Variant report

Variant	rs1975109
Chromosome Location	chr11:72519217-72519218
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:72490003..72493146-chr11:72517382..72520006,3	MCF-7	breast:
2	chr11:72492462..72497657-chr11:72516584..72520284,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000214530	Chromatin interaction
ENSG00000265064	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1000620	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10431171	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10431172	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10431174	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10751213	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10751215	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10751216	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10898877	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10898879	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10898880	0.99[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11235592	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11235594	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11235596	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1864653	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35343925	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35668754	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35752694	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4459331	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4459332	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs485099	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4944796	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4944797	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4944800	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4944802	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4944805	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6592486	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6592489	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6592490	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs677231	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7110719	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7952617	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1975109	STARD10	cis	Whole Blood	GTEx

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72505600-72523600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr11:72505800-72519400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr11:72505800-72519800	Weak transcription	Fetal Intestine Small	intestine
4	chr11:72505800-72520200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr11:72505800-72523000	Weak transcription	Fetal Muscle Trunk	muscle
6	chr11:72505800-72523600	Weak transcription	Stomach Mucosa	stomach
7	chr11:72506000-72519400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr11:72506000-72519400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:72506000-72519400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr11:72506000-72519400	Weak transcription	Brain Hippocampus Middle	brain
11	chr11:72506000-72519600	Weak transcription	HMEC	breast
12	chr11:72506000-72520000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr11:72506000-72520200	Weak transcription	Fetal Muscle Leg	muscle
14	chr11:72506000-72521800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr11:72506000-72522800	Weak transcription	Pancreas	Pancrea
16	chr11:72506000-72523200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr11:72506000-72523600	Weak transcription	Brain Angular Gyrus	brain
18	chr11:72506000-72523800	Weak transcription	Spleen	Spleen
19	chr11:72506200-72519400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:72506200-72523800	Weak transcription	Brain Anterior Caudate	brain
21	chr11:72506600-72519400	Weak transcription	NH-A	brain
22	chr11:72506600-72519600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr11:72506600-72520200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr11:72509800-72523800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr11:72509800-72523800	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr11:72510000-72520200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr11:72510000-72521600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr11:72510000-72521600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr11:72510000-72523600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr11:72510000-72523600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr11:72510000-72523800	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr11:72510000-72523800	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr11:72510200-72523800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr11:72510400-72520200	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr11:72510400-72523800	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr11:72512800-72520200	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr11:72513000-72523600	Weak transcription	Thymus	Thymus
38	chr11:72513800-72523800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr11:72515000-72519600	Weak transcription	Dnd41	blood
40	chr11:72515000-72520200	Weak transcription	Gastric	stomach
41	chr11:72515000-72523200	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr11:72515000-72523600	Weak transcription	Right Ventricle	heart
43	chr11:72515600-72519400	Weak transcription	Primary T cells from cord blood	blood
44	chr11:72515600-72519400	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr11:72515600-72519400	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr11:72515600-72523000	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr11:72515800-72519400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr11:72515800-72523200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr11:72516200-72519600	Weak transcription	NHEK	skin
50	chr11:72516200-72522800	Weak transcription	Left Ventricle	heart

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