Variant report

Variant	rs10061468
Chromosome Location	chr5:115912853-115912854
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	PAX5	chr5:115912622-115913427	GM12878	blood:	n/a	n/a
2	CTBP2	chr5:115912171-115913036	H1-hESC	embryonic stem cell:	n/a	n/a
3	CREB1	chr5:115912213-115913459	GM12878	blood:	n/a	n/a
4	MEF2A	chr5:115912719-115913249	GM12878	blood:	n/a	chr5:115913095-115913110 chr5:115913095-115913112 chr5:115913097-115913108 chr5:115913095-115913110 chr5:115913097-115913112
5	TCF12	chr5:115912713-115913290	GM12878	blood:	n/a	n/a
6	USF2	chr5:115912604-115913166	GM12878	blood:	n/a	n/a
7	BCL3	chr5:115912689-115913278	GM12878	blood:	n/a	n/a
8	USF1	chr5:115912553-115912942	H1-hESC	embryonic stem cell:	n/a	n/a
9	RUNX3	chr5:115912509-115913584	GM12878	blood:	n/a	n/a
10	EBF1	chr5:115912634-115913390	GM12878	blood:	n/a	chr5:115912875-115912886 chr5:115912878-115912887
11	IKZF1	chr5:115912479-115913395	GM12878	blood:	n/a	n/a
12	EP300	chr5:115912408-115913440	GM12878	blood:	n/a	n/a
13	STAT3	chr5:115912777-115913155	MCF10A-Er-Src	breast:	n/a	chr5:115913041-115913052
14	MXI1	chr5:115912432-115913371	GM12878	blood:	n/a	n/a
15	BHLHE40	chr5:115912580-115913446	GM12878	blood:	n/a	n/a
16	EP300	chr5:115912643-115913279	GM12878	blood:	n/a	n/a
17	EP300	chr5:115911664-115913404	GM12878	blood:	n/a	n/a
18	EBF1	chr5:115912645-115913406	GM12878	blood:	n/a	chr5:115912875-115912886 chr5:115912878-115912887
19	NFATC1	chr5:115912678-115913358	GM12878	blood:	n/a	n/a
20	YY1	chr5:115912709-115913291	GM12878	blood:	n/a	n/a
21	USF1	chr5:115912621-115913023	H1-hESC	embryonic stem cell:	n/a	n/a
22	RELA	chr5:115912737-115913331	GM10847	blood:	n/a	n/a
23	CHD2	chr5:115911292-115913493	GM12878	blood:	n/a	n/a
24	ZNF384	chr5:115912776-115913344	GM12878	blood:	n/a	n/a
25	YY1	chr5:115912791-115913304	GM12878	blood:	n/a	n/a
26	MAX	chr5:115912666-115913003	H1-hESC	embryonic stem cell:	n/a	chr5:115912792-115912807 chr5:115912793-115912802 chr5:115912792-115912805 chr5:115912794-115912804 chr5:115912794-115912803 chr5:115912792-115912805 chr5:115912794-115912803 chr5:115912793-115912804 chr5:115912792-115912805 chr5:115912790-115912805 chr5:115912792-115912805 chr5:115912793-115912804 chr5:115912793-115912803
27	RAD21	chr5:115912767-115913051	H1-hESC	embryonic stem cell:	n/a	n/a
28	WRNIP1	chr5:115912695-115913511	GM12878	blood:	n/a	n/a
29	MAZ	chr5:115911249-115913425	GM12878	blood:	n/a	chr5:115912792-115912807 chr5:115912793-115912802 chr5:115912792-115912805 chr5:115912794-115912804 chr5:115911492-115911502 chr5:115912794-115912803 chr5:115912792-115912805 chr5:115912794-115912803 chr5:115912793-115912804 chr5:115912792-115912805 chr5:115912790-115912805 chr5:115912792-115912805 chr5:115912793-115912804 chr5:115912793-115912803
30	RAD21	chr5:115911613-115913432	GM12878	blood:	n/a	chr5:115911934-115911953
31	SP1	chr5:115912674-115913377	GM12878	blood:	n/a	n/a
32	ATF2	chr5:115912607-115913221	H1-hESC	embryonic stem cell:	n/a	chr5:115913109-115913120
33	SIN3A	chr5:115912672-115913024	H1-hESC	embryonic stem cell:	n/a	chr5:115912879-115912892 chr5:115912793-115912802
34	PAX5	chr5:115912753-115913268	GM12878	blood:	n/a	n/a
35	MAX	chr5:115912631-115913078	H1-hESC	embryonic stem cell:	n/a	chr5:115912792-115912807 chr5:115912793-115912802 chr5:115912792-115912805 chr5:115912794-115912804 chr5:115912794-115912803 chr5:115912792-115912805 chr5:115912794-115912803 chr5:115912793-115912804 chr5:115912792-115912805 chr5:115912790-115912805 chr5:115912792-115912805 chr5:115912793-115912804 chr5:115912793-115912803
36	FAM48A	chr5:115912835-115913007	GM12878	blood:	n/a	n/a
37	RAD21	chr5:115912736-115913177	GM12878	blood:	n/a	n/a
38	RELA	chr5:115912726-115913333	GM15510	blood:	n/a	n/a
39	RFX5	chr5:115912827-115913466	GM12878	blood:	n/a	n/a
40	EBF1	chr5:115910383-115913484	GM12878	blood:	n/a	chr5:115912875-115912886 chr5:115912878-115912887
41	RCOR1	chr5:115911602-115913462	GM12878	blood:	n/a	n/a
42	PAX5	chr5:115912752-115913060	GM12878	blood:	n/a	n/a
43	BCLAF1	chr5:115912568-115913383	GM12878	blood:	n/a	n/a
44	RAD21	chr5:115912770-115913337	GM12878	blood:	n/a	n/a
45	SRF	chr5:115912842-115913033	GM12878	blood:	n/a	n/a
46	MTA3	chr5:115911889-115913511	GM12878	blood:	n/a	n/a
47	TCF3	chr5:115912787-115913039	GM12878	blood:	n/a	chr5:115912884-115912899 chr5:115912887-115912896
48	STAT3	chr5:115912468-115913323	GM12878	blood:	n/a	chr5:115913041-115913052
49	RELA	chr5:115912698-115913329	GM18505	blood:	n/a	n/a
50	PML	chr5:115912824-115913199	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:10764160..10766526-chr5:115912031..115913531,2	K562	blood:

