Variant report

Variant	rs12053237
Chromosome Location	chr2:100012456-100012457
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:100012124-100012521	HepG2	liver:	n/a	n/a
2	POLR2A	chr2:100012150-100012494	HepG2	liver:	n/a	n/a
3	POLR2A	chr2:100011412-100013175	MCF-7	breast:	n/a	n/a
4	POLR2A	chr2:100012135-100015082	GM12878	blood:	n/a	n/a
5	POLR2A	chr2:100012150-100012486	K562	blood:	n/a	n/a
6	POLR2A	chr2:100011630-100017383	K562	blood:	n/a	n/a
7	POLR2A	chr2:100012064-100012565	GM12891	blood:	n/a	n/a
8	POLR2A	chr2:100012188-100012599	PFSK-1	brain:	n/a	n/a
9	POLR2A	chr2:100012127-100012621	K562	blood:	n/a	n/a
10	POLR2A	chr2:100012023-100012819	SK-N-MC	brain:	n/a	n/a
11	POLR2A	chr2:100012025-100012612	GM12878	blood:	n/a	n/a
12	FOSL2	chr2:100012052-100013471	HepG2	liver:	n/a	n/a
13	POLR2A	chr2:100012114-100013069	HepG2	liver:	n/a	n/a
14	POLR2A	chr2:100012177-100016656	GM12891	blood:	n/a	n/a
15	POLR2A	chr2:100012102-100016652	GM12878	blood:	n/a	n/a
16	POLR2A	chr2:100010038-100028424	K562	blood:	n/a	n/a
17	POLR2A	chr2:100012107-100013589	HepG2	liver:	n/a	n/a
18	POLR2A	chr2:100011960-100012500	PANC-1	pancreas:	n/a	n/a
19	POLR2A	chr2:100012148-100012501	K562	blood:	n/a	n/a
20	POLR2A	chr2:100011558-100023544	K562	blood:	n/a	n/a
21	POLR2A	chr2:100012191-100012973	HepG2	liver:	n/a	n/a
22	POLR2A	chr2:100012038-100012500	GM12891	blood:	n/a	n/a
23	POLR2A	chr2:100011648-100013610	HepG2	liver:	n/a	n/a
24	POLR2A	chr2:100012039-100012508	HL-60	blood:	n/a	n/a
25	POLR2A	chr2:100011420-100016315	Hela-S3	cervix:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:100010012..100012925-chr2:100019306..100020928,2	K562	blood:
2	chr2:100008715..100012637-chr2:100019428..100022260,4	K562	blood:
3	chr2:100010402..100012804-chr2:100013406..100016035,2	MCF-7	breast:

No data

Variant related genes	Relation type
EIF5B	TF binding region
ENSG00000135945	Chromatin interaction
ENSG00000273306	Chromatin interaction
ENSG00000158417	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11123773	0.84[EUR][1000 genomes]
rs28369937	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28369961	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28382870	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28382877	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28382901	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28382910	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28382911	1.00[ASN][1000 genomes]
rs28382914	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28382922	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28382925	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28382931	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28382936	1.00[ASN][1000 genomes]
rs28382959	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28382974	1.00[ASN][1000 genomes]
rs28382975	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28382986	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28745278	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3197957	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41280587	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73964149	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv524466	chr2:99952086-100031551	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv1014604	chr2:99980851-100097884	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv1006625	chr2:99984550-100096371	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 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	chr2:99983200-100013600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:99999400-100056800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:100000000-100014800	Weak transcription	Psoas Muscle	Psoas
4	chr2:100001000-100022000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr2:100004800-100023000	Strong transcription	Primary B cells from cord blood	blood
6	chr2:100004800-100044800	Strong transcription	Primary T helper cells PMA-I stimulated	--
7	chr2:100005200-100049800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr2:100005400-100020000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:100005600-100045400	Strong transcription	Primary T cells from cord blood	blood
10	chr2:100005800-100016600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr2:100005800-100019600	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr2:100005800-100019600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr2:100005800-100045200	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr2:100005800-100062600	Strong transcription	Dnd41	blood
15	chr2:100005800-100066000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr2:100006000-100019000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:100006000-100019200	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr2:100006000-100019200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
19	chr2:100006000-100019600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:100006000-100023400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr2:100006000-100026200	Strong transcription	HUVEC	blood vessel
22	chr2:100006000-100034200	Strong transcription	GM12878-XiMat	blood
23	chr2:100006000-100046400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr2:100006000-100049600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr2:100006000-100050800	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr2:100006000-100051000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr2:100006000-100081200	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr2:100006200-100017800	Strong transcription	Hela-S3	cervix
29	chr2:100006200-100019000	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr2:100006200-100019800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:100006200-100023600	Strong transcription	Fetal Thymus	thymus
32	chr2:100006200-100028600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr2:100006200-100046400	Strong transcription	Primary B cells from peripheral blood	blood
34	chr2:100006200-100051400	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr2:100006400-100016400	Strong transcription	A549	lung
36	chr2:100006400-100019400	Strong transcription	Osteobl	bone
37	chr2:100006400-100020200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr2:100006400-100022600	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr2:100006400-100023000	Strong transcription	Primary hematopoietic stem cells	blood
40	chr2:100006400-100034200	Strong transcription	Fetal Brain Female	brain
41	chr2:100006400-100046600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr2:100006600-100013600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr2:100006600-100013800	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr2:100006600-100015000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr2:100006600-100019000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
46	chr2:100006600-100019400	Strong transcription	Fetal Intestine Large	intestine
47	chr2:100006600-100019600	Strong transcription	H1 Cell Line	embryonic stem cell
48	chr2:100006600-100019600	Strong transcription	Duodenum Mucosa	Duodenum
49	chr2:100006600-100020600	Strong transcription	Placenta	Placenta
50	chr2:100006600-100020800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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