Variant report

Variant	rs10431174
Chromosome Location	chr11:72513169-72513170
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:72488704..72491459-chr11:72512164..72514082,2	K562	blood:
2	chr11:72489968..72493476-chr11:72512494..72515614,3	MCF-7	breast:
3	chr11:72509209..72510815-chr11:72511215..72514128,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000214530	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1000620	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10431171	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10431172	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10751213	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10751215	0.86[AMR][1000 genomes]
rs10751216	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10898877	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10898879	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10898880	0.87[AMR][1000 genomes]
rs11235592	0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11235594	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11235596	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1864653	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1975109	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35343925	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35668754	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35752694	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4459331	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4459332	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs485099	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4944796	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4944797	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4944800	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4944802	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4944805	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6592486	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6592489	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6592490	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs677231	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7110719	0.80[ASN][1000 genomes]
rs7952617	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][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	esv1806140	chr11:72268466-72546175	Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	77 gene(s)	inside rSNPs	diseases
2	esv3394774	chr11:72320884-72694077	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv825992	chr11:72476174-72524295	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72505600-72523600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr11:72505800-72519200	Weak transcription	GM12878-XiMat	blood
3	chr11:72505800-72519400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr11:72505800-72519800	Weak transcription	Fetal Intestine Small	intestine
5	chr11:72505800-72520200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr11:72505800-72523000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr11:72505800-72523600	Weak transcription	Stomach Mucosa	stomach
8	chr11:72506000-72516400	Weak transcription	Primary B cells from cord blood	blood
9	chr11:72506000-72518800	Weak transcription	Fetal Stomach	stomach
10	chr11:72506000-72519400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr11:72506000-72519400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr11:72506000-72519400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr11:72506000-72519400	Weak transcription	Brain Hippocampus Middle	brain
14	chr11:72506000-72519600	Weak transcription	HMEC	breast
15	chr11:72506000-72520000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr11:72506000-72520200	Weak transcription	Fetal Muscle Leg	muscle
17	chr11:72506000-72521800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr11:72506000-72522800	Weak transcription	Pancreas	Pancrea
19	chr11:72506000-72523200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr11:72506000-72523600	Weak transcription	Brain Angular Gyrus	brain
21	chr11:72506000-72523800	Weak transcription	Spleen	Spleen
22	chr11:72506200-72519400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:72506200-72523800	Weak transcription	Brain Anterior Caudate	brain
24	chr11:72506600-72518400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr11:72506600-72519200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr11:72506600-72519200	Weak transcription	Placenta	Placenta
27	chr11:72506600-72519400	Weak transcription	NH-A	brain
28	chr11:72506600-72519600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr11:72506600-72520200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr11:72506800-72518200	Weak transcription	Hela-S3	cervix
31	chr11:72509200-72519200	Weak transcription	Adipose Nuclei	Adipose
32	chr11:72509800-72516000	Weak transcription	Primary hematopoietic stem cells	blood
33	chr11:72509800-72523800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr11:72509800-72523800	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr11:72510000-72516200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr11:72510000-72520200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr11:72510000-72521600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr11:72510000-72521600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr11:72510000-72523600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr11:72510000-72523600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr11:72510000-72523800	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr11:72510000-72523800	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr11:72510200-72514800	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr11:72510200-72523800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr11:72510400-72520200	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr11:72510400-72523800	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr11:72510600-72514600	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr11:72510600-72514800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr11:72510600-72514800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr11:72511000-72513800	Strong transcription	Primary neutrophils fromperipheralblood	blood

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