chr1:10675978-10780682	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
16	nsv1014003	chr1:10675978-10788624	Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
17	nsv1014818	chr1:10675978-10846823	Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10632600-10698000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr1:10644200-10683400	Weak transcription	K562	blood
3	chr1:10651600-10715800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr1:10652400-10678400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:10653600-10688600	Weak transcription	Colon Smooth Muscle	Colon
6	chr1:10654800-10691600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr1:10655800-10677200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr1:10656800-10687200	Weak transcription	Small Intestine	intestine
9	chr1:10657600-10683200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr1:10657800-10683600	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr1:10657800-10684200	Weak transcription	Colonic Mucosa	Colon
12	chr1:10658200-10694400	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr1:10658400-10678200	Weak transcription	Ovary	ovary
14	chr1:10658400-10688600	Weak transcription	Fetal Lung	lung
15	chr1:10658400-10691600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:10658600-10678000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr1:10658800-10678400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:10659200-10687800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr1:10659400-10684400	Weak transcription	Dnd41	blood
20	chr1:10659600-10678400	Weak transcription	Placenta	Placenta
21	chr1:10659600-10683800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr1:10659800-10690800	Weak transcription	Primary hematopoietic stem cells	blood
23	chr1:10660000-10682000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:10660000-10683600	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr1:10660000-10684200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:10660200-10684400	Weak transcription	NHLF	lung
27	chr1:10660200-10697600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr1:10660400-10679000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr1:10660400-10679000	Weak transcription	HMEC	breast
30	chr1:10660400-10683800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:10661800-10678200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr1:10661800-10678400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr1:10661800-10692000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr1:10662000-10678200	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr1:10662000-10678400	Weak transcription	Duodenum Mucosa	Duodenum
36	chr1:10662000-10682600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr1:10662000-10683000	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr1:10662200-10694400	Weak transcription	HSMM	muscle
39	chr1:10662400-10678600	Weak transcription	Primary B cells from peripheral blood	blood
40	chr1:10662400-10694400	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr1:10663000-10678800	Weak transcription	NHEK	skin
42	chr1:10663200-10677800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr1:10663200-10678200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:10663200-10678200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr1:10664400-10678200	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr1:10664400-10698000	Weak transcription	Primary B cells from cord blood	blood
47	chr1:10665800-10683000	Weak transcription	Aorta	Aorta
48	chr1:10666000-10677800	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr1:10666200-10677200	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr1:10666200-10677600	Weak transcription	Primary T helper cells fromperipheralblood	blood

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