Variant report

Variant	rs72692823
Chromosome Location	chr1:149910775-149910776
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	SP1	chr1:149910752-149911727	HCT-116	colon:	n/a	chr1:149911100-149911114
2	JUND	chr1:149910773-149911651	SK-N-SH	brain:	n/a	chr1:149911117-149911127 chr1:149911519-149911529 chr1:149911116-149911127 chr1:149911128-149911139 chr1:149911520-149911528 chr1:149911385-149911392 chr1:149911518-149911530 chr1:149911519-149911529 chr1:149911439-149911453 chr1:149911383-149911395 chr1:149911385-149911393 chr1:149911117-149911127 chr1:149911130-149911139 chr1:149911427-149911436 chr1:149911385-149911394 chr1:149911129-149911138 chr1:149911521-149911532
3	POLR2A	chr1:149910672-149911628	MCF-7	breast:	n/a	n/a
4	SP1	chr1:149910669-149911715	A549	lung:	n/a	chr1:149911100-149911114
5	FOSL1	chr1:149910757-149911744	HCT-116	colon:	n/a	chr1:149911117-149911127 chr1:149911519-149911529 chr1:149911520-149911528 chr1:149911385-149911392 chr1:149911518-149911530 chr1:149911519-149911529 chr1:149911439-149911453 chr1:149911383-149911395 chr1:149911385-149911393 chr1:149911117-149911127 chr1:149911130-149911139 chr1:149911427-149911436 chr1:149911385-149911394 chr1:149911129-149911138 chr1:149911521-149911532
6	BCL3	chr1:149910710-149911616	A549	lung:	n/a	chr1:149911090-149911103 chr1:149911384-149911393 chr1:149911519-149911528 chr1:149911520-149911529 chr1:149911385-149911394
7	JUND	chr1:149910760-149911742	MCF-7	breast:	n/a	chr1:149911117-149911127 chr1:149911519-149911529 chr1:149911116-149911127 chr1:149911128-149911139 chr1:149911520-149911528 chr1:149911385-149911392 chr1:149911518-149911530 chr1:149911519-149911529 chr1:149911439-149911453 chr1:149911383-149911395 chr1:149911385-149911393 chr1:149911117-149911127 chr1:149911130-149911139 chr1:149911427-149911436 chr1:149911385-149911394 chr1:149911129-149911138 chr1:149911521-149911532
8	GATA3	chr1:149910692-149911733	MCF-7	breast:	n/a	chr1:149911116-149911125 chr1:149911018-149911025
9	POLR2A	chr1:149910715-149911646	PANC-1	pancreas:	n/a	n/a
10	JUND	chr1:149910675-149911616	MCF-7	breast:	n/a	chr1:149911117-149911127 chr1:149911519-149911529 chr1:149911116-149911127 chr1:149911128-149911139 chr1:149911520-149911528 chr1:149911385-149911392 chr1:149911518-149911530 chr1:149911519-149911529 chr1:149911439-149911453 chr1:149911383-149911395 chr1:149911385-149911393 chr1:149911117-149911127 chr1:149911130-149911139 chr1:149911427-149911436 chr1:149911385-149911394 chr1:149911129-149911138 chr1:149911521-149911532
11	FOSL2	chr1:149910745-149911781	MCF-7	breast:	n/a	chr1:149911117-149911127 chr1:149911519-149911529 chr1:149911520-149911528 chr1:149911385-149911392 chr1:149911518-149911530 chr1:149911519-149911529 chr1:149911439-149911453 chr1:149911383-149911395 chr1:149911385-149911393 chr1:149911117-149911127 chr1:149911130-149911139 chr1:149911427-149911436 chr1:149911385-149911394 chr1:149911129-149911138 chr1:149911521-149911532
12	NFIC	chr1:149910763-149911727	SK-N-SH	brain:	n/a	n/a
13	POLR2A	chr1:149910692-149911551	SK-N-MC	brain:	n/a	n/a
14	TCF12	chr1:149910758-149911749	A549	lung:	n/a	chr1:149911458-149911466
15	TCF12	chr1:149910754-149911545	ECC-1	luminal epithelium:	n/a	chr1:149911458-149911466
16	FOSL2	chr1:149910666-149911713	A549	lung:	n/a	chr1:149911117-149911127 chr1:149911519-149911529 chr1:149911520-149911528 chr1:149911385-149911392 chr1:149911518-149911530 chr1:149911519-149911529 chr1:149911439-149911453 chr1:149911383-149911395 chr1:149911385-149911393 chr1:149911117-149911127 chr1:149911130-149911139 chr1:149911427-149911436 chr1:149911385-149911394 chr1:149911129-149911138 chr1:149911521-149911532
17	YY1	chr1:149910632-149911210	A549	lung:	n/a	n/a
18	POLR2A	chr1:149910738-149910805	A549	lung:	n/a	n/a
19	POLR2A	chr1:149910754-149911451	HUVEC	blood vessel:	n/a	n/a
20	POLR2A	chr1:149910575-149911631	PANC-1	pancreas:	n/a	n/a
21	PML	chr1:149910774-149911601	MCF-7	breast:	n/a	chr1:149911128-149911137 chr1:149911386-149911395
22	POLR2A	chr1:149910579-149911307	MCF-7	breast:	n/a	n/a
23	PBX3	chr1:149910753-149911579	A549	lung:	n/a	n/a
24	POLR2A	chr1:149910751-149911607	HCT-116	colon:	n/a	n/a
25	POLR2A	chr1:149910751-149911551	HUVEC	blood vessel:	n/a	n/a
26	SP1	chr1:149910733-149911739	A549	lung:	n/a	chr1:149911100-149911114
