Variant report

Variant	rs4944796
Chromosome Location	chr11:72499000-72499001
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr11:72498337-72499226	K562	blood:	n/a	chr11:72498961-72498971 chr11:72498900-72498915
2	POLR2A	chr11:72498305-72499073	K562	blood:	n/a	n/a
3	MTA3	chr11:72498378-72499151	GM12878	blood:	n/a	n/a
4	ATF2	chr11:72498459-72499069	GM12878	blood:	n/a	n/a
5	NR2F2	chr11:72498056-72499348	K562	blood:	n/a	n/a
6	UBTF	chr11:72498266-72499216	K562	blood:	n/a	n/a
7	ELF1	chr11:72498182-72499082	GM12878	blood:	n/a	chr11:72498292-72498303
8	MYC	chr11:72498312-72499521	K562	blood:	n/a	n/a
9	ZMIZ1	chr11:72498331-72499004	K562	blood:	n/a	n/a
10	MAZ	chr11:72498205-72499146	K562	blood:	n/a	n/a
11	RELA	chr11:72498166-72499033	GM12891	blood:	n/a	n/a
12	ELF1	chr11:72498249-72499047	K562	blood:	n/a	chr11:72498292-72498303
13	MAZ	chr11:72498794-72499006	GM12878	blood:	n/a	n/a
14	TBP	chr11:72498331-72499529	K562	blood:	n/a	n/a
15	POLR2A	chr11:72498165-72499063	HL-60	blood:	n/a	n/a
16	RUNX3	chr11:72498063-72499163	GM12878	blood:	n/a	n/a
17	NFIC	chr11:72498660-72499263	GM12878	blood:	n/a	n/a
18	RUNX3	chr11:72498020-72499360	GM12878	blood:	n/a	n/a
19	TBL1XR1	chr11:72498841-72499103	K562	blood:	n/a	n/a
20	PML	chr11:72498170-72499326	GM12878	blood:	n/a	n/a
21	EBF1	chr11:72498702-72499019	GM12878	blood:	n/a	n/a
22	SPI1	chr11:72497930-72499179	HL-60	blood:	n/a	chr11:72498921-72498934 chr11:72498293-72498300 chr11:72498292-72498301
23	EP300	chr11:72498387-72499094	K562	blood:	n/a	chr11:72498905-72498914
24	FOXM1	chr11:72498257-72499010	GM12878	blood:	n/a	n/a
25	CBX3	chr11:72498085-72499010	K562	blood:	n/a	n/a
26	SPI1	chr11:72498758-72499017	GM12878	blood:	n/a	chr11:72498921-72498934
27	STAT5A	chr11:72498439-72499304	GM12878	blood:	n/a	chr11:72498779-72498791
28	MAX	chr11:72498308-72499496	K562	blood:	n/a	n/a
29	RCOR1	chr11:72498225-72499496	K562	blood:	n/a	n/a
30	RCOR1	chr11:72498677-72499283	K562	blood:	n/a	n/a
31	POLR2A	chr11:72498997-72499043	HepG2	liver:	n/a	n/a
32	JUND	chr11:72498260-72499159	K562	blood:	n/a	chr11:72498960-72498970
33	POLR2A	chr11:72498346-72499176	K562	blood:	n/a	n/a
34	NFIC	chr11:72498642-72499047	GM12878	blood:	n/a	n/a
35	MTA3	chr11:72498188-72499577	GM12878	blood:	n/a	n/a
36	MAFF	chr11:72498838-72499048	K562	blood:	n/a	n/a
37	BHLHE40	chr11:72498292-72499556	K562	blood:	n/a	n/a
38	MYC	chr11:72498804-72499006	NB4	blood:	n/a	n/a
39	POLR2A	chr11:72498328-72499011	K562	blood:	n/a	n/a
40	EBF1	chr11:72498785-72499009	GM12878	blood:	n/a	n/a
41	ZEB1	chr11:72496948-72499159	HepG2	liver:	n/a	chr11:72498543-72498551 chr11:72498471-72498480
42	POLR2A	chr11:72498151-72499574	K562	blood:	n/a	n/a
43	CTCF	chr11:72498900-72499050	GM12865	blood:	n/a	n/a
44	POLR2A	chr11:72498166-72499573	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:72498324..72499997-chr11:72526151..72527916,2	K562	blood:
2	chr11:72487526..72509577-chr11:72522325..72536312,93	MCF-7	breast:
3	chr11:72467563..72470218-chr11:72497187..72500008,4	K562	blood:
4	chr11:72498256..72500264-chr11:72897078..72899164,2	MCF-7	breast:
5	chr11:72490152..72495824-chr11:72496679..72500356,10	K562	blood:
6	chr11:72459780..72464369-chr11:72496820..72501695,6	MCF-7	breast:

