Variant report

Variant	rs10992740
Chromosome Location	chr9:96213291-96213292
allele	A/G
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	TBP	chr9:96213111-96213386	GM12878	blood:	n/a	n/a
2	POLR2A	chr9:96213133-96214099	HepG2	liver:	n/a	n/a
3	MAX	chr9:96212517-96216356	A549	lung:	n/a	chr9:96212814-96212824
4	POLR2A	chr9:96213098-96215015	HL-60	blood:	n/a	n/a
5	TBL1XR1	chr9:96213249-96213358	K562	blood:	n/a	n/a
6	TAF1	chr9:96213275-96214077	H1-hESC	embryonic stem cell:	n/a	n/a
7	STAT5A	chr9:96213157-96213570	GM12878	blood:	n/a	n/a
8	MAZ	chr9:96213076-96214040	GM12878	blood:	n/a	n/a
9	POLR2A	chr9:96213063-96216221	Raji	blood:	n/a	n/a
10	STAT5A	chr9:96213059-96213616	GM12878	blood:	n/a	n/a
11	YY1	chr9:96213119-96215238	SK-N-SH	brain:	n/a	chr9:96214044-96214055 chr9:96214043-96214057 chr9:96215157-96215171 chr9:96214044-96214058 chr9:96213851-96213860 chr9:96214046-96214055 chr9:96213846-96213860
12	MAX	chr9:96212571-96213799	MCF-7	breast:	n/a	chr9:96212814-96212824
13	TBP	chr9:96212733-96216257	K562	blood:	n/a	n/a
14	YY1	chr9:96213235-96214970	HepG2	liver:	n/a	chr9:96214044-96214055 chr9:96214043-96214057 chr9:96214044-96214058 chr9:96213851-96213860 chr9:96214046-96214055 chr9:96213846-96213860
15	MAX	chr9:96212572-96214916	HepG2	liver:	n/a	chr9:96212814-96212824
16	POLR2A	chr9:96213046-96214809	K562	blood:	n/a	n/a
17	YY1	chr9:96213022-96215047	GM12878	blood:	n/a	chr9:96214044-96214055 chr9:96214043-96214057 chr9:96214044-96214058 chr9:96213851-96213860 chr9:96214046-96214055 chr9:96213846-96213860
18	CREB1	chr9:96212996-96214137	HepG2	liver:	n/a	n/a
19	POLR2A	chr9:96212631-96214052	GM12891	blood:	n/a	n/a
20	EP300	chr9:96213083-96213312	K562	blood:	n/a	n/a
21	MAX	chr9:96212679-96213392	H1-hESC	embryonic stem cell:	n/a	chr9:96212814-96212824
22	POLR2A	chr9:96212642-96214948	MCF10A-Er-Src	breast:	n/a	n/a
23	TAF1	chr9:96213285-96214934	HepG2	liver:	n/a	n/a
24	POLR2A	chr9:96213087-96214122	GM12878	blood:	n/a	n/a
25	GABPA	chr9:96213182-96214048	MCF-7	breast:	n/a	n/a
26	POLR2A	chr9:96213094-96214794	GM19099	blood:	n/a	n/a
27	WRNIP1	chr9:96212726-96213401	GM12878	blood:	n/a	n/a
28	POLR2A	chr9:96213045-96214952	GM12878	blood:	n/a	n/a
29	MAX	chr9:96213006-96214125	SK-N-SH	brain:	n/a	n/a
30	UBTF	chr9:96213254-96215502	K562	blood:	n/a	n/a
31	POLR2A	chr9:96213053-96214931	ECC-1	luminal epithelium:	n/a	n/a
32	POLR2A	chr9:96213097-96214931	MCF-7	breast:	n/a	n/a
33	HEY1	chr9:96213049-96214091	K562	blood:	n/a	n/a
34	RCOR1	chr9:96213093-96213432	GM12878	blood:	n/a	n/a
35	POLR2A	chr9:96213068-96213929	GM12878	blood:	n/a	n/a
36	POLR2A	chr9:96213002-96213402	GM12891	blood:	n/a	n/a
37	TAF1	chr9:96213067-96214088	K562	blood:	n/a	n/a
38	TBP	chr9:96213114-96214011	HepG2	liver:	n/a	n/a
