Variant report

Variant	rs73299037
Chromosome Location	chr7:12250748-12250749
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	REST	chr7:12250538-12251259	A549	lung:	n/a	chr7:12250989-12251009 chr7:12251155-12251168 chr7:12251158-12251171 chr7:12250992-12251005 chr7:12251001-12251010 chr7:12251035-12251045
2	POLR2A	chr7:12250224-12251340	K562	blood:	n/a	n/a
3	PAX5	chr7:12250748-12251235	GM12892	blood:	n/a	chr7:12250929-12250938
4	POU2F2	chr7:12250559-12251266	GM12878	blood:	n/a	n/a
5	TAF1	chr7:12250458-12251328	Hela-S3	cervix:	n/a	n/a
6	GABPA	chr7:12250701-12251345	K562	blood:	n/a	chr7:12250843-12250854 chr7:12250843-12250857 chr7:12250840-12250854 chr7:12250843-12250852
7	PML	chr7:12250544-12251363	MCF-7	breast:	n/a	n/a
8	MYC	chr7:12250345-12251439	NB4	blood:	n/a	chr7:12250959-12250969
9	MXI1	chr7:12250092-12251432	HepG2	liver:	n/a	n/a
10	POLR2A	chr7:12250226-12251452	Hela-S3	cervix:	n/a	n/a
11	SMC3	chr7:12250465-12251631	GM12878	blood:	n/a	n/a
12	SIX5	chr7:12250350-12251250	A549	lung:	n/a	n/a
13	POLR2A	chr7:12250526-12251192	K562	blood:	n/a	n/a
14	GATA3	chr7:12249761-12251069	T-47D	breast:	n/a	chr7:12250250-12250260 chr7:12250251-12250258 chr7:12250634-12250644 chr7:12250251-12250258 chr7:12250251-12250258 chr7:12250248-12250258
15	POLR2A	chr7:12250341-12251392	U87	brain:	n/a	n/a
16	MYBL2	chr7:12250390-12251588	HepG2	liver:	n/a	n/a
17	MAX	chr7:12250418-12251462	HepG2	liver:	n/a	chr7:12250959-12250969
18	MXI1	chr7:12250104-12251573	Hela-S3	cervix:	n/a	n/a
19	RCOR1	chr7:12250318-12251547	K562	blood:	n/a	n/a
20	NRF1	chr7:12250604-12251014	K562	blood:	n/a	chr7:12250843-12250854 chr7:12250843-12250857 chr7:12250840-12250854 chr7:12250842-12250853 chr7:12250843-12250852
21	CREB1	chr7:12250619-12251157	ECC-1	luminal epithelium:	n/a	n/a
22	POLR2A	chr7:12249858-12251921	Hela-S3	cervix:	n/a	n/a
23	NRF1	chr7:12249916-12251408	SK-N-SH	brain:	n/a	chr7:12250843-12250854 chr7:12250843-12250857 chr7:12250840-12250854 chr7:12250842-12250853 chr7:12250843-12250852
24	PML	chr7:12250240-12251378	GM12878	blood:	n/a	n/a
25	EP300	chr7:12250689-12251331	T-47D	breast:	n/a	chr7:12250927-12250936
26	GABPA	chr7:12250589-12251364	MCF-7	breast:	n/a	chr7:12250843-12250854 chr7:12250843-12250857 chr7:12250840-12250854 chr7:12250843-12250852
27	TCF7L2	chr7:12250148-12250925	MCF-7	breast:	n/a	chr7:12250703-12250713
28	MXI1	chr7:12250644-12251076	K562	blood:	n/a	n/a
29	CREB1	chr7:12250258-12251492	HepG2	liver:	n/a	n/a
30	TFAP2C	chr7:12250167-12251414	Hela-S3	cervix:	n/a	n/a
31	CCNT2	chr7:12250488-12251334	K562	blood:	n/a	chr7:12250905-12250914
32	FOS	chr7:12250472-12250962	HUVEC	blood vessel:	n/a	n/a
33	THAP1	chr7:12250731-12250911	K562	blood:	n/a	n/a
34	MAX	chr7:12250237-12251538	H1-hESC	embryonic stem cell:	n/a	chr7:12250959-12250969
35	SETDB1	chr7:12250229-12251279	K562	blood:	n/a	chr7:12250844-12250853
36	TRIM28	chr7:12250432-12251260	K562	blood:	n/a	n/a
37	ZNF263	chr7:12250371-12251603	HEK293-T-REx	kidney:	n/a	n/a
38	TCF12	chr7:12250413-12251127	A549	lung:	n/a	n/a
39	ATF3	chr7:12250371-12251061	A549	lung:	n/a	n/a
40	TCF12	chr7:12250314-12251626	ECC-1	luminal epithelium:	n/a	n/a
41	NR3C1	chr7:12250736-12251323	A549	lung:	n/a	n/a
