Variant report

Variant	rs10915914
Chromosome Location	chr1:226163330-226163331
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:226162509..226165639-chr1:226249685..226252851,4	K562	blood:
2	chr1:226162239..226166134-chr1:226308775..226311257,3	K562	blood:
3	chr1:226094730..226096408-chr1:226161772..226163850,2	K562	blood:
4	chr1:225661061..225665257-chr1:226163112..226166318,3	K562	blood:
5	chr1:225965176..225965840-chr1:226163208..226163943,2	MCF-7	breast:
6	chr1:226038787..226041210-chr1:226162125..226164130,2	K562	blood:
7	chr1:225961965..225964037-chr1:226163126..226165079,2	K562	blood:
8	chr1:225662226..225663306-chr1:226163275..226164318,16	MCF-7	breast:
9	chr1:226155312..226157512-chr1:226161102..226163896,3	K562	blood:
10	chr1:226111448..226113003-chr1:226162555..226164557,2	MCF-7	breast:
11	chr1:225964770..225967483-chr1:226161831..226164042,4	K562	blood:
12	chr1:226159521..226162180-chr1:226162227..226164425,2	K562	blood:
13	chr1:225661996..225663242-chr1:226163233..226164619,8	MCF-7	breast:
14	chr1:226162204..226165868-chr1:226249705..226252977,5	K562	blood:
15	chr1:225662226..225663837-chr1:226162713..226165257,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143811	Chromatin interaction
ENSG00000163041	Chromatin interaction
ENSG00000143742	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10753411	0.83[AMR][1000 genomes]
rs10915912	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10915918	0.80[ASN][1000 genomes]
rs12728713	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12743167	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12743653	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1989569	0.83[AFR][1000 genomes]
rs4604663	0.82[AMR][1000 genomes]
rs6426092	0.89[ASN][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	esv1834948	chr1:225874059-226214882	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv524126	chr1:225973777-226210653	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv2762223	chr1:226025175-226201716	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10915914	H3F3A	cis	Nerve Tibial	GTEx
rs10915914	H3F3A	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226129600-226185600	Weak transcription	Right Atrium	heart
2	chr1:226156400-226165400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:226156800-226167200	Weak transcription	HepG2	liver
4	chr1:226156800-226167600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:226157000-226165000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr1:226157000-226167200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:226157000-226167400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr1:226157800-226165200	Weak transcription	Spleen	Spleen
9	chr1:226158800-226165400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr1:226160000-226164600	Weak transcription	Thymus	Thymus
11	chr1:226160800-226163600	Weak transcription	Fetal Intestine Small	intestine
12	chr1:226161000-226165200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:226161000-226165400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr1:226161200-226163600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:226161200-226164400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:226161200-226165400	Weak transcription	K562	blood
17	chr1:226161200-226167200	Weak transcription	Fetal Kidney	kidney
18	chr1:226161200-226167200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr1:226161400-226163600	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr1:226161600-226163400	Weak transcription	Placenta	Placenta
21	chr1:226162400-226165000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:226162400-226173000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:226162600-226164600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr1:226162800-226165400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:226163000-226165400	Weak transcription	HSMM	muscle
26	chr1:226163200-226167200	Weak transcription	Monocytes-CD14+_RO01746	blood

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