39	YY1	chr9:96213050-96213865	H1-hESC	embryonic stem cell:	n/a	chr9:96213851-96213860 chr9:96213846-96213860
40	MAX	chr9:96212972-96214925	ECC-1	luminal epithelium:	n/a	n/a
41	POLR2A	chr9:96213084-96213300	H1-hESC	embryonic stem cell:	n/a	n/a
42	MYC	chr9:96212612-96216137	K562	blood:	n/a	chr9:96212814-96212824
43	RUNX3	chr9:96213038-96213743	GM12878	blood:	n/a	n/a
44	MAX	chr9:96213144-96213449	HepG2	liver:	n/a	n/a
45	POLR2A	chr9:96212686-96215378	NB4	blood:	n/a	n/a
46	MAX	chr9:96212979-96215010	MCF-7	breast:	n/a	n/a
47	MYC	chr9:96213117-96213347	K562	blood:	n/a	n/a
48	EP300	chr9:96213152-96214663	SK-N-SH	brain:	n/a	chr9:96213851-96213860 chr9:96213849-96213858
49	MYC	chr9:96212580-96214647	K562	blood:	n/a	chr9:96212814-96212824
50	POLR2A	chr9:96213017-96213932	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:96213158..96214882-chr9:96338001..96341678,3	K562	blood:
2	chr9:95708784..95711358-chr9:96213029..96214881,2	K562	blood:
3	chr5:140699114..140701458-chr9:96212553..96215118,2	MCF-7	breast:
4	chr9:96212024..96217170-chr9:96326121..96330116,7	MCF-7	breast:
5	chr9:96211528..96214948-chr9:96337573..96343441,10	MCF-7	breast:
6	chr9:95431480..95432991-chr9:96212383..96214894,2	MCF-7	breast:
7	chr9:96069590..96071864-chr9:96210674..96213644,2	MCF-7	breast:
8	chr9:96210381..96218248-chr9:96327402..96333234,10	MCF-7	breast:
9	chr9:95857571..95862229-chr9:96211597..96216359,5	K562	blood:
10	chr9:96196696..96199442-chr9:96211213..96213936,2	K562	blood:
11	chr9:96212967..96214736-chr9:96291128..96293396,2	MCF-7	breast:
12	chr11:57435199..57435913-chr9:96213260..96214133,2	Hela-S3	cervix:
13	chr9:96211603..96213302-chr9:96293389..96295575,2	MCF-7	breast:
14	chr11:843529..844337-chr9:96213113..96213884,2	Hela-S3	cervix:
15	chr17:57917246..57919859-chr9:96211459..96213785,2	MCF-7	breast:
16	chr9:95856800..95859803-chr9:96212504..96215667,3	MCF-7	breast:
17	chr9:91925154..91927939-chr9:96212965..96214710,2	K562	blood:
18	chr9:95820491..95823416-chr9:96211285..96213612,2	K562	blood:
19	chr9:96068198..96070765-chr9:96213243..96214998,2	MCF-7	breast:
20	chr9:96072987..96083429-chr9:96209751..96218385,15	MCF-7	breast:
21	chr1:145382535..145383246-chr9:96213034..96214021,2	Hela-S3	cervix:
22	chr1:209720785..209723139-chr9:96211827..96213695,2	MCF-7	breast:
23	chr9:95893830..95897202-chr9:96212872..96217148,4	MCF-7	breast:
24	chr9:96211672..96218862-chr9:96335264..96341672,16	MCF-7	breast:
25	chr8:91656166..91658679-chr9:96213011..96215220,2	MCF-7	breast:
26	chr19:35490178..35491130-chr9:96213088..96214069,2	Hela-S3	cervix:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM120AOS-3	chr9:96213227-96213396	NONHSAT133263
2	lnc-FAM120AOS-3	chr9:96213227-96213490	NONHSAT133261

