Variant report

Variant	rs1864653
Chromosome Location	chr11:72503293-72503294
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:72502078..72507217-chr11:72523813..72527208,9	K562	blood:
2	chr11:72468127..72470186-chr11:72501930..72503488,2	K562	blood:
3	chr11:72487526..72509577-chr11:72522325..72536312,93	MCF-7	breast:
4	chr11:72503176..72507418-chr11:72523751..72527635,5	MCF-7	breast:
5	chr11:72502776..72504800-chr11:72523813..72526790,2	K562	blood:
6	chr11:72433323..72435429-chr11:72502768..72506514,3	K562	blood:
7	chr11:72462706..72465111-chr11:72501934..72505822,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000214530	Chromatin interaction
ENSG00000168010	Chromatin interaction
ENSG00000186635	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1000620	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10431171	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10431172	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10431174	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10751213	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10751215	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10751216	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10898877	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10898879	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10898880	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11235592	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11235594	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235596	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1975109	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35343925	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35668754	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35752694	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4459331	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4459332	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs485099	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4944796	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4944797	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4944800	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4944802	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4944805	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs519790	0.80[AFR][1000 genomes]
rs6592486	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6592489	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6592490	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs677231	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7110719	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7952617	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[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
rs1864653	STARD10	cis	Whole Blood	GTEx

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72493800-72503600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr11:72493800-72504200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:72493800-72504200	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr11:72494000-72503400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr11:72494000-72503600	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr11:72494000-72504400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr11:72494000-72504400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr11:72494200-72503400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr11:72498600-72503600	Weak transcription	Thymus	Thymus
10	chr11:72498800-72503800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr11:72498800-72504200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:72499000-72504000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr11:72499000-72504000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:72499000-72504400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr11:72499400-72503600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr11:72499400-72503600	Weak transcription	Fetal Thymus	thymus
17	chr11:72499400-72504400	Weak transcription	Pancreas	Pancrea
18	chr11:72499600-72503400	Weak transcription	Primary B cells from peripheral blood	blood
19	chr11:72499600-72503400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr11:72499600-72503400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr11:72499600-72503400	Weak transcription	Spleen	Spleen
22	chr11:72499600-72503600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr11:72499600-72503800	Weak transcription	Stomach Smooth Muscle	stomach
24	chr11:72499800-72503600	Weak transcription	Hela-S3	cervix
25	chr11:72500600-72503600	Weak transcription	Primary hematopoietic stem cells	blood
26	chr11:72500600-72504000	Enhancers	Fetal Brain Male	brain
27	chr11:72500800-72503400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr11:72500800-72504000	Weak transcription	Small Intestine	intestine
29	chr11:72500800-72504800	Weak transcription	Psoas Muscle	Psoas
30	chr11:72501000-72503400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr11:72501000-72503400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr11:72501000-72503400	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr11:72501000-72503400	Weak transcription	K562	blood
34	chr11:72501000-72503600	Weak transcription	Colonic Mucosa	Colon
35	chr11:72501000-72503600	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr11:72501000-72503600	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr11:72501000-72503600	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr11:72501000-72503800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr11:72501000-72503800	Weak transcription	Adipose Nuclei	Adipose
40	chr11:72501000-72504000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr11:72501000-72504000	Weak transcription	A549	lung
42	chr11:72501000-72504200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr11:72501000-72504600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr11:72501200-72503600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr11:72501200-72503600	Weak transcription	Duodenum Mucosa	Duodenum
46	chr11:72501200-72503600	Weak transcription	Fetal Lung	lung
47	chr11:72501200-72503800	Weak transcription	Fetal Stomach	stomach
48	chr11:72501200-72503800	Weak transcription	HSMM	muscle
49	chr11:72501200-72504800	Weak transcription	Gastric	stomach
50	chr11:72501400-72503400	Weak transcription	Brain Inferior Temporal Lobe	brain

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