Variant report

Variant	rs1734413
Chromosome Location	chr2:10913036-10913037
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:10912917-10913480	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr2:10912865-10913040	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:10899966..10902229-chr2:10910282..10913116,3	MCF-7	breast:
2	chr2:10902594..10905238-chr2:10911928..10914865,2	MCF-7	breast:
3	chr2:10908158..10909919-chr2:10911915..10914036,2	K562	blood:
4	chr2:10905694..10908583-chr2:10912957..10914642,3	MCF-7	breast:
5	chr2:10912736..10915766-chr2:10920191..10922104,3	MCF-7	breast:
6	chr2:10911679..10916866-chr2:10918103..10925152,7	K562	blood:
7	chr2:10911903..10913598-chr2:10949391..10951122,2	K562	blood:
8	chr2:10908984..10911442-chr2:10912799..10914956,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000272275	TF binding region
ENSG00000143882	Chromatin interaction
ENSG00000272275	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11678994	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1198842	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1198843	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1198848	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1198849	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12611921	0.87[ASN][1000 genomes]
rs1387572	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1686454	0.85[EUR][1000 genomes]
rs1734414	0.83[EUR][1000 genomes]
rs2171773	0.92[ASN][1000 genomes]
rs2969881	0.84[EUR][1000 genomes]
rs57127376	0.89[ASN][1000 genomes]
rs6757005	0.93[ASN][1000 genomes]
rs880540	0.85[EUR][1000 genomes]
rs902130	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[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	nsv1000953	chr2:10717304-10921805	Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv535584	chr2:10717304-10921805	Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1000731	chr2:10758657-10943882	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1734413	ATP6V1C2	cis	Heart Left Ventricle	GTEx

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10903400-10914400	Weak transcription	Right Atrium	heart
2	chr2:10903600-10914400	Weak transcription	Gastric	stomach
3	chr2:10904200-10916400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr2:10904600-10916400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr2:10904800-10915200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:10905600-10918000	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr2:10906000-10914200	Weak transcription	Esophagus	oesophagus
8	chr2:10906200-10918200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr2:10906200-10918400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:10908000-10918200	Weak transcription	Pancreas	Pancrea
11	chr2:10908000-10918400	Weak transcription	Aorta	Aorta
12	chr2:10908600-10924400	Weak transcription	Psoas Muscle	Psoas
13	chr2:10908800-10917400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr2:10908800-10918200	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr2:10909000-10913400	Weak transcription	Hela-S3	cervix
16	chr2:10909200-10914800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:10909400-10914200	Weak transcription	Right Ventricle	heart
18	chr2:10910800-10917200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:10911400-10917600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr2:10912200-10913200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr2:10912200-10914400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr2:10912200-10916200	Enhancers	Placenta	Placenta
23	chr2:10912200-10918200	Weak transcription	Primary B cells from cord blood	blood
24	chr2:10912800-10913400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr2:10912800-10917600	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr2:10913000-10913200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:10913000-10915400	Enhancers	Fetal Intestine Small	intestine
28	chr2:10913000-10915800	Enhancers	Fetal Muscle Trunk	muscle
29	chr2:10913000-10916000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr2:10913000-10916000	Enhancers	Fetal Muscle Leg	muscle
31	chr2:10913000-10916200	Enhancers	Fetal Intestine Large	intestine

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