Variant report

Variant	rs4000766
Chromosome Location	chr1:91795318-91795319
allele	-/TAG
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	POLR2A	chr1:91795121-91795499	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr1:91795089-91795597	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr1:91795259-91795579	K562	blood:	n/a	n/a
4	POLR2A	chr1:91795276-91795328	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr1:91795241-91795472	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
HFM1	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949516	chr1:91644418-92109261	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv1800676	chr1:91722083-91854389	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	esv1796351	chr1:91722083-91872374	Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv1006022	chr1:91768640-91831196	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv871685	chr1:91774458-91849219	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv546806	chr1:91780408-91875505	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv437904	chr1:91790876-91801207	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
8	nsv946067	chr1:91793889-91795652	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region lncRNA	2 gene(s)	inside rSNPs	n/a
9	nsv519110	chr1:91794248-91800946	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:91773600-91796200	Weak transcription	Fetal Kidney	kidney
2	chr1:91782600-91804800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:91788400-91810800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr1:91788800-91795800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:91791200-91803400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:91791400-91805400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr1:91792800-91796200	Weak transcription	Brain Hippocampus Middle	brain
8	chr1:91793000-91797000	Weak transcription	Fetal Intestine Large	intestine
9	chr1:91793200-91819400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr1:91793400-91805600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr1:91793600-91795800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr1:91793800-91795400	Strong transcription	Brain Germinal Matrix	brain
13	chr1:91793800-91795600	Strong transcription	Left Ventricle	heart
14	chr1:91793800-91795600	Strong transcription	Ovary	ovary
15	chr1:91793800-91795600	Strong transcription	Pancreas	Pancrea
16	chr1:91793800-91795600	Strong transcription	Skeletal Muscle Male	skeletal muscle
17	chr1:91793800-91795600	Strong transcription	Stomach Smooth Muscle	stomach
18	chr1:91793800-91795800	Strong transcription	Fetal Stomach	stomach
19	chr1:91793800-91796000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:91793800-91796600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:91794000-91795400	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr1:91794000-91795600	Strong transcription	Fetal Lung	lung
23	chr1:91794000-91796400	Strong transcription	Skeletal Muscle Female	skeletal muscle
24	chr1:91794000-91826600	Weak transcription	Fetal Heart	heart
25	chr1:91794200-91795600	Strong transcription	Fetal Muscle Trunk	muscle
26	chr1:91794400-91795400	Weak transcription	Aorta	Aorta
27	chr1:91794400-91795600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr1:91794400-91795800	Weak transcription	Spleen	Spleen
29	chr1:91794400-91796600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr1:91794400-91796800	ZNF genes & repeats	Fetal Brain Female	brain
31	chr1:91794400-91802400	Weak transcription	Right Ventricle	heart
32	chr1:91794600-91802400	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr1:91794800-91799200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr1:91794800-91804600	Weak transcription	Fetal Intestine Small	intestine
35	chr1:91795000-91796600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr1:91795000-91803800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr1:91795200-91795800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr1:91795200-91802400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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