Variant report

Variant	rs1153834
Chromosome Location	chr15:45749917-45749918
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	CTCF	chr15:45749844-45750036	GM19239	blood:	n/a	chr15:45749922-45749938 chr15:45749921-45749939 chr15:45749923-45749936 chr15:45749916-45749937
2	TBP	chr15:45749840-45749960	GM12878	blood:	n/a	n/a
3	CTCF	chr15:45749820-45750031	GM19238	blood:	n/a	chr15:45749922-45749938 chr15:45749921-45749939 chr15:45749923-45749936 chr15:45749916-45749937
4	CTCF	chr15:45749865-45750033	GM20000	blood:	n/a	chr15:45749922-45749938 chr15:45749921-45749939 chr15:45749923-45749936 chr15:45749916-45749937
5	CTCF	chr15:45749860-45750010	HL-60	blood:	n/a	chr15:45749922-45749938 chr15:45749921-45749939 chr15:45749923-45749936 chr15:45749916-45749937
6	JUND	chr15:45748194-45750692	SK-N-SH	brain:	n/a	chr15:45748929-45748938 chr15:45748992-45749004 chr15:45748993-45749003 chr15:45748993-45749003 chr15:45748993-45749002 chr15:45748993-45749003 chr15:45749399-45749408
7	CTCF	chr15:45749860-45750010	Caco-2	colon:	n/a	chr15:45749922-45749938 chr15:45749921-45749939 chr15:45749923-45749936 chr15:45749916-45749937
8	CTCF	chr15:45749651-45750449	T-47D	breast:	n/a	chr15:45749922-45749938 chr15:45750310-45750328 chr15:45750311-45750327 chr15:45749921-45749939 chr15:45750315-45750323 chr15:45749923-45749936 chr15:45749916-45749937
9	RAD21	chr15:45749547-45750649	MCF-7	breast:	n/a	chr15:45750311-45750330 chr15:45749919-45749938 chr15:45750315-45750324 chr15:45750313-45750320
10	JUN	chr15:45749766-45750443	K562	blood:	n/a	n/a
11	CTCF	chr15:45749854-45750006	ProgFib	skin:	n/a	chr15:45749922-45749938 chr15:45749921-45749939 chr15:45749923-45749936 chr15:45749916-45749937
12	RAD21	chr15:45749550-45750498	H1-hESC	embryonic stem cell:	n/a	chr15:45750311-45750330 chr15:45749919-45749938 chr15:45750315-45750324 chr15:45750313-45750320
13	MYC	chr15:45749756-45750805	NB4	blood:	n/a	n/a
14	CTCF	chr15:45749873-45749982	Fibrobl	skin:	n/a	chr15:45749922-45749938 chr15:45749921-45749939 chr15:45749923-45749936 chr15:45749916-45749937
15	CTCF	chr15:45749840-45749990	HFF	foreskin:	n/a	chr15:45749922-45749938 chr15:45749921-45749939 chr15:45749923-45749936 chr15:45749916-45749937
16	RAD21	chr15:45749607-45750555	GM12878	blood:	n/a	chr15:45750311-45750330 chr15:45749919-45749938 chr15:45750315-45750324 chr15:45750313-45750320
17	FOS	chr15:45749782-45750034	MCF10A-Er-Src	breast:	n/a	n/a
18	CTCF	chr15:45749880-45750030	HA-sp	spinal cord:	n/a	chr15:45749922-45749938 chr15:45749921-45749939 chr15:45749923-45749936 chr15:45749916-45749937
19	CTCF	chr15:45749784-45750076	Medullo	brain:	n/a	chr15:45749922-45749938 chr15:45749921-45749939 chr15:45749923-45749936 chr15:45749916-45749937
20	CTCF	chr15:45749811-45750065	Hela-S3	cervix:	n/a	chr15:45749922-45749938 chr15:45749921-45749939 chr15:45749923-45749936 chr15:45749916-45749937
21	RCOR1	chr15:45749756-45750498	K562	blood:	n/a	n/a
22	CTCF	chr15:45749860-45750010	AG09319	gingival:	n/a	chr15:45749922-45749938 chr15:45749921-45749939 chr15:45749923-45749936 chr15:45749916-45749937
23	CTCF	chr15:45749840-45749990	GM12872	blood:	n/a	chr15:45749922-45749938 chr15:45749921-45749939 chr15:45749923-45749936 chr15:45749916-45749937
24	CUX1	chr15:45749851-45750249	GM12878	blood:	n/a	n/a
25	CTCF	chr15:45749620-45750555	MCF-7	breast:	n/a	chr15:45749922-45749938 chr15:45750310-45750328 chr15:45750311-45750327 chr15:45749921-45749939 chr15:45750315-45750323 chr15:45749923-45749936 chr15:45749916-45749937