Variant related genes	Relation type
SEMA6A	TF binding region
ENSG00000267100	Chromatin interaction
ENSG00000129351	Chromatin interaction

rs_ID	r²[population]
rs10037569	1.00[EUR][1000 genomes]
rs10073342	1.00[EUR][1000 genomes]
rs12332586	1.00[EUR][1000 genomes]
rs13355107	1.00[EUR][1000 genomes]
rs13355323	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13362514	1.00[EUR][1000 genomes]
rs17140058	1.00[EUR][1000 genomes]
rs17140180	1.00[EUR][1000 genomes]
rs28677890	1.00[EUR][1000 genomes]
rs4379240	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58841498	1.00[EUR][1000 genomes]
rs60190258	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs640121	1.00[EUR][1000 genomes]
rs6864548	1.00[EUR][1000 genomes]
rs6897908	1.00[EUR][1000 genomes]
rs73256769	1.00[EUR][1000 genomes]
rs73780329	1.00[EUR][1000 genomes]
rs73780382	1.00[EUR][1000 genomes]
rs7711834	1.00[EUR][1000 genomes]
rs7718743	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115910600-115913000	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
2	chr5:115911000-115913000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
3	chr5:115911800-115913000	Active TSS	Colonic Mucosa	Colon
4	chr5:115911800-115914400	Weak transcription	HepG2	liver
5	chr5:115912000-115913000	Enhancers	Fetal Brain Male	brain
6	chr5:115912200-115913400	Flanking Active TSS	GM12878-XiMat	blood
7	chr5:115912400-115913000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr5:115912400-115913000	Bivalent Enhancer	Fetal Thymus	thymus
9	chr5:115912400-115913000	Enhancers	Left Ventricle	heart
10	chr5:115912400-115913400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
11	chr5:115912400-115913800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:115912400-115914200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr5:115912400-115914600	Weak transcription	Fetal Lung	lung
14	chr5:115912400-115917800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr5:115912400-115930000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr5:115912600-115913000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:115912600-115913000	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr5:115912600-115913000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr5:115912600-115913000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr5:115912600-115913000	Enhancers	Brain Cingulate Gyrus	brain
21	chr5:115912600-115913000	Enhancers	Fetal Muscle Trunk	muscle
22	chr5:115912600-115913000	Enhancers	Fetal Muscle Leg	muscle
23	chr5:115912600-115913200	Enhancers	H9 Cell Line	embryonic stem cell
24	chr5:115912600-115913200	Enhancers	Placenta	Placenta
25	chr5:115912600-115913400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr5:115912600-115914800	Enhancers	H1 Cell Line	embryonic stem cell
27	chr5:115912600-115916800	Weak transcription	Brain Hippocampus Middle	brain
28	chr5:115912600-115917000	Weak transcription	Brain Substantia Nigra	brain
29	chr5:115912800-115913000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr5:115912800-115913000	Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr5:115912800-115913000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr5:115912800-115913000	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr5:115912800-115913200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr5:115912800-115913600	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr5:115912800-115914000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr5:115912800-115915000	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr5:115912800-115915200	Enhancers	HUES6 Cell Line	embryonic stem cell

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