42	RCOR1	chr7:12250437-12251357	HepG2	liver:	n/a	n/a
43	MAX	chr7:12250432-12251443	K562	blood:	n/a	chr7:12250959-12250969
44	CTCF	chr7:12250723-12251070	Spleen_OC	spleen:	n/a	n/a
45	KAP1	chr7:12250060-12252083	HEK293	kidney:	n/a	chr7:12251695-12251703
46	POLR2A	chr7:12250561-12251252	HUVEC	blood vessel:	n/a	n/a
47	FOSL2	chr7:12250440-12250914	A549	lung:	n/a	n/a
48	TAF1	chr7:12250416-12251486	ECC-1	luminal epithelium:	n/a	n/a
49	POLR2A	chr7:12250631-12251310	A549	lung:	n/a	n/a
50	USF1	chr7:12250513-12250972	SK-N-SH_RA	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:12250721-12250771	SK-N-MC	brain:	n/a
2	chr7:12250721-12250771	T-47D	breast:	n/a
3	chr7:12250721-12250771	GM19239	blood:	n/a
4	chr7:12250721-12250771	BJ	skin:	n/a
5	chr7:12250721-12250771	SKMC	muscle:	n/a
6	chr7:12250721-12250771	HCT-116	colon:	n/a
7	chr7:12250721-12250771	HRCEpiC	kidney:	n/a
8	chr7:12250721-12250771	HepG2	liver:	n/a
9	chr7:12250721-12250771	GM12878	blood:	n/a
10	chr7:12250721-12250771	GM12891	blood:	n/a
11	chr7:12250721-12250771	AG04450	lung:	fetal
12	chr7:12250721-12250771	PANC-1	pancreas:	n/a
13	chr7:12250721-12250771	MCF10A-Er-Src	breast:	n/a
14	chr7:12250721-12250771	HEK293	kidney:	embryo
15	chr7:12250721-12250771	Caco-2	colon:	n/a
16	chr7:12250721-12250771	HAEpiC	amniotic membrane:	n/a
17	chr7:12250721-12250771	IMR90	lung:	fetal
18	chr7:12250721-12250771	RPTEC	kidney:	n/a
19	chr7:12250721-12250771	NB4	blood:	n/a
20	chr7:12250721-12250771	GM12892	blood:	n/a
21	chr7:12250721-12250771	SK-N-SH_RA	brain:	n/a
22	chr7:12250721-12250771	HCF	heart:	n/a
23	chr7:12250721-12250771	NT2-D1	testis:	n/a
24	chr7:12250721-12250771	NHDF-neo	bronchial:	n/a
25	chr7:12250721-12250771	HIPEpiC	eye:	n/a
26	chr7:12250721-12250771	Hepatocyte	liver:	n/a
27	chr7:12250721-12250771	HL-60	blood:	n/a
28	chr7:12250721-12250771	AoSMC	blood vessel:	n/a
29	chr7:12250721-12250771	AG10803	skin:	n/a
30	chr7:12250721-12250771	PrEC	prostate:	n/a
31	chr7:12250721-12250771	HMEC	breast:	n/a
32	chr7:12250721-12250771	HNPCEpiC	eye:	n/a
33	chr7:12250721-12250771	GM06990	blood:	n/a
34	chr7:12250721-12250771	HRPEpiC	eye:	n/a
35	chr7:12250721-12250771	MCF-7	breast:	n/a
36	chr7:12250721-12250771	AG04449	skin:	fetal
37	chr7:12250721-12250771	BE2_C	brain:	n/a
38	chr7:12250721-12250771	HEEpiC	esophagus:	n/a
39	chr7:12250721-12250771	K562	blood:	n/a
40	chr7:12250721-12250771	AG09319	gingival:	n/a
41	chr7:12250721-12250771	NH-A	brain:	n/a
42	chr7:12250721-12250771	Jurkat	blood:	n/a
43	chr7:12250721-12250771	H1-hESC	embryonic stem cell:	embryo
44	chr7:12250721-12250771	LNCaP	prostate:	n/a
45	chr7:12250721-12250771	CMK	blood:	n/a
46	chr7:12250721-12250771	HRE	kidney:	n/a
47	chr7:12250721-12250771	AG09309	skin:	n/a
48	chr7:12250721-12250771	ovcar-3	ovarian:	n/a
49	chr7:12250721-12250771	HCM	heart:	n/a
50	chr7:12250721-12250771	HCPEpiC	choroid plexus:	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:44563231..44563776-chr7:12249962..12250824,2	Hela-S3	cervix:
2	chr14:39572252..39573123-chr7:12250595..12251375,2	Hela-S3	cervix:
3	chr7:12250736..12251292-chr9:74383519..74384056,2	Hela-S3	cervix:
