Variant report

Variant	rs1913691
Chromosome Location	chr12:45702335-45702336
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:45701919..45704723-chr12:45708246..45711469,3	K562	blood:
2	chr12:45701143..45702936-chr12:46121606..46123908,2	K562	blood:
3	chr12:45698045..45699853-chr12:45702122..45704712,2	K562	blood:
4	chr12:45700222..45702386-chr12:45704412..45706326,2	K562	blood:

Variant related genes	Relation type
ENSG00000189079	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1004598	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1019584	0.94[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10748417	0.95[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10748418	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs10748420	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10785559	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10785565	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs10785568	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs10880767	0.90[AMR][1000 genomes]
rs10880773	0.89[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11182971	0.90[AMR][1000 genomes]
rs1238407	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1862907	0.90[AMR][1000 genomes]
rs1877972	0.90[AMR][1000 genomes]
rs1896027	0.80[YRI][hapmap];0.88[AFR][1000 genomes]
rs2037855	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4140756	1.00[AMR][1000 genomes]
rs4489808	0.87[AFR][1000 genomes]
rs4768087	0.81[YRI][hapmap];0.86[AFR][1000 genomes]
rs4768604	0.90[AMR][1000 genomes]
rs6582542	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs6582543	0.90[AMR][1000 genomes]
rs7135029	0.80[YRI][hapmap];0.86[AFR][1000 genomes]
rs7953360	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7960422	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7970250	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7970619	0.90[AMR][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	nsv1050923	chr12:45581310-45808289	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv690	chr12:45674127-45718859	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
3	nsv826357	chr12:45691091-45740769	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45654400-45725600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:45666200-45709200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr12:45674200-45706800	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr12:45675800-45709000	Weak transcription	Lung	lung
5	chr12:45676400-45740400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr12:45680000-45736800	Weak transcription	Fetal Intestine Small	intestine
7	chr12:45683600-45709400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr12:45684400-45721800	Weak transcription	Esophagus	oesophagus
9	chr12:45686200-45707000	Weak transcription	Primary B cells from cord blood	blood
10	chr12:45691000-45708600	Weak transcription	Stomach Mucosa	stomach
11	chr12:45691000-45708800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr12:45692400-45709000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr12:45692400-45721200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr12:45692800-45707000	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr12:45693000-45707400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:45693000-45744000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr12:45693200-45703600	Weak transcription	HSMM	muscle
18	chr12:45693200-45708800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr12:45693200-45725400	Weak transcription	Fetal Kidney	kidney
20	chr12:45693400-45702400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr12:45693600-45703000	Weak transcription	NHLF	lung
22	chr12:45693600-45703000	Weak transcription	Osteobl	bone
23	chr12:45693600-45707000	Weak transcription	Fetal Muscle Trunk	muscle
24	chr12:45693600-45707600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr12:45693600-45709000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr12:45693600-45730600	Weak transcription	NH-A	brain
27	chr12:45693800-45721800	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr12:45695200-45741800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr12:45696000-45702600	Strong transcription	Fetal Thymus	thymus
30	chr12:45696200-45708600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr12:45696400-45736600	Weak transcription	HepG2	liver
32	chr12:45696600-45708600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr12:45696800-45721800	Weak transcription	HMEC	breast
34	chr12:45697000-45702400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr12:45697400-45702600	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr12:45697400-45709000	Weak transcription	Small Intestine	intestine
37	chr12:45698000-45709000	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr12:45698000-45744400	Weak transcription	Fetal Brain Male	brain
39	chr12:45698200-45708600	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr12:45698200-45710000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr12:45698400-45708800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr12:45698800-45709000	Weak transcription	Fetal Stomach	stomach
43	chr12:45698800-45710000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr12:45698800-45726000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr12:45698800-45726000	Weak transcription	Placenta	Placenta
46	chr12:45699000-45703200	Weak transcription	HSMMtube	muscle
47	chr12:45699000-45703400	Weak transcription	GM12878-XiMat	blood
48	chr12:45699000-45703600	Weak transcription	Brain Anterior Caudate	brain
49	chr12:45699000-45703600	Weak transcription	A549	lung
50	chr12:45699000-45704000	Weak transcription	Brain Inferior Temporal Lobe	brain

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