Variant report

Variant	rs11197861
Chromosome Location	chr10:118734346-118734347
allele	C/T
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	NFIC	chr10:118733799-118734652	ECC-1	luminal epithelium:	n/a	n/a
2	JUND	chr10:118734155-118734479	A549	lung:	n/a	chr10:118734382-118734393 chr10:118734383-118734392 chr10:118734385-118734392 chr10:118734382-118734394
3	CEBPB	chr10:118734246-118734629	ECC-1	luminal epithelium:	n/a	chr10:118734481-118734492 chr10:118734479-118734492 chr10:118734481-118734492 chr10:118734479-118734490 chr10:118734479-118734492
4	MYC	chr10:118734003-118734592	MCF10A-Er-Src	breast:	n/a	n/a
5	CEBPB	chr10:118733659-118734676	Hela-S3	cervix:	n/a	chr10:118734481-118734492 chr10:118734479-118734492 chr10:118734481-118734492 chr10:118734479-118734490 chr10:118734479-118734492
6	JUND	chr10:118734206-118734563	K562	blood:	n/a	chr10:118734382-118734393 chr10:118734383-118734392 chr10:118734385-118734392 chr10:118734382-118734394
7	CUX1	chr10:118734236-118734421	K562	blood:	n/a	n/a
8	RCOR1	chr10:118733930-118734580	Hela-S3	cervix:	n/a	n/a
9	FOSL2	chr10:118734033-118734626	SK-N-SH	brain:	n/a	chr10:118734383-118734392 chr10:118734385-118734392 chr10:118734382-118734394
10	CEBPB	chr10:118734289-118734584	K562	blood:	n/a	chr10:118734481-118734492 chr10:118734479-118734492 chr10:118734481-118734492 chr10:118734479-118734490 chr10:118734479-118734492
11	JUND	chr10:118733841-118734731	SK-N-SH	brain:	n/a	chr10:118734382-118734393 chr10:118734383-118734392 chr10:118734385-118734392 chr10:118734382-118734394 chr10:118734703-118734712
12	STAT3	chr10:118733933-118734592	MCF10A-Er-Src	breast:	n/a	chr10:118733954-118733962 chr10:118734271-118734283
13	JUND	chr10:118734089-118734638	Hela-S3	cervix:	n/a	chr10:118734382-118734393 chr10:118734383-118734392 chr10:118734385-118734392 chr10:118734382-118734394
14	USF2	chr10:118734202-118734490	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr10:118734075-118734545	SK-N-SH	brain:	n/a	n/a
16	FOS	chr10:118734102-118734562	Hela-S3	cervix:	n/a	chr10:118734418-118734429 chr10:118734383-118734392 chr10:118734385-118734392 chr10:118734382-118734394 chr10:118734382-118734393
17	EP300	chr10:118733779-118734637	Hela-S3	cervix:	n/a	chr10:118734480-118734494 chr10:118734383-118734392
18	FOSL2	chr10:118733773-118734752	SK-N-SH	brain:	n/a	chr10:118734383-118734392 chr10:118734385-118734392 chr10:118734382-118734394 chr10:118734703-118734712
19	JUND	chr10:118733761-118734752	SK-N-SH	brain:	n/a	chr10:118734382-118734393 chr10:118734383-118734392 chr10:118734385-118734392 chr10:118734382-118734394 chr10:118734703-118734712
20	FOS	chr10:118733909-118734637	MCF10A-Er-Src	breast:	n/a	chr10:118734418-118734429 chr10:118734383-118734392 chr10:118734385-118734392 chr10:118734382-118734394 chr10:118734382-118734393
21	TCF12	chr10:118733813-118734733	SK-N-SH	brain:	n/a	n/a
22	JUN	chr10:118733715-118734644	Hela-S3	cervix:	n/a	chr10:118734383-118734392 chr10:118734385-118734392 chr10:118734382-118734394
23	TCF12	chr10:118733509-118734709	ECC-1	luminal epithelium:	n/a	n/a
24	SP1	chr10:118734062-118734673	A549	lung:	n/a	chr10:118734276-118734285 chr10:118734275-118734285 chr10:118734275-118734289
25	FOS	chr10:118733933-118734705	MCF10A-Er-Src	breast:	n/a	chr10:118734418-118734429 chr10:118734383-118734392 chr10:118734385-118734392 chr10:118734382-118734394 chr10:118734382-118734393
26	MAFK	chr10:118734021-118734598	IMR90	lung:	n/a	n/a
27	FOSL2	chr10:118733982-118734674	A549	lung:	n/a	chr10:118734383-118734392 chr10:118734385-118734392 chr10:118734382-118734394
28	EP300	chr10:118734225-118734462	SK-N-SH_RA	brain:	n/a	chr10:118734383-118734392
29	GATA2	chr10:118733982-118734626	HUVEC	blood vessel:	n/a	chr10:118734382-118734391
30	PBX3	chr10:118733749-118734666	SK-N-SH	brain:	n/a	n/a
31	STAT3	chr10:118734284-118734569	MCF10A-Er-Src	breast:	n/a	n/a
32	GATA3	chr10:118733657-118734719	SK-N-SH	brain:	n/a	chr10:118734382-118734391
33	FOS	chr10:118733956-118734667	HUVEC	blood vessel:	n/a	chr10:118734418-118734429 chr10:118734383-118734392 chr10:118734385-118734392 chr10:118734382-118734394 chr10:118734382-118734393
34	TCF12	chr10:118733716-118734753	SK-N-SH	brain:	n/a	n/a
35	JUN	chr10:118734290-118734593	K562	blood:	n/a	chr10:118734383-118734392 chr10:118734385-118734392 chr10:118734382-118734394
36	JUND	chr10:118733829-118734762	SK-N-SH	brain:	n/a	chr10:118734382-118734393 chr10:118734383-118734392 chr10:118734385-118734392 chr10:118734382-118734394 chr10:118734703-118734712
37	STAT3	chr10:118733834-118734614	MCF10A-Er-Src	breast:	n/a	chr10:118733954-118733962 chr10:118734271-118734283
38	SIN3AK20	chr10:118733929-118734500	SK-N-SH	brain:	n/a	n/a
39	ZNF384	chr10:118734212-118734504	K562	blood:	n/a	n/a
40	TEAD4	chr10:118733915-118734672	SK-N-SH	brain:	n/a	n/a
41	EP300	chr10:118733698-118734790	SK-N-SH	brain:	n/a	chr10:118733753-118733767 chr10:118734480-118734494 chr10:118734383-118734392
42	POLR2A	chr10:118733895-118734597	HUVEC	blood vessel:	n/a	n/a
43	MAX	chr10:118734187-118734622	SK-N-SH	brain:	n/a	n/a
44	CEBPB	chr10:118733813-118734679	IMR90	lung:	n/a	chr10:118734481-118734492 chr10:118734479-118734492 chr10:118734481-118734492 chr10:118734479-118734490 chr10:118734479-118734492
45	JUN	chr10:118733948-118734607	HUVEC	blood vessel:	n/a	chr10:118734383-118734392 chr10:118734385-118734392 chr10:118734382-118734394
46	GATA3	chr10:118733736-118734696	SK-N-SH	brain:	n/a	chr10:118734382-118734391
47	PBX3	chr10:118733850-118734626	SK-N-SH	brain:	n/a	n/a
48	YY1	chr10:118734156-118734589	SK-N-SH	brain:	n/a	chr10:118734429-118734445
49	NFIC	chr10:118733400-118734730	ECC-1	luminal epithelium:	n/a	n/a
50	CEBPB	chr10:118734273-118734668	A549	lung:	n/a	chr10:118734481-118734492 chr10:118734479-118734492 chr10:118734481-118734492 chr10:118734479-118734490 chr10:118734479-118734492

