Variant report

Variant	rs12414849
Chromosome Location	chr10:91406233-91406234
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr10:91402981-91406341	SK-N-SH	brain:	n/a	n/a
2	USF2	chr10:91406130-91406291	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr10:91406039-91406306	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr10:91406100-91406250	HCPEpiC	choroid plexus:	n/a	n/a
5	TEAD4	chr10:91406105-91406287	H1-hESC	embryonic stem cell:	n/a	n/a
6	TAF1	chr10:91405978-91406299	H1-hESC	embryonic stem cell:	n/a	n/a
7	MYC	chr10:91403502-91406969	NB4	blood:	n/a	chr10:91405450-91405460
8	POLR2A	chr10:91403205-91406395	HepG2	liver:	n/a	n/a
9	POLR2A	chr10:91403274-91406350	H1-hESC	embryonic stem cell:	n/a	n/a
10	ARID3A	chr10:91404925-91406323	HepG2	liver:	n/a	n/a
11	ZNF263	chr10:91403315-91406487	HEK293-T-REx	kidney:	n/a	chr10:91403941-91403962
12	POLR2A	chr10:91403397-91406930	Raji	blood:	n/a	n/a
13	RFX5	chr10:91403034-91406412	SK-N-SH	brain:	n/a	chr10:91403791-91403800

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:91406004..91407517-chr10:91408220..91410152,2	K562	blood:
2	chr10:91403635..91406711-chr10:91457604..91462894,9	MCF-7	breast:
3	chr10:91371070..91374344-chr10:91402272..91406788,6	MCF-7	breast:
4	chr10:91401983..91406312-chr10:91459063..91463449,10	K562	blood:
5	chr10:91406096..91408385-chr10:91460120..91462527,2	K562	blood:
6	chr10:91395971..91398533-chr10:91405647..91407667,2	K562	blood:
7	chr10:91402715..91410625-chr10:91458897..91464646,18	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PANK1-1	chr10:91406046-91406303	XLOC_008896

No data

Variant related genes	Relation type
ENSG00000249962	TF binding region
PANK1	TF binding region
ENSG00000152782	Chromatin interaction
ENSG00000138182	Chromatin interaction
ENSG00000240996	Chromatin interaction
ENSG00000235100	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11593819	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11593892	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11594682	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11595126	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11597847	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11598015	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11598257	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12413697	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12414269	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12415422	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1326195	1.00[ASN][1000 genomes]
rs17484219	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2026553	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34354493	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4426060	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56318555	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7071258	1.00[ASN][1000 genomes]
rs72818732	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72818736	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72818740	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72818744	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72818750	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72818751	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72818757	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72818758	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72818759	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72818766	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72818768	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72818770	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72818773	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72818774	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72818781	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72818783	0.84[EUR][1000 genomes]
rs72818786	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72818790	1.00[ASN][1000 genomes]
rs72818792	1.00[ASN][1000 genomes]
rs728852	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs997456	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:91405000-91406400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
2	chr10:91405000-91406600	Flanking Active TSS	Duodenum Mucosa	Duodenum
3	chr10:91405200-91406400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
4	chr10:91405200-91406400	Flanking Active TSS	HepG2	liver
5	chr10:91405600-91406400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr10:91405600-91406400	Enhancers	Placenta	Placenta
7	chr10:91405600-91406400	Enhancers	Right Atrium	heart
8	chr10:91405600-91406400	Enhancers	Right Ventricle	heart
9	chr10:91405600-91406600	Enhancers	Psoas Muscle	Psoas
10	chr10:91405600-91407000	Enhancers	Primary B cells from peripheral blood	blood
11	chr10:91405600-91407200	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr10:91405600-91408000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr10:91405800-91406400	Enhancers	H1 Cell Line	embryonic stem cell
14	chr10:91405800-91406400	Enhancers	H9 Cell Line	embryonic stem cell
15	chr10:91405800-91406600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr10:91405800-91406600	Enhancers	Primary hematopoietic stem cells	blood
17	chr10:91405800-91406800	Enhancers	Primary B cells from cord blood	blood
18	chr10:91405800-91406800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr10:91405800-91406800	Enhancers	Stomach Mucosa	stomach
20	chr10:91405800-91407200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr10:91405800-91407200	Enhancers	Fetal Muscle Leg	muscle
22	chr10:91405800-91408200	Enhancers	Fetal Stomach	stomach
23	chr10:91405800-91408400	Enhancers	Fetal Lung	lung
24	chr10:91405800-91409800	Weak transcription	Pancreas	Pancrea
25	chr10:91405800-91411000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr10:91406000-91406400	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr10:91406000-91406400	Flanking Active TSS	Colonic Mucosa	Colon
28	chr10:91406000-91406400	Enhancers	Stomach Smooth Muscle	stomach
29	chr10:91406000-91406600	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr10:91406000-91406600	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr10:91406000-91406600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr10:91406000-91406600	Enhancers	Liver	Liver
33	chr10:91406000-91406600	Enhancers	Fetal Kidney	kidney
34	chr10:91406000-91406800	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr10:91406000-91406800	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr10:91406000-91406800	Active TSS	Rectal Smooth Muscle	rectum
37	chr10:91406000-91406800	Enhancers	Dnd41	blood
38	chr10:91406000-91407000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr10:91406000-91407000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr10:91406000-91407000	Enhancers	GM12878-XiMat	blood
41	chr10:91406000-91407200	Weak transcription	NHLF	lung
42	chr10:91406000-91407800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr10:91406000-91408200	Enhancers	Fetal Intestine Large	intestine
44	chr10:91406000-91408200	Enhancers	Fetal Intestine Small	intestine
45	chr10:91406000-91409000	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr10:91406000-91409200	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr10:91406000-91411400	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr10:91406200-91406400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr10:91406200-91406400	Enhancers	Fetal Brain Female	brain
50	chr10:91406200-91406400	Enhancers	Hela-S3	cervix

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