4	chr14:39639664..39640469-chr7:12250678..12251257,2	Hela-S3	cervix:
5	chr7:12237815..12240381-chr7:12248250..12250812,3	K562	blood:

Variant related genes	Relation type
TMEM106B	TF binding region
TMEM106B	CpG island
ENSG00000135048	Chromatin interaction
ENSG00000100982	Chromatin interaction
ENSG00000182400	Chromatin interaction
ENSG00000258651	Chromatin interaction
ENSG00000100934	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10488200	1.00[EUR][1000 genomes]
rs10488201	1.00[EUR][1000 genomes]
rs10488202	1.00[EUR][1000 genomes]
rs10488203	1.00[EUR][1000 genomes]
rs10488205	1.00[EUR][1000 genomes]
rs17165572	1.00[EUR][1000 genomes]
rs17165583	1.00[EUR][1000 genomes]
rs17165585	1.00[EUR][1000 genomes]
rs17165586	1.00[EUR][1000 genomes]
rs17165587	1.00[EUR][1000 genomes]
rs17165589	1.00[EUR][1000 genomes]
rs17165590	1.00[EUR][1000 genomes]
rs17165591	1.00[EUR][1000 genomes]
rs17165602	1.00[EUR][1000 genomes]
rs17165605	1.00[EUR][1000 genomes]
rs17165607	1.00[EUR][1000 genomes]
rs17165608	1.00[EUR][1000 genomes]
rs17165609	1.00[EUR][1000 genomes]
rs17165617	1.00[EUR][1000 genomes]
rs17165620	1.00[EUR][1000 genomes]
rs17165621	1.00[EUR][1000 genomes]
rs17165622	1.00[EUR][1000 genomes]
rs17165647	1.00[EUR][1000 genomes]
rs17165736	0.85[AFR][1000 genomes]
rs17165737	0.85[AFR][1000 genomes]
rs17165744	0.82[AFR][1000 genomes]
rs17165746	0.85[AFR][1000 genomes]
rs17165810	1.00[EUR][1000 genomes]
rs17165812	1.00[EUR][1000 genomes]
rs2110714	1.00[EUR][1000 genomes]
rs2192835	1.00[EUR][1000 genomes]
rs4721033	1.00[EUR][1000 genomes]
rs4721034	1.00[EUR][1000 genomes]
rs60576080	1.00[EUR][1000 genomes]
rs60894519	1.00[EUR][1000 genomes]
rs61400397	1.00[EUR][1000 genomes]
rs6952547	1.00[EUR][1000 genomes]
rs6973077	1.00[EUR][1000 genomes]
rs6978684	0.82[AFR][1000 genomes]
rs73284389	0.82[AFR][1000 genomes]
rs73287176	1.00[EUR][1000 genomes]
rs73288387	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73299019	0.90[AFR][1000 genomes]
rs73299021	0.85[AFR][1000 genomes]
rs73299040	0.88[AFR][1000 genomes]
rs73301035	0.85[AFR][1000 genomes]
rs73301046	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73678628	1.00[EUR][1000 genomes]
rs73678641	1.00[EUR][1000 genomes]
rs73678643	1.00[EUR][1000 genomes]
rs73678645	1.00[EUR][1000 genomes]
rs73678692	0.90[AFR][1000 genomes]
rs7777276	1.00[EUR][1000 genomes]
rs7785068	1.00[EUR][1000 genomes]
rs7790766	1.00[EUR][1000 genomes]
rs7791073	1.00[EUR][1000 genomes]
rs7791085	1.00[EUR][1000 genomes]
rs7807215	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv606199	chr7:11506143-12486659	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv534432	chr7:12148960-12693032	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1021710	chr7:12164993-12251790	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
4	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
5	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12249800-12250800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
2	chr7:12249800-12251000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr7:12249800-12251200	Active TSS	Rectal Mucosa Donor 31	rectum
4	chr7:12249800-12251400	Active TSS	Cortex derived primary cultured neurospheres	brain