26	USF1	chr15:45749880-45750055	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr15:45749640-45750602	A549	lung:	n/a	chr15:45749922-45749938 chr15:45750310-45750328 chr15:45750311-45750327 chr15:45749921-45749939 chr15:45750315-45750323 chr15:45749923-45749936 chr15:45749916-45749937
28	CTCF	chr15:45749661-45751354	GM12878	blood:	n/a	chr15:45749922-45749938 chr15:45750310-45750328 chr15:45750311-45750327 chr15:45751149-45751167 chr15:45749921-45749939 chr15:45750315-45750323 chr15:45751151-45751172 chr15:45751150-45751166 chr15:45749923-45749936 chr15:45749916-45749937 chr15:45751154-45751162
29	BHLHE40	chr15:45749801-45750479	GM12878	blood:	n/a	n/a
30	CTCF	chr15:45749860-45750010	WI-38	lung:	n/a	chr15:45749922-45749938 chr15:45749921-45749939 chr15:45749923-45749936 chr15:45749916-45749937
31	CTCF	chr15:45749694-45750521	A549	lung:	n/a	chr15:45749922-45749938 chr15:45750310-45750328 chr15:45750311-45750327 chr15:45749921-45749939 chr15:45750315-45750323 chr15:45749923-45749936 chr15:45749916-45749937
32	CTCF	chr15:45749825-45750060	GM13977	blood:	n/a	chr15:45749922-45749938 chr15:45749921-45749939 chr15:45749923-45749936 chr15:45749916-45749937
33	CTCF	chr15:45749722-45750484	K562	blood:	n/a	chr15:45749922-45749938 chr15:45750310-45750328 chr15:45750311-45750327 chr15:45749921-45749939 chr15:45750315-45750323 chr15:45749923-45749936 chr15:45749916-45749937
34	CTCF	chr15:45749410-45751350	IMR90	lung:	n/a	chr15:45749922-45749938 chr15:45750310-45750328 chr15:45750311-45750327 chr15:45751149-45751167 chr15:45749921-45749939 chr15:45750315-45750323 chr15:45751151-45751172 chr15:45751150-45751166 chr15:45749923-45749936 chr15:45749916-45749937 chr15:45751154-45751162
35	CTCF	chr15:45749840-45749990	Hela-S3	cervix:	n/a	chr15:45749922-45749938 chr15:45749921-45749939 chr15:45749923-45749936 chr15:45749916-45749937
36	CTCF	chr15:45749880-45750030	WERI-Rb-1	eye:	n/a	chr15:45749922-45749938 chr15:45749921-45749939 chr15:45749923-45749936 chr15:45749916-45749937
37	CTCF	chr15:45749820-45749970	GM12874	blood:	n/a	chr15:45749922-45749938 chr15:45749921-45749939 chr15:45749923-45749936 chr15:45749916-45749937
38	GATA2	chr15:45749402-45750290	HUVEC	blood vessel:	n/a	n/a
39	CTCF	chr15:45749880-45750030	AG04450	lung:	n/a	chr15:45749922-45749938 chr15:45749921-45749939 chr15:45749923-45749936 chr15:45749916-45749937
40	CTCF	chr15:45749840-45749990	GM12871	blood:	n/a	chr15:45749922-45749938 chr15:45749921-45749939 chr15:45749923-45749936 chr15:45749916-45749937
41	CTCF	chr15:45749682-45750546	HepG2	liver:	n/a	chr15:45749922-45749938 chr15:45750310-45750328 chr15:45750311-45750327 chr15:45749921-45749939 chr15:45750315-45750323 chr15:45749923-45749936 chr15:45749916-45749937
42	CTCF	chr15:45749840-45749990	GM12865	blood:	n/a	chr15:45749922-45749938 chr15:45749921-45749939 chr15:45749923-45749936 chr15:45749916-45749937
43	CUX1	chr15:45749830-45750103	K562	blood:	n/a	n/a
44	CTCF	chr15:45749820-45749970	BE2_C	brain:	n/a	chr15:45749922-45749938 chr15:45749921-45749939 chr15:45749923-45749936 chr15:45749916-45749937
45	MAFK	chr15:45749560-45750780	Hela-S3	cervix:	n/a	n/a
46	CTCF	chr15:45749814-45750065	K562	blood:	n/a	chr15:45749922-45749938 chr15:45749921-45749939 chr15:45749923-45749936 chr15:45749916-45749937
47	CTCF	chr15:45749900-45750050	GM12872	blood:	n/a	chr15:45749922-45749938 chr15:45749921-45749939 chr15:45749923-45749936 chr15:45749916-45749937