27	JUND	chr1:149910678-149911854	SK-N-SH	brain:	n/a	chr1:149911117-149911127 chr1:149911519-149911529 chr1:149911116-149911127 chr1:149911128-149911139 chr1:149911520-149911528 chr1:149911385-149911392 chr1:149911518-149911530 chr1:149911519-149911529 chr1:149911439-149911453 chr1:149911383-149911395 chr1:149911385-149911393 chr1:149911117-149911127 chr1:149911130-149911139 chr1:149911427-149911436 chr1:149911385-149911394 chr1:149911129-149911138 chr1:149911521-149911532
28	POLR2A	chr1:149910693-149911505	K562	blood:	n/a	n/a
29	POLR2A	chr1:149910681-149911730	PFSK-1	brain:	n/a	n/a
30	SIN3AK20	chr1:149910675-149911874	MCF-7	breast:	n/a	n/a
31	REST	chr1:149910773-149911600	A549	lung:	n/a	n/a
32	POLR2A	chr1:149910755-149910815	ProgFib	skin:	n/a	n/a
33	SP1	chr1:149910761-149911799	HCT-116	colon:	n/a	chr1:149911100-149911114
34	POLR2A	chr1:149910747-149911625	SK-N-SH	brain:	n/a	n/a
35	JUN	chr1:149910680-149911648	K562	blood:	n/a	chr1:149911117-149911127 chr1:149911519-149911529 chr1:149911520-149911528 chr1:149911385-149911392 chr1:149911518-149911530 chr1:149911519-149911529 chr1:149911439-149911453 chr1:149911383-149911395 chr1:149911385-149911393 chr1:149911117-149911127 chr1:149911130-149911139 chr1:149911427-149911436 chr1:149911385-149911394 chr1:149911129-149911138 chr1:149911521-149911532
36	ZNF384	chr1:149910291-149911532	K562	blood:	n/a	n/a
37	MAZ	chr1:149910699-149911723	IMR90	lung:	n/a	chr1:149911520-149911529 chr1:149911385-149911394 chr1:149911129-149911138 chr1:149911384-149911393
38	MYBL2	chr1:149910665-149911624	HepG2	liver:	n/a	n/a
39	TAF1	chr1:149910767-149911338	A549	lung:	n/a	n/a
40	GATA3	chr1:149910637-149911881	MCF-7	breast:	n/a	chr1:149911116-149911125 chr1:149911018-149911025
41	JUND	chr1:149910767-149911592	T-47D	breast:	n/a	chr1:149911117-149911127 chr1:149911519-149911529 chr1:149911116-149911127 chr1:149911128-149911139 chr1:149911520-149911528 chr1:149911385-149911392 chr1:149911518-149911530 chr1:149911519-149911529 chr1:149911439-149911453 chr1:149911383-149911395 chr1:149911385-149911393 chr1:149911117-149911127 chr1:149911130-149911139 chr1:149911427-149911436 chr1:149911385-149911394 chr1:149911129-149911138 chr1:149911521-149911532
42	MEF2A	chr1:149910756-149911629	SK-N-SH	brain:	n/a	chr1:149911130-149911138 chr1:149911520-149911528
43	SIX5	chr1:149910628-149911847	A549	lung:	n/a	n/a
44	POLR2A	chr1:149910689-149911634	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:149909572..149911574-chr12:77169108..77170909,2	MCF-7	breast:
2	chr1:149908142..149911040-chr12:120728491..120730750,2	MCF-7	breast:
3	chr1:149815719..149822339-chr1:149907112..149913890,13	MCF-7	breast:
4	chr1:149908788..149910913-chr1:150337065..150338725,2	MCF-7	breast:
5	chr1:149908339..149915829-chr1:150035449..150039990,12	MCF-7	breast:
6	chr1:149909021..149910890-chr1:150157727..150159306,2	MCF-7	breast:
7	chr1:149813703..149815713-chr1:149909589..149912575,2	MCF-7	breast:
8	chr1:149909098..149913476-chr1:149978280..149982825,6	MCF-7	breast:
9	chr1:149909612..149912880-chr1:149960948..149964772,4	MCF-7	breast:
10	chr1:149908936..149911322-chr4:84348157..84349658,2	MCF-7	breast:
11	chr1:149908458..149914088-chr1:149980717..149984285,8	MCF-7	breast:
12	chr1:149907171..149915966-chr1:150036158..150043011,15	MCF-7	breast:
13	chr1:149909114..149911303-chr1:149929784..149931394,2	MCF-7	breast:
14	chr1:149908929..149910844-chr1:149992123..149994012,2	MCF-7	breast:
15	chr1:149814002..149823234-chr1:149906555..149912579,18	MCF-7	breast:
16	chr1:149907919..149910778-chr8:101963052..101964882,2	MCF-7	breast:
17	chr1:149909348..149911287-chr1:150133137..150136062,3	MCF-7	breast:
18	chr1:149909776..149912433-chr1:150001738..150003437,2	MCF-7	breast:
19	chr1:149909521..149911274-chr3:64794861..64796747,2	MCF-7	breast:
20	chr1:149909949..149911935-chr1:149937678..149940090,2	MCF-7	breast:

Variant related genes	Relation type
MTMR11	TF binding region
ENSG00000163125	Chromatin interaction
ENSG00000183558	Chromatin interaction
ENSG00000272993	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000220323	Chromatin interaction
ENSG00000203819	Chromatin interaction
ENSG00000136631	Chromatin interaction
ENSG00000163312	Chromatin interaction
ENSG00000163113	Chromatin interaction
ENSG00000261716	Chromatin interaction
ENSG00000203812	Chromatin interaction
