Variant report

Variant	rs75585997
Chromosome Location	chr1:151105076-151105077
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F6	chr1:151103259-151106011	H1-hESC	embryonic stem cell:	n/a	chr1:151103613-151103620 chr1:151103613-151103620 chr1:151103612-151103621 chr1:151103612-151103624 chr1:151103969-151103979 chr1:151103613-151103620
2	EGR1	chr1:151105046-151105466	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAX	chr1:151105069-151106289	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:151105049-151105099	U87	brain:	n/a
2	chr1:151105049-151105099	Hela-S3	cervix:	n/a
3	chr1:151105049-151105099	PFSK-1	brain:	n/a
4	chr1:151105049-151105099	MCF10A-Er-Src	breast:	n/a
5	chr1:151105049-151105099	AG09309	skin:	n/a
6	chr1:151105049-151105099	NB4	blood:	n/a
7	chr1:151105049-151105099	SK-N-SH	brain:	n/a
8	chr1:151105049-151105099	HRCEpiC	kidney:	n/a
9	chr1:151105049-151105099	ECC-1	luminal epithelium:	n/a
10	chr1:151105049-151105099	K562	blood:	n/a
11	chr1:151105049-151105099	SK-N-SH_RA	brain:	n/a
12	chr1:151105049-151105099	NT2-D1	testis:	n/a
13	chr1:151105049-151105099	BJ	skin:	n/a
14	chr1:151105049-151105099	AG04450	lung:	fetal
15	chr1:151105049-151105099	IMR90	lung:	fetal
16	chr1:151105049-151105099	SAEC	small airway:	n/a
17	chr1:151105049-151105099	HMEC	breast:	n/a
18	chr1:151105049-151105099	AoSMC	blood vessel:	n/a
19	chr1:151105049-151105099	A549	lung:	n/a
20	chr1:151105049-151105099	HRE	kidney:	n/a
21	chr1:151105049-151105099	H1-hESC	embryonic stem cell:	embryo
22	chr1:151105049-151105099	HPAEpiC	pulmonary alveolar:	n/a
23	chr1:151105049-151105099	GM06990	blood:	n/a
24	chr1:151105049-151105099	NHDF-neo	bronchial:	n/a
25	chr1:151105049-151105099	SK-N-MC	brain:	n/a
26	chr1:151105049-151105099	HIPEpiC	eye:	n/a
27	chr1:151105049-151105099	HCM	heart:	n/a
28	chr1:151105049-151105099	CMK	blood:	n/a
29	chr1:151105049-151105099	Jurkat	blood:	n/a
30	chr1:151105049-151105099	Caco-2	colon:	n/a
31	chr1:151105049-151105099	SKMC	muscle:	n/a
32	chr1:151105049-151105099	GM12891	blood:	n/a
33	chr1:151105049-151105099	HAEpiC	amniotic membrane:	n/a
34	chr1:151105049-151105099	HEEpiC	esophagus:	n/a
35	chr1:151105049-151105099	LNCaP	prostate:	n/a
36	chr1:151105049-151105099	RPTEC	kidney:	n/a
37	chr1:151105049-151105099	HL-60	blood:	n/a
38	chr1:151105049-151105099	ProgFib	skin:	n/a
39	chr1:151105049-151105099	GM12892	blood:	n/a
40	chr1:151105049-151105099	HNPCEpiC	eye:	n/a
41	chr1:151105049-151105099	HCF	heart:	n/a
42	chr1:151105049-151105099	PrEC	prostate:	n/a
43	chr1:151105049-151105099	T-47D	breast:	n/a
44	chr1:151105049-151105099	AG04449	skin:	fetal
45	chr1:151105049-151105099	AG09319	gingival:	n/a
46	chr1:151105049-151105099	GM19239	blood:	n/a
47	chr1:151105049-151105099	HepG2	liver:	n/a
48	chr1:151105049-151105099	HCT-116	colon:	n/a
49	chr1:151105049-151105099	AG10803	skin:	n/a
50	chr1:151105049-151105099	HEK293	kidney:	embryo