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:118733918..118736031-chr10:118751270..118753941,2	MCF-7	breast:

Variant related genes	Relation type
KIAA1598	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11197863	0.81[EUR][1000 genomes]
rs1905539	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2101264	0.82[EUR][1000 genomes]
rs2257791	0.84[EUR][1000 genomes]
rs4751614	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4752018	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7083142	0.81[EUR][1000 genomes]
rs7902527	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7903295	0.81[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11197861	KIAA1598	cis	Whole Blood	GTEx

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:118652000-118736200	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr10:118699200-118740600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr10:118699200-118748200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr10:118700000-118736800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr10:118703400-118737000	Weak transcription	Aorta	Aorta
6	chr10:118703600-118740000	Weak transcription	Duodenum Mucosa	Duodenum
7	chr10:118703600-118752200	Weak transcription	Gastric	stomach
8	chr10:118708000-118735600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr10:118708200-118744000	Weak transcription	K562	blood
10	chr10:118708600-118736200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr10:118711000-118735600	Weak transcription	Pancreas	Pancrea
12	chr10:118711000-118739600	Weak transcription	Fetal Stomach	stomach
13	chr10:118711200-118740000	Weak transcription	Adipose Nuclei	Adipose
14	chr10:118721600-118764000	Weak transcription	Ovary	ovary
15	chr10:118723200-118740000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr10:118724000-118737800	Weak transcription	Lung	lung
17	chr10:118725200-118736800	Weak transcription	Fetal Intestine Large	intestine
18	chr10:118725200-118763000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr10:118725600-118740600	Weak transcription	Fetal Intestine Small	intestine
20	chr10:118726400-118735600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr10:118727600-118743400	Weak transcription	HepG2	liver
22	chr10:118728200-118735600	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr10:118728400-118735600	Weak transcription	Liver	Liver
24	chr10:118728600-118734800	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr10:118730400-118736800	Enhancers	Brain Cingulate Gyrus	brain
26	chr10:118730400-118736800	Enhancers	Brain Hippocampus Middle	brain
27	chr10:118730600-118734400	Enhancers	Brain Angular Gyrus	brain
28	chr10:118730600-118735200	Enhancers	Brain Substantia Nigra	brain
29	chr10:118730600-118739800	Enhancers	Fetal Brain Male	brain
30	chr10:118730800-118735600	Enhancers	Brain Anterior Caudate	brain
31	chr10:118731600-118736600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr10:118732000-118736000	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr10:118732000-118736400	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr10:118732200-118735000	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr10:118732200-118736400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr10:118732200-118738400	Weak transcription	HSMMtube	muscle
37	chr10:118732400-118735000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr10:118732800-118734800	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr10:118732800-118735000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr10:118732800-118735000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr10:118732800-118735000	Enhancers	HMEC	breast
42	chr10:118733000-118734600	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr10:118733000-118736000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr10:118733000-118736200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr10:118733200-118734400	Genic enhancers	A549	lung
46	chr10:118733200-118734600	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr10:118733200-118735000	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr10:118733200-118735000	Enhancers	NH-A	brain
49	chr10:118733200-118735200	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr10:118733400-118734400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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