Variant report

Variant	rs11689320
Chromosome Location	chr2:20246076-20246077
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:20239886..20242737-chr2:20245046..20246984,2	K562	blood:
2	chr2:20243842..20246309-chr2:20264412..20267359,3	MCF-7	breast:
3	chr2:20243160..20246109-chr2:20246463..20248277,2	K562	blood:
4	chr2:20235025..20246171-chr2:20248104..20254249,17	MCF-7	breast:
5	chr2:20240719..20242263-chr2:20244475..20246120,2	MCF-7	breast:
6	chr2:20245350..20248152-chr2:20271740..20273553,2	MCF-7	breast:
7	chr2:20208585..20211284-chr2:20244401..20247153,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000223734	Chromatin interaction
ENSG00000068697	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1016316	0.93[EUR][1000 genomes]
rs11694170	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11695154	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1191805	0.85[EUR][1000 genomes]
rs1191817	0.85[EUR][1000 genomes]
rs12988954	0.81[ASN][1000 genomes]
rs1473887	0.82[AMR][1000 genomes]
rs1473890	0.93[EUR][1000 genomes]
rs1513830	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1513831	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16987338	0.95[EUR][1000 genomes]
rs34539547	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs36071721	0.92[EUR][1000 genomes]
rs3731673	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3769759	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3769760	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3769762	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62109431	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6706375	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6720508	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7558777	0.91[EUR][1000 genomes]
rs7558988	0.89[EUR][1000 genomes]
rs7570360	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7587612	0.95[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11689320	AC098828.2	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20221400-20249800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:20230600-20248000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:20234800-20248200	Weak transcription	Psoas Muscle	Psoas
4	chr2:20235000-20248000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:20235400-20247400	Weak transcription	Fetal Brain Male	brain
6	chr2:20236600-20248000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr2:20236800-20246600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:20237800-20249000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr2:20238000-20248200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr2:20238600-20248800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr2:20238800-20247800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr2:20240600-20247800	Weak transcription	HSMMtube	muscle
13	chr2:20240600-20247800	Weak transcription	NHLF	lung
14	chr2:20240600-20248000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr2:20240600-20248200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:20240600-20248200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:20240600-20248200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr2:20240600-20248200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr2:20240600-20248200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr2:20240600-20249200	Weak transcription	Colonic Mucosa	Colon
21	chr2:20240600-20249800	Weak transcription	Gastric	stomach
22	chr2:20240800-20246800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:20240800-20247600	Weak transcription	HMEC	breast
24	chr2:20240800-20248000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr2:20240800-20248000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr2:20240800-20248000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr2:20240800-20248000	Weak transcription	Fetal Kidney	kidney
28	chr2:20240800-20248200	Weak transcription	Brain Germinal Matrix	brain
29	chr2:20240800-20248400	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr2:20240800-20248400	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr2:20240800-20248400	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr2:20240800-20248400	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr2:20240800-20249000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr2:20240800-20249400	Weak transcription	Placenta	Placenta
35	chr2:20241000-20247800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr2:20241000-20249000	Weak transcription	Fetal Thymus	thymus
37	chr2:20241200-20247200	Enhancers	Ovary	ovary
38	chr2:20241200-20247600	Weak transcription	HSMM	muscle
39	chr2:20241400-20247600	Weak transcription	GM12878-XiMat	blood
40	chr2:20241400-20247600	Weak transcription	NHEK	skin
41	chr2:20241400-20248000	Weak transcription	A549	lung
42	chr2:20241400-20248200	Weak transcription	Dnd41	blood
43	chr2:20241400-20248600	Weak transcription	Thymus	Thymus
44	chr2:20241400-20249600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr2:20241600-20246200	Weak transcription	Fetal Stomach	stomach
46	chr2:20241600-20247600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr2:20241600-20247600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr2:20241600-20248800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr2:20241600-20250400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr2:20242000-20247600	Weak transcription	Rectal Mucosa Donor 29	rectum

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