Variant report

Variant	rs7512434
Chromosome Location	chr1:240161721-240161722
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs34281005	0.91[ASN][1000 genomes]
rs35013159	0.82[AFR][1000 genomes]
rs7519213	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7550192	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7553490	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 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
21	nsv873357	chr1:240161721-240183949	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:240160600-240161800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
2	chr1:240160600-240161800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
3	chr1:240160600-240161800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
4	chr1:240160600-240161800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
5	chr1:240160600-240161800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
6	chr1:240160600-240161800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
7	chr1:240160600-240161800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr1:240160600-240161800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr1:240160600-240161800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
10	chr1:240160600-240161800	Bivalent/Poised TSS	HSMM	muscle
11	chr1:240160800-240161800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
12	chr1:240160800-240161800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:240160800-240161800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:240160800-240161800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
15	chr1:240160800-240161800	Bivalent/Poised TSS	A549	lung
16	chr1:240161000-240161800	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
17	chr1:240161200-240161800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:240161200-240161800	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:240161200-240161800	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:240161200-240161800	Bivalent Enhancer	Liver	Liver
21	chr1:240161200-240161800	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
22	chr1:240161200-240161800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
23	chr1:240161200-240161800	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
24	chr1:240161200-240161800	Bivalent Enhancer	Small Intestine	intestine
25	chr1:240161200-240161800	Bivalent/Poised TSS	HSMMtube	muscle
26	chr1:240161200-240161800	Bivalent/Poised TSS	NH-A	brain
27	chr1:240161200-240161800	Bivalent/Poised TSS	NHDF-Ad	bronchial
28	chr1:240161200-240161800	Bivalent/Poised TSS	Osteobl	bone
29	chr1:240161400-240161800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
30	chr1:240161400-240161800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:240161400-240161800	Bivalent Enhancer	Colon Smooth Muscle	Colon
32	chr1:240161400-240161800	Bivalent/Poised TSS	Fetal Brain Female	brain
33	chr1:240161400-240161800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
34	chr1:240161400-240161800	Bivalent Enhancer	HUVEC	blood vessel
35	chr1:240161600-240161800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr1:240161600-240161800	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr1:240161600-240161800	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
38	chr1:240161600-240161800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
39	chr1:240161600-240161800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr1:240161600-240161800	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
41	chr1:240161600-240161800	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr1:240161600-240161800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr1:240161600-240161800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr1:240161600-240161800	Bivalent Enhancer	Fetal Intestine Small	intestine
45	chr1:240161600-240161800	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
46	chr1:240161600-240162000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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