48	SMC3	chr15:45748640-45751360	Hela-S3	cervix:	n/a	chr15:45749923-45749937 chr15:45750312-45750326 chr15:45751151-45751165
49	CTCF	chr15:45749765-45750483	ECC-1	luminal epithelium:	n/a	chr15:45749922-45749938 chr15:45750310-45750328 chr15:45750311-45750327 chr15:45749921-45749939 chr15:45750315-45750323 chr15:45749923-45749936 chr15:45749916-45749937
50	SMC3	chr15:45749683-45751577	GM12878	blood:	n/a	chr15:45749923-45749937 chr15:45750312-45750326 chr15:45751151-45751165

No.	Distal block	Cell Line	Cell type
1	chr15:45749404..45751481-chr15:45878948..45881186,2	K562	blood:
2	chr15:45455299..45455941-chr15:45749596..45750400,4	K562	blood:
3	chr15:45721836..45723115-chr15:45748925..45751188,14	K562	blood:
4	chr15:45471040..45471975-chr15:45749448..45750391,3	K562	blood:
5	chr15:45723297..45724086-chr15:45749264..45750136,2	MCF-7	breast:
6	chr15:45721027..45721855-chr15:45749205..45750034,2	MCF-7	breast:
7	chr15:45722040..45723226-chr15:45748321..45751272,60	MCF-7	breast:
8	chr15:45693234..45695210-chr15:45748321..45750226,2	MCF-7	breast:
9	chr15:45457607..45459113-chr15:45748789..45750442,2	K562	blood:
10	chr15:45497043..45498021-chr15:45749432..45750263,4	K562	blood:
11	chr15:45724921..45725750-chr15:45749427..45750406,2	K562	blood:
12	chr15:45722136..45723142-chr15:45749242..45750517,32	MCF-7	breast:
13	chr15:45749728..45751620-chr15:45879079..45880705,2	MCF-7	breast:
14	chr15:45749872..45750821-chr15:45905552..45906324,3	MCF-7	breast:
15	chr15:45459360..45460864-chr15:45748404..45750669,2	K562	blood:
16	chr15:45598944..45599924-chr15:45749735..45750683,4	K562	blood:
17	chr15:45737247..45739664-chr15:45747415..45750054,2	K562	blood:

Variant related genes	Relation type
ENSG00000259354	TF binding region
ENSG00000211519	Chromatin interaction
ENSG00000171766	Chromatin interaction
ENSG00000171763	Chromatin interaction
ENSG00000259539	Chromatin interaction
ENSG00000252285	Chromatin interaction
ENSG00000166920	Chromatin interaction
ENSG00000260170	Chromatin interaction
ENSG00000104164	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10519020	1.00[MEX][hapmap]
rs1145073	1.00[MEX][hapmap]
rs1153851	1.00[MEX][hapmap]
rs1288845	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16941188	1.00[MEX][hapmap]
rs16941213	1.00[MEX][hapmap]
rs16941242	1.00[MEX][hapmap]
rs16941955	1.00[CHD][hapmap]
rs2433605	1.00[MEX][hapmap]
rs2433621	1.00[MEX][hapmap]
rs2453522	0.84[YRI][hapmap]
rs2453524	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2453526	1.00[MEX][hapmap]
rs2467857	1.00[MEX][hapmap]
rs2486281	0.93[YRI][hapmap]
rs2486282	1.00[MEX][hapmap];0.88[YRI][hapmap]
rs2486289	1.00[MEX][hapmap]
rs57456338	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916374	chr15:45058112-45769052	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv932147	chr15:45319178-45872076	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv569315	chr15:45446156-45772448	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
4	nsv469721	chr15:45608881-45788002	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
5	nsv482380	chr15:45608881-45788002	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
6	nsv1523	chr15:45749900-45783825	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45746000-45750000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr15:45746000-45750000	Enhancers	Stomach Mucosa	stomach
