Variant report

Variant	rs180891239
Chromosome Location	chr1:76079971-76079972
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	TAL1	chr1:76079891-76080441	K562	blood:	n/a	chr1:76080201-76080219
2	MXI1	chr1:76078645-76082977	SK-N-SH	brain:	n/a	chr1:76080753-76080768
3	ZMIZ1	chr1:76079927-76080521	K562	blood:	n/a	n/a
4	CTCF	chr1:76079517-76082489	SK-N-SH	brain:	n/a	chr1:76082042-76082055

No.	Distal block	Cell Line	Cell type
1	chr1:76070009..76076148-chr1:76078248..76081967,7	K562	blood:
2	chr1:76071710..76074403-chr1:76079679..76081378,2	K562	blood:
3	chr1:76079907..76082887-chr11:62607623..62609125,2	K562	blood:
4	chr1:76079906..76082887-chr11:62607618..62609123,2	K562	blood:
5	chr1:76079591..76081611-chr1:76189875..76191572,2	MCF-7	breast:
6	chr1:76066835..76069254-chr1:76079406..76081859,2	MCF-7	breast:
7	chr1:76079931..76081989-chr1:76083963..76086787,2	K562	blood:

Variant related genes	Relation type
SLC44A5	TF binding region
ENSG00000133316	Chromatin interaction
ENSG00000117054	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519329	chr1:75830438-76358591	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv3445096	chr1:75933216-76126980	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv2757737	chr1:75986904-76187748	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	esv2758943	chr1:75986904-76187748	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv427675	chr1:76070382-76187748	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv10284	chr1:76079955-76082780	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76078800-76080600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:76079400-76081400	Active TSS	Fetal Brain Male	brain
3	chr1:76079600-76080000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:76079600-76080000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:76079600-76080000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
6	chr1:76079600-76080200	Enhancers	Fetal Heart	heart
7	chr1:76079600-76080400	Flanking Active TSS	Brain Germinal Matrix	brain
8	chr1:76079600-76080600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
9	chr1:76079800-76080000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
10	chr1:76079800-76080000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:76079800-76080000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
12	chr1:76079800-76080000	Flanking Active TSS	Brain Anterior Caudate	brain
13	chr1:76079800-76080000	Flanking Active TSS	Brain Substantia Nigra	brain
14	chr1:76079800-76080200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:76079800-76080200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr1:76079800-76080200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:76079800-76080200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr1:76079800-76080200	Active TSS	Brain Angular Gyrus	brain
19	chr1:76079800-76080200	Enhancers	Brain Cingulate Gyrus	brain
20	chr1:76079800-76080200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
21	chr1:76079800-76080400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
22	chr1:76079800-76080400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
23	chr1:76079800-76080400	Bivalent Enhancer	Stomach Mucosa	stomach
24	chr1:76079800-76081200	Active TSS	Fetal Brain Female	brain
25	chr1:76079800-76082200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
26	chr1:76079800-76082600	Active TSS	Pancreatic Islets	Pancreatic Islet

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