Variant report

Variant	rs12119471
Chromosome Location	chr1:185219296-185219297
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:185217953..185220415-chr1:185284645..185286445,2	K562	blood:
2	chr1:185217201..185220197-chr1:185235782..185237394,2	K562	blood:
3	chr1:185215245..185219484-chr1:185283012..185285685,4	K562	blood:
4	chr1:185217244..185219378-chr1:185285867..185287931,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000116679	Chromatin interaction
ENSG00000273004	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10218496	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10453829	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10489579	0.80[EUR][1000 genomes]
rs10489580	0.82[EUR][1000 genomes]
rs10798000	0.82[EUR][1000 genomes]
rs10798003	0.86[ASN][1000 genomes]
rs10798004	0.83[ASN][1000 genomes]
rs10798006	0.82[ASN][1000 genomes]
rs10911693	0.96[EUR][1000 genomes]
rs10911700	0.86[ASN][1000 genomes]
rs12024023	0.85[EUR][1000 genomes]
rs12028408	0.82[EUR][1000 genomes]
rs12096987	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12118722	0.96[EUR][1000 genomes]
rs12120377	0.98[EUR][1000 genomes]
rs12127840	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12135172	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12135769	0.85[ASN][1000 genomes]
rs12136040	0.86[ASN][1000 genomes]
rs12404187	0.82[EUR][1000 genomes]
rs1336752	0.91[EUR][1000 genomes]
rs1336753	0.86[ASN][1000 genomes]
rs1415072	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1591585	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1889976	0.86[ASN][1000 genomes]
rs1969750	0.80[EUR][1000 genomes]
rs2025227	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2050566	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2095610	0.85[ASN][1000 genomes]
rs2146328	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2383269	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34611062	0.86[ASN][1000 genomes]
rs3766717	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs57731138	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs57977436	0.86[ASN][1000 genomes]
rs6424972	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6424974	0.96[EUR][1000 genomes]
rs6660169	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6666742	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6670117	0.81[AMR][1000 genomes]
rs6673303	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6682891	0.82[ASN][1000 genomes]
rs6698109	0.80[EUR][1000 genomes]
rs6698122	0.80[EUR][1000 genomes]
rs7512245	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7512290	0.81[EUR][1000 genomes]
rs7522617	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7533198	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7535064	0.98[EUR][1000 genomes]
rs7535261	0.94[EUR][1000 genomes]
rs7537341	0.85[ASN][1000 genomes]
rs7539575	0.86[ASN][1000 genomes]
rs7539658	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7542721	0.86[ASN][1000 genomes]
rs7543962	0.80[EUR][1000 genomes]
rs7550586	0.96[EUR][1000 genomes]
rs7550599	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7552662	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7553819	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7556183	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs951428	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185192600-185221000	Weak transcription	Fetal Intestine Small	intestine
2	chr1:185193600-185219400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:185193800-185220400	Weak transcription	Brain Hippocampus Middle	brain
4	chr1:185193800-185263600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr1:185197600-185220400	Weak transcription	Ovary	ovary
6	chr1:185210600-185250400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr1:185214600-185229400	Weak transcription	NHDF-Ad	bronchial
8	chr1:185218000-185219800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr1:185218200-185219400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:185218200-185219600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr1:185218200-185219600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr1:185218200-185219600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:185218200-185219800	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr1:185218400-185219400	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr1:185218400-185219400	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr1:185218400-185219400	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr1:185218400-185219600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr1:185218800-185219400	Enhancers	Fetal Thymus	thymus
19	chr1:185218800-185219600	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr1:185218800-185219600	Flanking Active TSS	K562	blood
21	chr1:185218800-185219800	Enhancers	H9 Cell Line	embryonic stem cell
22	chr1:185218800-185269400	Weak transcription	Pancreas	Pancrea
23	chr1:185219200-185219800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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