Variant related genes	Relation type
FAM120A	TF binding region
FAM120AOS	TF binding region
ENSG00000224260	Chromatin interaction
ENSG00000263875	Chromatin interaction
ENSG00000127084	Chromatin interaction
ENSG00000265112	Chromatin interaction
ENSG00000180694	Chromatin interaction
ENSG00000178913	Chromatin interaction
ENSG00000201558	Chromatin interaction
ENSG00000255729	Chromatin interaction
ENSG00000246792	Chromatin interaction
ENSG00000048828	Chromatin interaction
ENSG00000227603	Chromatin interaction
ENSG00000156599	Chromatin interaction
ENSG00000269303	Chromatin interaction
ENSG00000165238	Chromatin interaction
ENSG00000127080	Chromatin interaction
ENSG00000223446	Chromatin interaction
ENSG00000214063	Chromatin interaction
ENSG00000131669	Chromatin interaction
ENSG00000199004	Chromatin interaction
ENSG00000123975	Chromatin interaction
ENSG00000165233	Chromatin interaction
ENSG00000089351	Chromatin interaction
ENSG00000197724	Chromatin interaction
ENSG00000157303	Chromatin interaction

rs_ID	r²[population]
rs17534161	1.00[MKK][hapmap]
rs72745445	1.00[ASN][1000 genomes]

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96212000-96213600	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr9:96212200-96213600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr9:96212200-96216200	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr9:96212400-96213400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr9:96212400-96213400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr9:96212400-96213400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr9:96212400-96213400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr9:96212400-96213400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr9:96212400-96213600	Flanking Active TSS	Primary T cells from cord blood	blood
10	chr9:96212400-96213600	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
11	chr9:96212400-96216000	Active TSS	NHLF	lung
12	chr9:96212400-96216200	Active TSS	Fetal Kidney	kidney
13	chr9:96212400-96216400	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr9:96212400-96216400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr9:96212400-96216400	Active TSS	A549	lung
16	chr9:96212400-96216400	Active TSS	HSMM	muscle
17	chr9:96212400-96216600	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr9:96212400-96216800	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr9:96212400-96216800	Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr9:96212400-96217000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr9:96212400-96217000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr9:96212600-96213400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr9:96212600-96213400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
24	chr9:96212600-96213400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
25	chr9:96212600-96213400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
26	chr9:96212600-96213400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr9:96212600-96213400	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr9:96212600-96213400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
29	chr9:96212600-96213400	Flanking Active TSS	Fetal Muscle Leg	muscle
30	chr9:96212600-96213400	Active TSS	Right Atrium	heart
31	chr9:96212600-96213400	Flanking Active TSS	HUVEC	blood vessel
32	chr9:96212600-96213400	Flanking Active TSS	NH-A	brain
33	chr9:96212600-96213600	Flanking Active TSS	Primary B cells from cord blood	blood
34	chr9:96212600-96213600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
35	chr9:96212600-96213600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr9:96212600-96213600	Active TSS	Stomach Mucosa	stomach
37	chr9:96212600-96214200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr9:96212600-96216400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr9:96212600-96216400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr9:96212600-96216400	Active TSS	Aorta	Aorta
41	chr9:96212600-96216400	Active TSS	Ovary	ovary
42	chr9:96212600-96216400	Active TSS	NHDF-Ad	bronchial
43	chr9:96212600-96216600	Active TSS	H9 Cell Line	embryonic stem cell
44	chr9:96212600-96216600	Active TSS	Sigmoid Colon	Sigmoid Colon
45	chr9:96212600-96217000	Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr9:96212600-96217200	Active TSS	H1 Cell Line	embryonic stem cell
47	chr9:96212600-96218400	Active TSS	GM12878-XiMat	blood
48	chr9:96212800-96213400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr9:96212800-96213600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
50	chr9:96212800-96213800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood

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