Variant report

Variant	rs35343925
Chromosome Location	chr11:72523349-72523350
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:72523148-72527053	IMR90	lung:	n/a	n/a
2	POLR2A	chr11:72523216-72526210	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:72490395..72495168-chr11:72521187..72527739,13	MCF-7	breast:
2	chr11:72474113..72475649-chr11:72522703..72524985,2	MCF-7	breast:
3	chr11:72507503..72509715-chr11:72521788..72523914,2	MCF-7	breast:
4	chr11:72487526..72509577-chr11:72522325..72536312,93	MCF-7	breast:
5	chr11:72460411..72465058-chr11:72522153..72526935,8	MCF-7	breast:
6	chr11:72509949..72511475-chr11:72523003..72524879,2	MCF-7	breast:

No data

Variant related genes	Relation type
ATG16L2	TF binding region
ENSG00000265064	Chromatin interaction
ENSG00000214530	Chromatin interaction
ENSG00000186635	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	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10431171	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10431172	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10431174	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10751213	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10751215	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10751216	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10898877	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10898879	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10898880	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11235592	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11235594	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11235596	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1864653	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1975109	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35668754	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35752694	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4459331	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4459332	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs485099	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4944796	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4944797	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4944800	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4944802	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4944805	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6592486	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6592489	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6592490	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs677231	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7110719	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7952617	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[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
rs35343925	STARD10	cis	Whole Blood	GTEx

Chromatin state (count:121 , 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	chr11:72505800-72523600	Weak transcription	Stomach Mucosa	stomach
3	chr11:72506000-72523600	Weak transcription	Brain Angular Gyrus	brain
4	chr11:72506000-72523800	Weak transcription	Spleen	Spleen
5	chr11:72506200-72523800	Weak transcription	Brain Anterior Caudate	brain
6	chr11:72509800-72523800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr11:72509800-72523800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr11:72510000-72523600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr11:72510000-72523600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr11:72510000-72523800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr11:72510000-72523800	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr11:72510200-72523800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr11:72510400-72523800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr11:72513000-72523600	Weak transcription	Thymus	Thymus
15	chr11:72513800-72523800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr11:72515000-72523600	Weak transcription	Right Ventricle	heart
17	chr11:72516400-72523600	Weak transcription	Esophagus	oesophagus
18	chr11:72517200-72523600	Weak transcription	Right Atrium	heart
19	chr11:72517200-72523800	Weak transcription	Aorta	Aorta
20	chr11:72517800-72523600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr11:72517800-72523600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr11:72518000-72523600	Weak transcription	Fetal Lung	lung
23	chr11:72518200-72523600	Weak transcription	Colonic Mucosa	Colon
24	chr11:72518400-72523600	Weak transcription	NHLF	lung
25	chr11:72518600-72523800	Weak transcription	Ovary	ovary
26	chr11:72519000-72523600	Weak transcription	K562	blood
27	chr11:72519400-72523600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr11:72519400-72523600	Weak transcription	Liver	Liver
29	chr11:72519400-72523600	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr11:72519400-72523800	Weak transcription	Fetal Brain Female	brain
31	chr11:72519600-72523600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr11:72519800-72523600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr11:72519800-72523600	Weak transcription	Primary B cells from peripheral blood	blood
34	chr11:72519800-72523600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr11:72519800-72523600	Weak transcription	Adipose Nuclei	Adipose
36	chr11:72519800-72523600	Weak transcription	Brain Cingulate Gyrus	brain
37	chr11:72519800-72523600	Weak transcription	Brain Substantia Nigra	brain
38	chr11:72519800-72523600	Weak transcription	Fetal Kidney	kidney
39	chr11:72519800-72523600	Weak transcription	HSMMtube	muscle
40	chr11:72519800-72523800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr11:72520600-72523600	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr11:72520600-72523600	Weak transcription	Fetal Intestine Large	intestine
43	chr11:72520600-72523600	Weak transcription	Fetal Muscle Leg	muscle
44	chr11:72520600-72523600	Weak transcription	Placenta	Placenta
45	chr11:72520600-72523600	Weak transcription	NH-A	brain
46	chr11:72520600-72523800	Weak transcription	Gastric	stomach
47	chr11:72520800-72523600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr11:72520800-72523600	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr11:72520800-72523800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr11:72521000-72523600	Weak transcription	Skeletal Muscle Male	skeletal muscle

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