Variant report

Variant	rs36061550
Chromosome Location	chr4:99851411-99851412
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	TCF12	chr4:99849142-99851538	A549	lung:	n/a	chr4:99851483-99851493
2	MAZ	chr4:99849208-99851675	GM12878	blood:	n/a	chr4:99850500-99850513 chr4:99850501-99850512 chr4:99850349-99850358 chr4:99850502-99850511 chr4:99850348-99850359 chr4:99850349-99850358 chr4:99850502-99850511
3	EP300	chr4:99850851-99851432	A549	lung:	n/a	chr4:99851408-99851418 chr4:99850904-99850920
4	POLR2A	chr4:99849077-99851453	GM12892	blood:	n/a	n/a
5	POLR2A	chr4:99848809-99851484	GM12891	blood:	n/a	n/a
6	SP1	chr4:99851063-99851508	GM12878	blood:	n/a	n/a
7	MXI1	chr4:99848834-99852022	IMR90	lung:	n/a	chr4:99850350-99850359 chr4:99850501-99850510
8	ZNF143	chr4:99849203-99851428	GM12878	blood:	n/a	chr4:99850420-99850438
9	RCOR1	chr4:99849224-99851586	K562	blood:	n/a	n/a
10	MAX	chr4:99849055-99851539	A549	lung:	n/a	chr4:99850500-99850513 chr4:99850501-99850512 chr4:99850349-99850358 chr4:99850502-99850511 chr4:99850348-99850359 chr4:99850349-99850358 chr4:99850502-99850511
11	STAT5A	chr4:99849142-99851532	GM12878	blood:	n/a	chr4:99851324-99851333 chr4:99849231-99849238 chr4:99850423-99850431 chr4:99849225-99849236 chr4:99850417-99850437
12	MEF2A	chr4:99850953-99851606	GM12878	blood:	n/a	chr4:99851374-99851395
13	POLR2A	chr4:99849157-99851512	U87	brain:	n/a	n/a
14	JUND	chr4:99850783-99851592	SK-N-SH	brain:	n/a	n/a
15	POLR2A	chr4:99848881-99851439	K562	blood:	n/a	n/a
16	JUND	chr4:99850991-99851556	Hela-S3	cervix:	n/a	n/a
17	JUN	chr4:99850068-99851745	K562	blood:	n/a	chr4:99850706-99850715
18	PBX3	chr4:99850894-99851494	SK-N-SH	brain:	n/a	n/a
19	NFATC1	chr4:99851012-99851552	GM12878	blood:	n/a	n/a
20	EP300	chr4:99851040-99851467	Hela-S3	cervix:	n/a	chr4:99851408-99851418
21	TBP	chr4:99850103-99851590	GM12878	blood:	n/a	n/a
22	CREB1	chr4:99848983-99851682	K562	blood:	n/a	chr4:99850500-99850513
23	POLR2A	chr4:99850786-99851430	GM12891	blood:	n/a	n/a
24	MAZ	chr4:99849230-99851803	K562	blood:	n/a	chr4:99850500-99850513 chr4:99850501-99850512 chr4:99850349-99850358 chr4:99850502-99850511 chr4:99850348-99850359 chr4:99850349-99850358 chr4:99850502-99850511
25	ZNF384	chr4:99848702-99851639	GM12878	blood:	n/a	n/a
26	POLR2A	chr4:99848923-99851765	K562	blood:	n/a	n/a
27	STAT5A	chr4:99851067-99851477	GM12878	blood:	n/a	chr4:99851324-99851333
28	SP1	chr4:99849760-99851529	A549	lung:	n/a	chr4:99850938-99850950 chr4:99850005-99850019 chr4:99850218-99850228 chr4:99850005-99850015 chr4:99850214-99850228 chr4:99850005-99850014 chr4:99850004-99850016 chr4:99850006-99850015 chr4:99850218-99850227 chr4:99850004-99850016 chr4:99850938-99850950
29	EP300	chr4:99850076-99851483	GM12878	blood:	n/a	chr4:99851408-99851418 chr4:99850745-99850755 chr4:99850904-99850920
30	POLR2A	chr4:99850063-99851450	HUVEC	blood vessel:	n/a	n/a
31	MAX	chr4:99849142-99851778	Hela-S3	cervix:	n/a	chr4:99850500-99850513 chr4:99850501-99850512 chr4:99850349-99850358 chr4:99850502-99850511 chr4:99850348-99850359 chr4:99850349-99850358 chr4:99850502-99850511
32	FOS	chr4:99850950-99851872	MCF10A-Er-Src	breast:	n/a	chr4:99851177-99851188
33	TEAD4	chr4:99849765-99851693	K562	blood:	n/a	n/a
34	POLR2A	chr4:99849110-99851483	K562	blood:	n/a	n/a
35	EP300	chr4:99851135-99851719	GM12878	blood:	n/a	chr4:99851408-99851418 chr4:99851664-99851678
36	NFATC1	chr4:99849814-99851773	GM12878	blood:	n/a	n/a
37	POLR2A	chr4:99849254-99851418	GM12878	blood:	n/a	n/a
38	POLR2A	chr4:99849098-99851504	HUVEC	blood vessel:	n/a	n/a
39	BRCA1	chr4:99850120-99851610	Hela-S3	cervix:	n/a	n/a
40	STAT3	chr4:99851055-99851453	Hela-S3	cervix:	n/a	chr4:99851324-99851333
41	SP1	chr4:99851022-99851423	GM12878	blood:	n/a	n/a
42	PML	chr4:99848940-99851627	GM12878	blood:	n/a	n/a
43	FOS	chr4:99850946-99851503	MCF10A-Er-Src	breast:	n/a	chr4:99851177-99851188
44	ZKSCAN1	chr4:99850004-99851528	Hela-S3	cervix:	n/a	n/a
45	TBP	chr4:99850057-99851450	Hela-S3	cervix:	n/a	n/a
46	STAT3	chr4:99850991-99851491	MCF10A-Er-Src	breast:	n/a	chr4:99851324-99851333
47	CEBPB	chr4:99850914-99851467	A549	lung:	n/a	n/a
