Variant report

Variant	rs41267548
Chromosome Location	chr1:151104498-151104499
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	SIN3A	chr1:151103383-151104557	H1-hESC	embryonic stem cell:	n/a	n/a
2	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
3	POLR2A	chr1:151103388-151104921	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr1:151103375-151104674	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr1:151103318-151104732	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:151103786..151106331-chr1:151117499..151120768,3	MCF-7	breast:

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

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs41266626	0.83[EUR][1000 genomes]
rs41266630	1.00[EUR][1000 genomes]
rs41310905	1.00[EUR][1000 genomes]
rs57330524	1.00[EUR][1000 genomes]
rs74125065	1.00[EUR][1000 genomes]
rs74125077	1.00[EUR][1000 genomes]
rs74125079	1.00[EUR][1000 genomes]
rs74125080	1.00[EUR][1000 genomes]
rs74125087	1.00[EUR][1000 genomes]
rs74125093	1.00[EUR][1000 genomes]
rs74127505	1.00[EUR][1000 genomes]
rs74127529	1.00[EUR][1000 genomes]

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:110 , 50 per page) page: 1 2 3

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	chr1:151090800-151105000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:151097800-151105600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:151097800-151106000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:151103000-151104600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:151103200-151104600	Active TSS	Brain Anterior Caudate	brain
9	chr1:151103200-151106000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
10	chr1:151103400-151104600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:151103400-151104600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
12	chr1:151103400-151104600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr1:151103400-151104600	Flanking Active TSS	Duodenum Mucosa	Duodenum
14	chr1:151103400-151104600	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr1:151103400-151104600	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
16	chr1:151103400-151104600	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
17	chr1:151103400-151104600	Active TSS	Osteobl	bone
18	chr1:151103400-151104800	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr1:151103400-151104800	Flanking Active TSS	Fetal Brain Female	brain
20	chr1:151103400-151104800	Flanking Active TSS	Fetal Muscle Leg	muscle
21	chr1:151103400-151104800	Flanking Active TSS	Placenta	Placenta
22	chr1:151103400-151105000	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr1:151103400-151105000	Active TSS	Right Atrium	heart
24	chr1:151103400-151105800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr1:151103400-151105800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr1:151103400-151105800	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr1:151103400-151105800	Active TSS	Ovary	ovary
28	chr1:151103400-151106000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
29	chr1:151103400-151106200	Active TSS	H9 Cell Line	embryonic stem cell
30	chr1:151103400-151106400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
31	chr1:151103600-151104600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:151103600-151104600	Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr1:151103600-151104600	Active TSS	Brain Hippocampus Middle	brain
34	chr1:151103600-151104600	Active TSS	Brain Substantia Nigra	brain
35	chr1:151103600-151104600	Flanking Active TSS	Fetal Muscle Trunk	muscle
36	chr1:151103600-151104600	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
37	chr1:151103600-151104600	Active TSS	Small Intestine	intestine
38	chr1:151103600-151105000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
39	chr1:151103600-151105000	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
40	chr1:151103600-151105000	Flanking Active TSS	Stomach Smooth Muscle	stomach
41	chr1:151103600-151105200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr1:151103600-151105200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr1:151103600-151105200	Active TSS	Colon Smooth Muscle	Colon
44	chr1:151103600-151106200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
45	chr1:151103600-151106200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
46	chr1:151103800-151104600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr1:151103800-151104600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
48	chr1:151103800-151104600	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr1:151103800-151104800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr1:151103800-151104800	Flanking Bivalent TSS/Enh	NH-A	brain

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