3	chr15:45746200-45750000	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr15:45746200-45750000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr15:45746200-45750000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr15:45746200-45750000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr15:45746200-45750800	Enhancers	Placenta Amnion	Placenta Amnion
8	chr15:45746400-45750000	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr15:45746400-45750000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr15:45746400-45750000	Enhancers	Placenta	Placenta
11	chr15:45746600-45750000	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr15:45746600-45750000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr15:45746600-45750000	Enhancers	HSMM	muscle
14	chr15:45746800-45750000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr15:45746800-45750000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr15:45746800-45750000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr15:45746800-45750000	Enhancers	NHDF-Ad	bronchial
18	chr15:45746800-45750400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr15:45747000-45750000	Weak transcription	Fetal Heart	heart
20	chr15:45747200-45750000	Enhancers	NHLF	lung
21	chr15:45747600-45750000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr15:45747600-45750000	Enhancers	Primary T cells fromperipheralblood	blood
23	chr15:45747600-45750000	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr15:45747600-45750000	Enhancers	Muscle Satellite Cultured Cells	--
25	chr15:45747800-45750000	Enhancers	Primary B cells from peripheral blood	blood
26	chr15:45747800-45750000	Weak transcription	Adipose Nuclei	Adipose
27	chr15:45748400-45750000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr15:45748400-45750000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
29	chr15:45748400-45750800	Flanking Active TSS	Hela-S3	cervix
30	chr15:45748600-45750000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr15:45748600-45750000	Enhancers	Colon Smooth Muscle	Colon
32	chr15:45748600-45750000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr15:45748600-45750200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr15:45749000-45750000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr15:45749000-45750000	Enhancers	Fetal Intestine Large	intestine
36	chr15:45749000-45750200	Weak transcription	Pancreas	Pancrea
37	chr15:45749000-45750800	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr15:45749000-45751000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr15:45749200-45750000	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr15:45749200-45750000	Weak transcription	Fetal Muscle Leg	muscle
41	chr15:45749200-45750000	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr15:45749200-45750000	Weak transcription	HSMMtube	muscle
43	chr15:45749200-45750400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr15:45749200-45751000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr15:45749200-45751800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr15:45749200-45753200	Weak transcription	Gastric	stomach
47	chr15:45749400-45750000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr15:45749400-45750000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr15:45749400-45750000	Enhancers	A549	lung
50	chr15:45749400-45750000	Enhancers	HepG2	liver

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