48	KAP1	chr4:99850229-99851552	U2OS	brain:	n/a	n/a
49	MAX	chr4:99850858-99851511	SK-N-SH	brain:	n/a	n/a
50	GATA1	chr4:99849966-99851462	PBDE	blood:	n/a	chr4:99850618-99850626

No.	Distal block	Cell Line	Cell type
1	chr4:99848351..99851753-chr4:99915675..99920876,6	MCF-7	breast:
2	chr4:99849107..99853067-chr4:99958393..99961916,5	K562	blood:
3	chr4:99849436..99851753-chr4:99986729..99991688,5	K562	blood:
4	chr4:99849574..99853806-chr4:100008192..100011466,4	MCF-7	breast:
5	chr4:99850379..99851880-chr4:100869996..100872136,2	K562	blood:
6	chr4:99661713..99664313-chr4:99850312..99852279,2	K562	blood:
7	chr4:99849612..99852371-chr4:100007085..100010224,5	K562	blood:
8	chr4:99846410..99852563-chr4:99914756..99918771,11	MCF-7	breast:
9	chr4:99848192..99852255-chr4:100007586..100012546,7	K562	blood:
10	chr11:62618290..62621196-chr4:99849951..99851477,2	K562	blood:
11	chr4:99848722..99851880-chr4:100870275..100872713,4	K562	blood:
12	chr4:99847842..99851448-chr4:99963294..99966988,3	K562	blood:
13	chr4:99842136..99852937-chr4:99913200..99922220,39	K562	blood:
14	chr4:99850538..99853067-chr4:99958598..99961528,2	K562	blood:
15	chr4:99844460..99852883-chr4:99909835..99921707,41	K562	blood:
16	chr4:99848578..99852948-chr4:99876464..99882582,7	K562	blood:

Variant related genes	Relation type
ENSG00000238449	TF binding region
EIF4E	TF binding region
ENSG00000197894	Chromatin interaction
ENSG00000214886	Chromatin interaction
ENSG00000164032	Chromatin interaction
ENSG00000245322	Chromatin interaction
ENSG00000272777	Chromatin interaction
ENSG00000246090	Chromatin interaction
ENSG00000255717	Chromatin interaction
ENSG00000164024	Chromatin interaction
ENSG00000227118	Chromatin interaction
ENSG00000265213	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1154412	1.00[ASN][1000 genomes]
rs11722494	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11727079	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11727086	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11731092	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11735758	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11736580	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13107184	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13107892	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13110878	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13115072	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13115688	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13124855	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13127259	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13130454	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13133934	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13832	1.00[ASN][1000 genomes]
rs17511498	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17570252	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17583053	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1992569	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2004994	1.00[ASN][1000 genomes]
rs2230574	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3018048	1.00[ASN][1000 genomes]
rs34073334	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs34116542	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34164768	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34445885	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34552530	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34849916	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35019647	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35360485	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35619083	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35885444	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4699369	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4699689	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4699692	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62323189	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62323190	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62323206	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67650226	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72692635	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7688221	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7688461	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs896992	1.00[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	nsv1009017	chr4:99669441-100406394	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv879654	chr4:99748988-99877402	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99847800-99851600	Active TSS	Psoas Muscle	Psoas