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151103786..151106331-chr1:151117499..151120768,3	MCF-7	breast:
2	chr1:151104790..151107252-chr1:151107376..151109485,2	K562	blood:
3	chr1:151104617..151106812-chr1:151117447..151119044,2	MCF-7	breast:
4	chr1:151104720..151106721-chr1:151225505..151227550,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000261168	TF binding region
ENSG00000261168	CpG island
ENSG00000143434	Chromatin interaction
ENSG00000159352	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv522840	chr1:150933723-151347746	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
4	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
5	nsv872422	chr1:151098077-151115186	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv872423	chr1:151100612-151115997	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	esv3399787	chr1:151104353-151106901	Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151061800-151105600	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr1:151079800-151106200	Weak transcription	HSMMtube	muscle
3	chr1:151079800-151114800	Weak transcription	HSMM	muscle
4	chr1:151097800-151105600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:151097800-151106000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:151103200-151106000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
7	chr1:151103400-151105800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr1:151103400-151105800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:151103400-151105800	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr1:151103400-151105800	Active TSS	Ovary	ovary
11	chr1:151103400-151106000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
12	chr1:151103400-151106200	Active TSS	H9 Cell Line	embryonic stem cell
13	chr1:151103400-151106400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
14	chr1:151103600-151105200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:151103600-151105200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:151103600-151105200	Active TSS	Colon Smooth Muscle	Colon
17	chr1:151103600-151106200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
18	chr1:151103600-151106200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
19	chr1:151104000-151106000	Enhancers	Pancreas	Pancrea
20	chr1:151104000-151114800	Weak transcription	Psoas Muscle	Psoas
21	chr1:151104200-151105400	Enhancers	Fetal Heart	heart
22	chr1:151104200-151106000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:151104200-151106200	Enhancers	Fetal Brain Male	brain
24	chr1:151104200-151107800	Weak transcription	Liver	Liver
25	chr1:151104400-151105200	ZNF genes & repeats	Fetal Intestine Large	intestine
26	chr1:151104400-151105200	Flanking Active TSS	Placenta Amnion	Placenta Amnion
27	chr1:151104400-151105200	Active TSS	Rectal Smooth Muscle	rectum
28	chr1:151104400-151105200	Bivalent/Poised TSS	NHEK	skin
29	chr1:151104400-151105600	Active TSS	Gastric	stomach
30	chr1:151104400-151105600	Weak transcription	Left Ventricle	heart
31	chr1:151104400-151105800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
32	chr1:151104400-151106000	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr1:151104400-151106200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
34	chr1:151104400-151106600	Weak transcription	Brain Cingulate Gyrus	brain
35	chr1:151104400-151106800	Weak transcription	Brain Angular Gyrus	brain
36	chr1:151104400-151107600	Weak transcription	GM12878-XiMat	blood
37	chr1:151104400-151110400	Weak transcription	NHLF	lung
38	chr1:151104400-151111200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr1:151104400-151116600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr1:151104400-151117000	Weak transcription	Fetal Kidney	kidney
41	chr1:151104400-151118000	Weak transcription	Aorta	Aorta
42	chr1:151104600-151105200	Enhancers	Esophagus	oesophagus
43	chr1:151104600-151105200	Enhancers	Fetal Muscle Trunk	muscle
44	chr1:151104600-151106000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr1:151104600-151106200	Weak transcription	Brain Hippocampus Middle	brain
46	chr1:151104600-151106200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr1:151104600-151106200	Weak transcription	Fetal Lung	lung
48	chr1:151104600-151106600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr1:151104600-151106600	Weak transcription	Brain Anterior Caudate	brain
50	chr1:151104600-151106600	Weak transcription	HUVEC	blood vessel

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