Variant related genes	Relation type
STARD10	TF binding region
ENSG00000186635	Chromatin interaction
ENSG00000265064	Chromatin interaction
ENSG00000214530	Chromatin interaction
ENSG00000168010	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1000620	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10431171	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10431172	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10431174	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10751213	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10751215	0.95[CEU][hapmap];0.90[JPT][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10751216	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10898877	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10898879	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10898880	0.95[CEU][hapmap];0.85[YRI][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10898881	0.90[JPT][hapmap]
rs11235592	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235594	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11235596	0.95[CEU][hapmap];0.96[CHB][hapmap];0.85[JPT][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1864653	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1975109	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35343925	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35668754	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35752694	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4459331	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4459332	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs485099	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4944797	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4944800	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4944802	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4944805	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs519790	0.87[YRI][hapmap];0.80[AFR][1000 genomes]
rs6592486	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6592489	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6592490	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs677231	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.97[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7110719	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7952617	0.89[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
rs4944796	STARD10	cis	Whole Blood	GTEx

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72493400-72499200	Weak transcription	Hela-S3	cervix
2	chr11:72493400-72500200	Weak transcription	Osteobl	bone
3	chr11:72493600-72499000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr11:72493600-72499200	Weak transcription	Left Ventricle	heart
5	chr11:72493600-72500400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:72493600-72502400	Enhancers	Stomach Mucosa	stomach
7	chr11:72493800-72499000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr11:72493800-72499400	Weak transcription	Right Ventricle	heart
9	chr11:72493800-72500400	Weak transcription	A549	lung
10	chr11:72493800-72500600	Weak transcription	Brain Substantia Nigra	brain
11	chr11:72493800-72501200	Enhancers	Duodenum Mucosa	Duodenum
12	chr11:72493800-72503200	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr11:72493800-72503600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr11:72493800-72504200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:72493800-72504200	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr11:72494000-72500000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:72494000-72500200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr11:72494000-72500200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr11:72494000-72500400	Weak transcription	Brain Angular Gyrus	brain
20	chr11:72494000-72503400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr11:72494000-72503600	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr11:72494000-72504400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr11:72494000-72504400	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr11:72494200-72501800	Enhancers	Fetal Intestine Large	intestine
25	chr11:72494200-72503400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr11:72494600-72499800	Enhancers	Colonic Mucosa	Colon
27	chr11:72494600-72500200	Weak transcription	Brain Cingulate Gyrus	brain
28	chr11:72494800-72500200	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr11:72495000-72500600	Weak transcription	Fetal Brain Male	brain
30	chr11:72496000-72501400	Enhancers	Placenta	Placenta
31	chr11:72496800-72499400	Enhancers	Pancreas	Pancrea
32	chr11:72496800-72499600	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr11:72497000-72499600	Enhancers	Fetal Lung	lung
34	chr11:72497000-72499800	Enhancers	Lung	lung
35	chr11:72497000-72501200	Enhancers	Gastric	stomach
36	chr11:72497200-72499400	Enhancers	Fetal Thymus	thymus
37	chr11:72497200-72499600	Enhancers	Primary B cells from peripheral blood	blood
38	chr11:72497200-72500800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr11:72497200-72501200	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr11:72497400-72499200	Flanking Active TSS	HepG2	liver
41	chr11:72497400-72499400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr11:72497400-72500000	Enhancers	Primary hematopoietic stem cells	blood
43	chr11:72497400-72500400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr11:72497600-72499000	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr11:72497600-72499200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr11:72497600-72499400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr11:72497600-72499400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
48	chr11:72497600-72499600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr11:72497600-72499600	Enhancers	Spleen	Spleen
50	chr11:72497800-72499000	Enhancers	H1 Cell Line	embryonic stem cell

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