2	chr4:99848600-99851600	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr4:99848600-99851800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:99848600-99852000	Active TSS	A549	lung
5	chr4:99848800-99851600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr4:99848800-99851600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr4:99848800-99851600	Active TSS	Right Ventricle	heart
8	chr4:99849000-99851600	Active TSS	Primary T killer memory cells from peripheral blood	blood
9	chr4:99849000-99851600	Active TSS	Right Atrium	heart
10	chr4:99849200-99851800	Active TSS	Brain Anterior Caudate	brain
11	chr4:99849200-99851800	Active TSS	Colon Smooth Muscle	Colon
12	chr4:99849400-99851600	Active TSS	Thymus	Thymus
13	chr4:99849600-99851600	Active TSS	Primary T cells from cord blood	blood
14	chr4:99849600-99851600	Active TSS	Adipose Nuclei	Adipose
15	chr4:99850000-99851600	Active TSS	HepG2	liver
16	chr4:99850200-99851600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr4:99850200-99851800	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr4:99850600-99851800	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr4:99850600-99852000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr4:99850600-99852000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr4:99850800-99851600	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr4:99850800-99851600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
23	chr4:99850800-99851600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
24	chr4:99850800-99851800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr4:99850800-99851800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr4:99850800-99851800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
27	chr4:99850800-99852000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr4:99850800-99852000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
29	chr4:99850800-99852000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
30	chr4:99850800-99852000	Flanking Active TSS	Dnd41	blood
31	chr4:99850800-99852000	Flanking Active TSS	NH-A	brain
32	chr4:99851000-99851800	Flanking Active TSS	Brain Hippocampus Middle	brain
33	chr4:99851000-99852000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr4:99851000-99852000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
35	chr4:99851000-99852000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr4:99851200-99851600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
37	chr4:99851200-99851600	Flanking Active TSS	Duodenum Mucosa	Duodenum
38	chr4:99851200-99851600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
39	chr4:99851200-99851600	Enhancers	Fetal Stomach	stomach
40	chr4:99851200-99851800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
41	chr4:99851200-99851800	Flanking Active TSS	Brain Cingulate Gyrus	brain
42	chr4:99851200-99851800	Enhancers	Fetal Heart	heart
43	chr4:99851200-99852000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
44	chr4:99851200-99852000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr4:99851200-99852000	Enhancers	Stomach Mucosa	stomach
46	chr4:99851200-99852200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
47	chr4:99851400-99851600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
48	chr4:99851400-99851600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
49	chr4:99851400-99851600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr4:99851400-99851600	Enhancers	Brain Substantia Nigra	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links