Variant report

Variant	rs10743095
Chromosome Location	chr11:8936984-8936985
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:8934819..8937365-chr11:8941717..8944369,2	K562	blood:
2	chr11:8709217..8711333-chr11:8934595..8937178,2	MCF-7	breast:
3	chr11:8936222..8938105-chr11:8938810..8940330,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166441	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10743093	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10743096	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10769968	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10769970	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10769971	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10769973	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10769979	0.84[EUR][1000 genomes]
rs10769980	0.84[EUR][1000 genomes]
rs10769981	0.81[EUR][1000 genomes]
rs10840141	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10840142	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10840147	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10840148	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10840157	0.87[EUR][1000 genomes]
rs11042102	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11042103	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11042125	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11042152	0.84[EUR][1000 genomes]
rs11042154	0.80[EUR][1000 genomes]
rs1109305	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1560569	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1569408	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1883098	0.87[EUR][1000 genomes]
rs1988708	0.84[EUR][1000 genomes]
rs1988709	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2012696	0.87[EUR][1000 genomes]
rs2016942	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2568054	0.84[EUR][1000 genomes]
rs2568059	0.85[EUR][1000 genomes]
rs2568061	0.86[EUR][1000 genomes]
rs2568062	0.86[EUR][1000 genomes]
rs2568065	0.87[EUR][1000 genomes]
rs2653567	0.87[EUR][1000 genomes]
rs2653593	0.84[EUR][1000 genomes]
rs2653616	0.86[EUR][1000 genomes]
rs2742471	0.84[EUR][1000 genomes]
rs2742474	0.84[EUR][1000 genomes]
rs2742550	0.85[EUR][1000 genomes]
rs34842234	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs36192694	0.81[ASN][1000 genomes]
rs4909952	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4910119	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4910156	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4910157	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4910158	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4910200	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4929922	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7123861	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7479407	0.84[EUR][1000 genomes]
rs7484180	0.85[EUR][1000 genomes]
rs7925728	0.83[EUR][1000 genomes]
rs7930026	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758256	chr11:8784813-9009573	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv2759803	chr11:8784813-9009573	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv435923	chr11:8839325-9000602	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv832062	chr11:8849295-9009472	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv3413845	chr11:8887279-9285127	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10743095	AKIP1	cis	Thyroid	GTEx
rs10743095	TMEM9B-AS1	cis	lung	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8933400-8938000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:8933400-8947800	Weak transcription	Small Intestine	intestine
3	chr11:8933600-8938000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:8933600-8944000	Weak transcription	Pancreas	Pancrea
5	chr11:8934000-8938000	Weak transcription	Fetal Intestine Large	intestine
6	chr11:8934000-8941800	Weak transcription	Colonic Mucosa	Colon
7	chr11:8934000-8952200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr11:8934200-8937200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:8934200-8937800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr11:8934200-8938000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr11:8934200-8938400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr11:8934200-8941600	Weak transcription	Esophagus	oesophagus
13	chr11:8934200-8948800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr11:8934800-8939400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr11:8935000-8938200	Weak transcription	Psoas Muscle	Psoas
16	chr11:8935000-8940400	Genic enhancers	Fetal Muscle Leg	muscle
17	chr11:8935600-8937600	Weak transcription	Fetal Intestine Small	intestine
18	chr11:8935800-8940000	Weak transcription	Gastric	stomach
19	chr11:8936000-8938000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr11:8936000-8938000	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr11:8936000-8938000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr11:8936000-8938200	Weak transcription	Right Ventricle	heart
23	chr11:8936000-8938400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr11:8936000-8939600	Weak transcription	Fetal Brain Male	brain
25	chr11:8936000-8942800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr11:8936200-8937000	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr11:8936200-8937600	Strong transcription	Fetal Muscle Trunk	muscle
28	chr11:8936200-8938000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr11:8936200-8938000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr11:8936200-8938000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr11:8936200-8938000	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr11:8936200-8938200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:8936200-8938200	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr11:8936200-8938200	Weak transcription	Primary hematopoietic stem cells	blood
35	chr11:8936200-8939200	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr11:8936200-8945800	Weak transcription	Primary B cells from peripheral blood	blood
37	chr11:8936400-8937000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr11:8936400-8937600	Weak transcription	Left Ventricle	heart
39	chr11:8936400-8937800	Weak transcription	Placenta	Placenta
40	chr11:8936400-8937800	Weak transcription	NH-A	brain
41	chr11:8936400-8938000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr11:8936400-8938000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr11:8936400-8938000	Weak transcription	Osteobl	bone
44	chr11:8936400-8938200	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr11:8936400-8938200	Weak transcription	Brain Germinal Matrix	brain
46	chr11:8936400-8938200	Weak transcription	Duodenum Mucosa	Duodenum
47	chr11:8936400-8938800	Weak transcription	Primary B cells from cord blood	blood
48	chr11:8936400-8938800	Weak transcription	Aorta	Aorta
49	chr11:8936400-8941800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr11:8936400-8946000	Weak transcription	Pancreatic Islets	Pancreatic Islet

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