Variant report

Variant	rs1383982
Chromosome Location	chr4:54244323-54244324
allele	G/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	POLR2A	chr4:54243462-54244508	GM12891	blood:	n/a	n/a
2	ELF1	chr4:54243555-54244472	GM12878	blood:	n/a	chr4:54243762-54243771
3	BHLHE40	chr4:54243439-54244370	GM12878	blood:	n/a	n/a
4	POLR2A	chr4:54243526-54244363	MCF-7	breast:	n/a	n/a
5	MAX	chr4:54243287-54244774	NB4	blood:	n/a	chr4:54243636-54243646
6	POLR2A	chr4:54243436-54244437	K562	blood:	n/a	n/a
7	POLR2A	chr4:54243462-54244417	GM12892	blood:	n/a	n/a
8	RAD21	chr4:54243436-54244447	IMR90	lung:	n/a	n/a
9	POLR2A	chr4:54243441-54244340	K562	blood:	n/a	n/a
10	YY1	chr4:54243495-54244392	K562	blood:	n/a	chr4:54243997-54244017 chr4:54243999-54244011 chr4:54243638-54243647
11	MXI1	chr4:54243504-54244491	HepG2	liver:	n/a	n/a
12	MAZ	chr4:54243356-54244800	IMR90	lung:	n/a	chr4:54243636-54243646
13	RCOR1	chr4:54243004-54244418	K562	blood:	n/a	n/a
14	POLR2A	chr4:54243465-54244358	Hela-S3	cervix:	n/a	n/a
15	YY1	chr4:54243552-54244327	ECC-1	luminal epithelium:	n/a	chr4:54243997-54244017 chr4:54243999-54244011 chr4:54243638-54243647
16	ZMIZ1	chr4:54243450-54244476	K562	blood:	n/a	n/a
17	POLR2A	chr4:54243472-54244527	GM12892	blood:	n/a	n/a
18	POLR2A	chr4:54243503-54244360	ECC-1	luminal epithelium:	n/a	n/a
19	FOXM1	chr4:54243376-54244408	GM12878	blood:	n/a	n/a
20	POLR2A	chr4:54243429-54244396	NB4	blood:	n/a	n/a
21	POLR2A	chr4:54243457-54244498	GM18526	blood:	n/a	n/a
22	E2F6	chr4:54243611-54244465	H1-hESC	embryonic stem cell:	n/a	chr4:54243732-54243741 chr4:54243638-54243647 chr4:54243638-54243650
23	SIN3AK20	chr4:54243736-54244486	SK-N-SH	brain:	n/a	n/a
24	MAX	chr4:54243417-54244523	SK-N-SH	brain:	n/a	chr4:54243636-54243646
25	POLR2A	chr4:54243544-54244484	GM12878	blood:	n/a	n/a
26	SMC3	chr4:54243262-54244468	Hela-S3	cervix:	n/a	n/a
27	MAX	chr4:54243459-54244511	ECC-1	luminal epithelium:	n/a	chr4:54243636-54243646
28	ZBTB7A	chr4:54244124-54244364	K562	blood:	n/a	n/a
29	PAX5	chr4:54243595-54244440	GM12892	blood:	n/a	n/a
30	MYC	chr4:54243459-54244651	NB4	blood:	n/a	chr4:54243636-54243646
31	BACH1	chr4:54244194-54244388	H1-hESC	embryonic stem cell:	n/a	n/a
32	MXI1	chr4:54243559-54244327	K562	blood:	n/a	n/a
33	CCNT2	chr4:54243585-54244443	K562	blood:	n/a	chr4:54243638-54243647 chr4:54243711-54243720
34	HMGN3	chr4:54243353-54244426	K562	blood:	n/a	n/a
35	ELF1	chr4:54243555-54244380	K562	blood:	n/a	chr4:54243762-54243771
36	POLR2A	chr4:54243437-54244565	Hela-S3	cervix:	n/a	n/a
37	ZNF263	chr4:54243648-54244455	HEK293-T-REx	kidney:	n/a	n/a
38	MXI1	chr4:54243000-54245752	SK-N-SH	brain:	n/a	n/a
39	MAZ	chr4:54243485-54244399	GM12878	blood:	n/a	chr4:54243636-54243646
40	GABPA	chr4:54243467-54244345	SK-N-SH	brain:	n/a	chr4:54243731-54243740 chr4:54243728-54243742 chr4:54243638-54243647 chr4:54243731-54243745 chr4:54243731-54243742
41	MAX	chr4:54243478-54244491	HepG2	liver:	n/a	chr4:54243636-54243646
42	POLR2A	chr4:54243462-54244522	GM19193	blood:	n/a	n/a
43	CREB1	chr4:54243395-54244412	GM12878	blood:	n/a	n/a
44	POLR2A	chr4:54243545-54244379	A549	lung:	n/a	n/a
45	MYC	chr4:54244179-54244361	MCF-7	breast:	n/a	n/a
46	MAX	chr4:54243602-54244352	HepG2	liver:	n/a	chr4:54243636-54243646
47	HCFC1	chr4:54243262-54244402	Hela-S3	cervix:	n/a	n/a
48	REST	chr4:54243090-54244588	H1-neurons	neurons:	n/a	n/a
49	MAX	chr4:54243533-54244472	K562	blood:	n/a	chr4:54243636-54243646
50	POLR2A	chr4:54243528-54244412	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:54231262..54233846-chr4:54243717..54245288,2	MCF-7	breast:
2	chr4:54230756..54233682-chr4:54240977..54245711,5	MCF-7	breast:
3	chr4:54231892..54232556-chr4:54243887..54244579,2	MCF-7	breast:

Variant related genes	Relation type
FIP1L1	TF binding region
ENSG00000184178	Chromatin interaction

Extended variants
information (count: 99 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs10005221	0.82[EUR][1000 genomes]
rs10006090	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10011631	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10012682	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10012857	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10014172	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10019914	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10021659	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10022429	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10022604	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10023613	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10024153	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10024702	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10025091	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10027090	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10028131	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10034035	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10517295	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12642401	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12644212	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12645252	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12645287	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12649258	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12649335	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13435297	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13435378	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1473911	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1481816	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs15834	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17082681	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17082726	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17082741	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17082744	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17082811	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17082837	0.87[ASN][1000 genomes]
rs17082847	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs17326196	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17839071	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2054589	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2054590	0.97[ASN][1000 genomes]
rs2054591	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2137895	0.87[ASN][1000 genomes]
rs2175906	0.87[ASN][1000 genomes]
rs2412487	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs28396593	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28403386	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28414224	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28416355	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28417191	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28418269	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28454103	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28459811	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28460231	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28506190	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28538880	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28555544	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28575132	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28588270	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs28633646	0.86[ASN][1000 genomes]
rs28647402	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28654213	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28658460	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28729231	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28778298	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28778963	0.84[AMR][1000 genomes]
rs28831138	0.88[AMR][1000 genomes]
rs28835433	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28848852	0.92[ASN][1000 genomes]
rs3762877	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3762878	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3762879	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55862905	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56345181	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56997859	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57090564	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57165925	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57587034	0.83[AMR][1000 genomes]
rs57616867	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs57717970	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs58566208	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59213600	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59311047	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs60072918	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62323221	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62323222	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62323223	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62325171	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62325218	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62325968	0.96[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs62325970	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6816889	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73154934	0.96[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs73154945	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73156086	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9312640	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9995110	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9996049	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9996299	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9997905	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54243000-54244800	Active TSS	Fetal Lung	lung
2	chr4:54243000-54244800	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr4:54243000-54245000	Active TSS	Brain Cingulate Gyrus	brain
4	chr4:54243000-54247800	Active TSS	GM12878-XiMat	blood
5	chr4:54243200-54244600	Active TSS	Rectal Smooth Muscle	rectum
6	chr4:54243200-54244600	Active TSS	Sigmoid Colon	Sigmoid Colon
7	chr4:54243200-54244800	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr4:54243200-54244800	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr4:54243200-54244800	Active TSS	Fetal Muscle Trunk	muscle
10	chr4:54243200-54244800	Active TSS	NHEK	skin
11	chr4:54243200-54245000	Active TSS	H9 Cell Line	embryonic stem cell
12	chr4:54243200-54245200	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr4:54243200-54245200	Active TSS	Fetal Intestine Small	intestine
14	chr4:54243200-54245200	Active TSS	Fetal Stomach	stomach
15	chr4:54243200-54245400	Active TSS	H1 Cell Line	embryonic stem cell
16	chr4:54243200-54245400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr4:54243200-54245400	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr4:54243200-54245400	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr4:54243200-54245400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr4:54243200-54245400	Active TSS	Psoas Muscle	Psoas
21	chr4:54243200-54245400	Active TSS	Right Ventricle	heart
22	chr4:54243200-54245600	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr4:54243200-54245800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr4:54243200-54246000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr4:54243200-54246200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr4:54243200-54246200	Active TSS	Ovary	ovary
27	chr4:54243200-54246200	Active TSS	Thymus	Thymus
28	chr4:54243200-54246400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr4:54243400-54244400	Active TSS	Primary monocytes fromperipheralblood	blood
30	chr4:54243400-54244400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
31	chr4:54243400-54244400	Active TSS	Placenta Amnion	Placenta Amnion
32	chr4:54243400-54244400	Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr4:54243400-54244600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr4:54243400-54244600	Active TSS	Liver	Liver
35	chr4:54243400-54244600	Active TSS	Brain Angular Gyrus	brain
36	chr4:54243400-54244600	Active TSS	Brain Substantia Nigra	brain
37	chr4:54243400-54244600	Active TSS	Colon Smooth Muscle	Colon
38	chr4:54243400-54244600	Active TSS	Duodenum Mucosa	Duodenum
39	chr4:54243400-54244600	Active TSS	Fetal Brain Female	brain
40	chr4:54243400-54244600	Active TSS	Small Intestine	intestine
41	chr4:54243400-54244800	Active TSS	Primary B cells from peripheral blood	blood
42	chr4:54243400-54244800	Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr4:54243400-54244800	Active TSS	Brain Anterior Caudate	brain
44	chr4:54243400-54244800	Active TSS	Brain Inferior Temporal Lobe	brain
45	chr4:54243400-54244800	Active TSS	Fetal Brain Male	brain
46	chr4:54243400-54244800	Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr4:54243400-54245000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
48	chr4:54243400-54245000	Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr4:54243400-54245000	Active TSS	Primary T cells fromperipheralblood	blood
50	chr4:54243400-54245000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood

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