5	chr7:12249800-12251400	Active TSS	Fetal Brain Female	brain
6	chr7:12249800-12251600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr7:12249800-12251600	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr7:12249800-12251600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr7:12249800-12251600	Active TSS	Brain Angular Gyrus	brain
10	chr7:12249800-12251600	Active TSS	Brain Substantia Nigra	brain
11	chr7:12249800-12251600	Active TSS	Duodenum Mucosa	Duodenum
12	chr7:12249800-12251600	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr7:12249800-12251600	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr7:12249800-12251600	Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr7:12249800-12251600	Active TSS	Stomach Smooth Muscle	stomach
16	chr7:12249800-12251600	Active TSS	NH-A	brain
17	chr7:12249800-12251800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr7:12249800-12251800	Active TSS	Brain Cingulate Gyrus	brain
19	chr7:12249800-12251800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr7:12249800-12252000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr7:12249800-12252200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr7:12249800-12252200	Active TSS	Right Atrium	heart
23	chr7:12249800-12253000	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr7:12250000-12251000	Active TSS	Primary T cells fromperipheralblood	blood
25	chr7:12250000-12251200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
26	chr7:12250000-12251200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
27	chr7:12250000-12251400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
28	chr7:12250000-12251400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr7:12250000-12251600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
30	chr7:12250000-12251600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr7:12250000-12251600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr7:12250000-12251600	Active TSS	Liver	Liver
33	chr7:12250000-12251600	Active TSS	Colon Smooth Muscle	Colon
34	chr7:12250000-12251600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
35	chr7:12250000-12251600	Active TSS	Fetal Intestine Small	intestine
36	chr7:12250000-12251600	Active TSS	Fetal Lung	lung
37	chr7:12250000-12251600	Active TSS	Placenta	Placenta
38	chr7:12250000-12251600	Active TSS	Fetal Stomach	stomach
39	chr7:12250000-12251600	Active TSS	Placenta Amnion	Placenta Amnion
40	chr7:12250000-12251600	Active TSS	Psoas Muscle	Psoas
41	chr7:12250000-12251600	Active TSS	Stomach Mucosa	stomach
42	chr7:12250000-12251600	Active TSS	Thymus	Thymus
43	chr7:12250000-12251600	Active TSS	Hela-S3	cervix
44	chr7:12250000-12251600	Active TSS	HSMMtube	muscle
45	chr7:12250000-12251600	Active TSS	NHEK	skin
46	chr7:12250000-12251800	Active TSS	H1 Cell Line	embryonic stem cell
47	chr7:12250000-12251800	Active TSS	H9 Cell Line	embryonic stem cell
48	chr7:12250000-12251800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr7:12250000-12251800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr7:12250000-12251800	Active TSS	Aorta	Aorta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links