Variant report

Variant	rs1011319
Chromosome Location	chr1:225597846-225597847
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:225597628-225599700	K562	blood:	n/a	n/a
2	POLR2A	chr1:225597821-225597878	MCF-7	breast:	n/a	n/a
3	POLR2A	chr1:225592461-225603516	K562	blood:	n/a	n/a
4	POLR2A	chr1:225597698-225598393	HL-60	blood:	n/a	n/a
5	POLR2A	chr1:225597649-225598401	HL-60	blood:	n/a	n/a
6	POLR2A	chr1:225597768-225598018	K562	blood:	n/a	n/a
7	POLR2A	chr1:225597837-225597964	GM12878	blood:	n/a	n/a
8	POLR2A	chr1:225597557-225598837	K562	blood:	n/a	n/a
9	POLR2A	chr1:225597673-225598490	K562	blood:	n/a	n/a
10	ZNF263	chr1:225597701-225598270	HEK293-T-REx	kidney:	n/a	chr1:225597815-225597836
11	POLR2A	chr1:225597763-225598360	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000203691	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10799306	0.82[AMR][1000 genomes]
rs10915816	1.00[CEU][hapmap]
rs11551874	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11799479	0.82[AMR][1000 genomes]
rs12066771	0.90[ASN][1000 genomes]
rs17557867	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2230419	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3766929	0.81[CEU][hapmap];0.82[AMR][1000 genomes]
rs4576637	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap]
rs4653635	0.92[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4999299	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6702433	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7406	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7551643	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap]
rs9783086	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832714	chr1:225592333-225805396	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 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	chr1:225570800-225600000	Weak transcription	HSMMtube	muscle
2	chr1:225578000-225599200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:225580800-225599200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:225582200-225610400	Strong transcription	Fetal Thymus	thymus
5	chr1:225583400-225598000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:225583400-225601600	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr1:225583400-225601600	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr1:225583400-225601800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr1:225583600-225602200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr1:225583800-225601600	Strong transcription	Primary B cells from cord blood	blood
11	chr1:225584000-225603800	Weak transcription	Psoas Muscle	Psoas
12	chr1:225584200-225610600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:225584400-225600600	Weak transcription	Stomach Mucosa	stomach
14	chr1:225584800-225609800	Strong transcription	Dnd41	blood
15	chr1:225584800-225610400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:225585000-225609800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr1:225585000-225609800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:225585000-225609800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:225585000-225610400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:225585200-225609800	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr1:225585800-225610000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr1:225585800-225610000	Strong transcription	K562	blood
23	chr1:225585800-225610400	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr1:225586000-225601400	Strong transcription	Primary B cells from peripheral blood	blood
25	chr1:225586000-225607000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr1:225587000-225601000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr1:225587400-225598200	Weak transcription	Fetal Heart	heart
28	chr1:225587600-225607000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr1:225587600-225607800	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr1:225587800-225610000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr1:225588200-225600600	Strong transcription	Rectal Mucosa Donor 31	rectum
32	chr1:225588200-225605400	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr1:225588200-225608200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr1:225588200-225610200	Strong transcription	Osteobl	bone
35	chr1:225588400-225604200	Strong transcription	HUVEC	blood vessel
36	chr1:225588600-225608400	Strong transcription	Hela-S3	cervix
37	chr1:225588600-225609800	Strong transcription	Primary T helper cells PMA-I stimulated	--
38	chr1:225589000-225607400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr1:225589200-225599200	Weak transcription	Small Intestine	intestine
40	chr1:225589600-225601000	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr1:225590200-225610000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr1:225590600-225607200	Strong transcription	Primary T cells from cord blood	blood
43	chr1:225590600-225607400	Strong transcription	Thymus	Thymus
44	chr1:225590600-225607800	Strong transcription	Fetal Muscle Leg	muscle
45	chr1:225590600-225608400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr1:225590800-225608200	Strong transcription	Fetal Muscle Trunk	muscle
47	chr1:225591000-225601400	Strong transcription	Lung	lung
48	chr1:225591000-225604000	Strong transcription	Fetal Stomach	stomach
49	chr1:225591800-225608200	Strong transcription	Brain Germinal Matrix	brain
50	chr1:225592800-225607400	Strong transcription	Primary hematopoietic stem cells	blood

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