Variant report

Variant	rs10184339
Chromosome Location	chr2:113412003-113412004
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:113411734-113413864	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr2:113411600-113418968	HepG2	liver:	n/a	n/a
3	POLR2A	chr2:113411634-113419051	K562	blood:	n/a	n/a
4	POLR2A	chr2:113412000-113412254	GM12878	blood:	n/a	n/a
5	POLR2A	chr2:113411545-113413404	K562	blood:	n/a	n/a
6	POLR2A	chr2:113401765-113425023	U87	brain:	n/a	n/a
7	PML	chr2:113411540-113412270	K562	blood:	n/a	n/a
8	NFYB	chr2:113411895-113412095	GM12878	blood:	n/a	n/a
9	POLR2A	chr2:113411511-113413860	K562	blood:	n/a	n/a
10	POLR2A	chr2:113402016-113412293	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr2:113401943-113419910	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr2:113411757-113412041	K562	blood:	n/a	n/a
13	POLR2A	chr2:113401765-113425014	U87	brain:	n/a	n/a
14	POLR2A	chr2:113411563-113413860	U87	brain:	n/a	n/a
15	POLR2A	chr2:113411663-113418887	A549	lung:	n/a	n/a
16	POLR2A	chr2:113411635-113412191	PFSK-1	brain:	n/a	n/a
17	POLR2A	chr2:113411563-113412270	U87	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:113401171..113414378-chr2:113468812..113486672,46	K562	blood:
2	chr2:113411615..113414143-chr2:113441711..113444242,3	K562	blood:

No data

Variant related genes	Relation type
SLC20A1	TF binding region
ENSG00000144130	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10167360	0.82[ASN][1000 genomes]
rs10171024	0.91[EUR][1000 genomes]
rs10758	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10779885	0.84[ASN][1000 genomes]
rs11123146	0.83[ASN][1000 genomes]
rs11889567	0.82[ASN][1000 genomes]
rs12467747	0.84[ASN][1000 genomes]
rs12475403	0.83[ASN][1000 genomes]
rs12612089	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12612238	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12618806	0.82[ASN][1000 genomes]
rs17515708	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17515715	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2048873	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34282612	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs35048989	0.92[EUR][1000 genomes]
rs3827758	0.86[ASN][1000 genomes]
rs4261730	0.84[ASN][1000 genomes]
rs4849086	0.91[EUR][1000 genomes]
rs4849091	0.93[ASN][1000 genomes]
rs4849097	0.82[ASN][1000 genomes]
rs58662040	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60372418	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6542074	0.94[ASN][1000 genomes]
rs6705487	0.85[ASN][1000 genomes]
rs6725228	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72823516	0.82[ASN][1000 genomes]
rs7371700	0.82[ASN][1000 genomes]
rs9308674	0.81[ASN][1000 genomes]
rs9308675	0.82[ASN][1000 genomes]
rs9308676	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv458997	chr2:113313794-113431092	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv582708	chr2:113313794-113431092	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv470480	chr2:113373950-113429752	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv428724	chr2:113376894-113555421	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	nsv1010106	chr2:113394981-113556071	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113404800-113412600	Weak transcription	Gastric	stomach
2	chr2:113404800-113414400	Weak transcription	Esophagus	oesophagus
3	chr2:113404800-113416200	Weak transcription	Ovary	ovary
4	chr2:113404800-113416800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:113405000-113413200	Strong transcription	Placenta	Placenta
6	chr2:113405000-113416200	Weak transcription	Aorta	Aorta
7	chr2:113405000-113416400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr2:113405000-113423200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:113405200-113413600	Strong transcription	Left Ventricle	heart
10	chr2:113405200-113419000	Weak transcription	Stomach Mucosa	stomach
11	chr2:113405200-113423200	Strong transcription	H1 Cell Line	embryonic stem cell
12	chr2:113405200-113423800	Strong transcription	Fetal Muscle Trunk	muscle
13	chr2:113405400-113412600	Weak transcription	Pancreas	Pancrea
14	chr2:113405400-113422600	Strong transcription	Primary B cells from peripheral blood	blood
15	chr2:113405400-113423200	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr2:113405400-113423200	Strong transcription	Skeletal Muscle Male	skeletal muscle
17	chr2:113405600-113422000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr2:113405800-113422600	Strong transcription	Fetal Muscle Leg	muscle
19	chr2:113406000-113414600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:113406000-113419600	Strong transcription	Fetal Lung	lung
21	chr2:113406000-113423000	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr2:113406200-113423400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr2:113406200-113423400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr2:113406200-113423600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:113406200-113424600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:113406400-113414400	Weak transcription	Right Ventricle	heart
27	chr2:113406400-113423000	Strong transcription	H9 Cell Line	embryonic stem cell
28	chr2:113406400-113423000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr2:113406400-113423200	Strong transcription	Duodenum Mucosa	Duodenum
30	chr2:113406800-113412800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:113406800-113423200	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr2:113407000-113412200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:113407000-113413400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:113407000-113413600	Strong transcription	Fetal Brain Female	brain
35	chr2:113407000-113415200	Strong transcription	A549	lung
36	chr2:113407000-113416800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr2:113407000-113417000	Weak transcription	Fetal Brain Male	brain
38	chr2:113407000-113420600	Strong transcription	Adipose Nuclei	Adipose
39	chr2:113407000-113423000	Strong transcription	NHDF-Ad	bronchial
40	chr2:113407000-113423200	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr2:113407000-113423200	Strong transcription	Fetal Thymus	thymus
42	chr2:113407000-113423200	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr2:113407000-113423400	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr2:113407000-113423400	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr2:113407200-113415600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr2:113407200-113417200	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr2:113407400-113413000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:113407400-113417000	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr2:113407400-113417200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr2:113407400-113419400	Strong transcription	Primary monocytes fromperipheralblood	blood

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