ENSG00000164924	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10494260	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11205310	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12023748	0.86[ASN][1000 genomes]
rs12026500	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3767627	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3767628	0.85[ASN][1000 genomes]
rs4926400	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6660842	0.90[ASN][1000 genomes]
rs72692821	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7551741	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432820	chr1:148921404-149920927	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	784 gene(s)	inside rSNPs	diseases
2	nsv831537	chr1:149833357-150064655	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	431 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:149906400-149912000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr1:149908600-149911600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
3	chr1:149908800-149910800	Enhancers	Pancreas	Pancrea
4	chr1:149908800-149911000	Enhancers	Psoas Muscle	Psoas
5	chr1:149908800-149911400	Enhancers	Fetal Thymus	thymus
6	chr1:149908800-149912600	Weak transcription	Gastric	stomach
7	chr1:149909000-149910800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:149909000-149910800	Enhancers	Muscle Satellite Cultured Cells	--
9	chr1:149909000-149911400	Enhancers	Right Ventricle	heart
10	chr1:149909000-149911600	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr1:149909000-149911800	Enhancers	Left Ventricle	heart
12	chr1:149909000-149912000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:149909000-149912000	Enhancers	Brain Angular Gyrus	brain
14	chr1:149909200-149910800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:149909200-149910800	Enhancers	Placenta	Placenta
16	chr1:149909200-149910800	Enhancers	Right Atrium	heart
17	chr1:149909200-149910800	Enhancers	HUVEC	blood vessel
18	chr1:149909200-149910800	Enhancers	K562	blood
19	chr1:149909200-149911400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr1:149909200-149911600	Enhancers	Fetal Stomach	stomach
21	chr1:149909200-149911800	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr1:149909200-149911800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr1:149909200-149911800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:149909200-149911800	Enhancers	Fetal Muscle Trunk	muscle
25	chr1:149909200-149915400	Weak transcription	Brain Germinal Matrix	brain
26	chr1:149909200-149916400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:149909400-149910800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:149909400-149910800	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr1:149909400-149910800	Enhancers	Brain Anterior Caudate	brain
30	chr1:149909400-149911000	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr1:149909400-149911200	Enhancers	Primary hematopoietic stem cells	blood
32	chr1:149909400-149911400	Enhancers	Primary T cells fromperipheralblood	blood
33	chr1:149909400-149911400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr1:149909400-149911600	Enhancers	Fetal Muscle Leg	muscle
35	chr1:149909400-149911800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr1:149909400-149912600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr1:149909400-149915000	Weak transcription	Fetal Brain Female	brain
38	chr1:149909400-149947000	Weak transcription	Fetal Brain Male	brain
39	chr1:149909600-149910800	Weak transcription	Aorta	Aorta
40	chr1:149909600-149910800	Enhancers	Colon Smooth Muscle	Colon
41	chr1:149909600-149911000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr1:149909600-149911000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr1:149909600-149911200	Enhancers	Stomach Mucosa	stomach
44	chr1:149909600-149911800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr1:149909600-149916400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr1:149909800-149910800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr1:149909800-149910800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr1:149909800-149910800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr1:149909800-149913800	Weak transcription	Fetal Lung	lung
50	chr1:149909800-149916600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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