Variant report

Variant	rs188489921
Chromosome Location	chr1:240160839-240160840
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873351	chr1:239636613-240324200	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	esv2757778	chr1:239766094-240389504	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	esv2759009	chr1:239766094-240389504	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	esv35011	chr1:239907420-240298959	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	esv2756891	chr1:239907420-240308147	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv873353	chr1:239913038-240253320	Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv873354	chr1:239913038-240303322	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	nsv827531	chr1:239914745-240300206	Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv873355	chr1:239934541-240206985	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
10	nsv534543	chr1:239940371-240191534	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
11	nsv519393	chr1:239962002-240190588	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
12	nsv997935	chr1:240067402-240231654	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv945683	chr1:240096513-240175254	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	esv3336326	chr1:240111594-240430845	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
15	esv3399078	chr1:240126875-240188660	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	nsv549440	chr1:240127293-240161721	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	nsv1014002	chr1:240134783-240453624	Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
18	nsv535362	chr1:240134783-240453624	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
19	nsv947397	chr1:240149507-240167989	Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
20	esv3412218	chr1:240159854-240162902	Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:240160600-240161000	Bivalent Enhancer	Placenta	Placenta
2	chr1:240160600-240161200	Active TSS	H1 Cell Line	embryonic stem cell
3	chr1:240160600-240161400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:240160600-240161400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
5	chr1:240160600-240161600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:240160600-240161600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
7	chr1:240160600-240161600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:240160600-240161800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
9	chr1:240160600-240161800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
10	chr1:240160600-240161800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
11	chr1:240160600-240161800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
12	chr1:240160600-240161800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
13	chr1:240160600-240161800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
14	chr1:240160600-240161800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr1:240160600-240161800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:240160600-240161800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
17	chr1:240160600-240161800	Bivalent/Poised TSS	HSMM	muscle
18	chr1:240160800-240161000	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
19	chr1:240160800-240161000	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
20	chr1:240160800-240161000	Bivalent Enhancer	Fetal Intestine Small	intestine
21	chr1:240160800-240161000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
22	chr1:240160800-240161000	Bivalent/Poised TSS	Psoas Muscle	Psoas
23	chr1:240160800-240161200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr1:240160800-240161200	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:240160800-240161200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
26	chr1:240160800-240161200	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
27	chr1:240160800-240161200	Enhancers	Gastric	stomach
28	chr1:240160800-240161200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
29	chr1:240160800-240161400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
30	chr1:240160800-240161400	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr1:240160800-240161400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr1:240160800-240161600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr1:240160800-240161600	Active TSS	H9 Cell Line	embryonic stem cell
34	chr1:240160800-240161600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr1:240160800-240161600	Bivalent Enhancer	Left Ventricle	heart
36	chr1:240160800-240161600	Bivalent Enhancer	Lung	lung
37	chr1:240160800-240161600	Flanking Bivalent TSS/Enh	Ovary	ovary
38	chr1:240160800-240161600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
39	chr1:240160800-240161800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
40	chr1:240160800-240161800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr1:240160800-240161800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr1:240160800-240161800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
43	chr1:240160800-240161800	Bivalent/Poised TSS	A549	lung

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