Variant report

Variant	rs587743691
Chromosome Location	chr1:151105769-151105770
allele	A/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	MAX	chr1:151105411-151106236	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr1:151105591-151105779	H1-hESC	embryonic stem cell:	n/a	n/a
3	RAD21	chr1:151105607-151105807	H1-hESC	embryonic stem cell:	n/a	n/a
4	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
5	CTCF	chr1:151105640-151105790	HMEC	breast:	n/a	n/a
6	MAX	chr1:151105069-151106289	H1-hESC	embryonic stem cell:	n/a	n/a
7	SIN3A	chr1:151105540-151106276	H1-hESC	embryonic stem cell:	n/a	n/a
8	ZNF143	chr1:151105660-151105950	H1-hESC	embryonic stem cell:	n/a	n/a

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:

Variant related genes	Relation type
ENSG00000261168	TF binding region
SEMA6C	TF binding region
ENSG00000159352	Chromatin interaction
ENSG00000143434	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:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151079800-151106200	Weak transcription	HSMMtube	muscle
2	chr1:151079800-151114800	Weak transcription	HSMM	muscle
3	chr1:151097800-151106000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:151103200-151106000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr1:151103400-151105800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr1:151103400-151105800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:151103400-151105800	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr1:151103400-151105800	Active TSS	Ovary	ovary
9	chr1:151103400-151106000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
10	chr1:151103400-151106200	Active TSS	H9 Cell Line	embryonic stem cell
11	chr1:151103400-151106400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
12	chr1:151103600-151106200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
13	chr1:151103600-151106200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
14	chr1:151104000-151106000	Enhancers	Pancreas	Pancrea
15	chr1:151104000-151114800	Weak transcription	Psoas Muscle	Psoas
16	chr1:151104200-151106000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:151104200-151106200	Enhancers	Fetal Brain Male	brain
18	chr1:151104200-151107800	Weak transcription	Liver	Liver
19	chr1:151104400-151105800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
20	chr1:151104400-151106000	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr1:151104400-151106200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
22	chr1:151104400-151106600	Weak transcription	Brain Cingulate Gyrus	brain
23	chr1:151104400-151106800	Weak transcription	Brain Angular Gyrus	brain
24	chr1:151104400-151107600	Weak transcription	GM12878-XiMat	blood
25	chr1:151104400-151110400	Weak transcription	NHLF	lung
26	chr1:151104400-151111200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:151104400-151116600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr1:151104400-151117000	Weak transcription	Fetal Kidney	kidney
29	chr1:151104400-151118000	Weak transcription	Aorta	Aorta
30	chr1:151104600-151106000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr1:151104600-151106200	Weak transcription	Brain Hippocampus Middle	brain
32	chr1:151104600-151106200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr1:151104600-151106200	Weak transcription	Fetal Lung	lung
34	chr1:151104600-151106600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr1:151104600-151106600	Weak transcription	Brain Anterior Caudate	brain
36	chr1:151104600-151106600	Weak transcription	HUVEC	blood vessel
37	chr1:151104600-151107600	Weak transcription	Brain Substantia Nigra	brain
38	chr1:151104600-151108200	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr1:151104600-151109000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr1:151104600-151117400	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr1:151104600-151118200	Weak transcription	Primary T cells from cord blood	blood
42	chr1:151104800-151106000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
43	chr1:151104800-151106000	Strong transcription	Skeletal Muscle Male	skeletal muscle
44	chr1:151104800-151106200	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr1:151104800-151106600	Bivalent Enhancer	Brain Germinal Matrix	brain
46	chr1:151104800-151106800	Weak transcription	Duodenum Mucosa	Duodenum
47	chr1:151104800-151107600	Weak transcription	Lung	lung
48	chr1:151104800-151108200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr1:151104800-151108400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr1:151104800-151115600	Weak transcription	Primary hematopoietic stem cells	blood

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