Variant report

Variant	rs34552461
Chromosome Location	chr15:75076960-75076961
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:68)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:68 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr15:75076940-75077090	GM12870	blood:	n/a	n/a
2	CTCF	chr15:75076820-75076970	GM12866	blood:	n/a	n/a
3	BHLHE40	chr15:75076693-75076996	GM12878	blood:	n/a	n/a
4	CTCF	chr15:75076900-75077050	GM12878	blood:	n/a	n/a
5	NFYB	chr15:75076714-75077026	GM12878	blood:	n/a	n/a
6	YY1	chr15:75076801-75077253	GM12878	blood:	n/a	n/a
7	CTCF	chr15:75076916-75077075	GM19240	blood:	n/a	n/a
8	CTCF	chr15:75076960-75077110	GM12865	blood:	n/a	n/a
9	CTCF	chr15:75076900-75077050	GM12869	blood:	n/a	n/a
10	WRNIP1	chr15:75075080-75078241	GM12878	blood:	n/a	n/a
11	EBF1	chr15:75076746-75077113	GM12878	blood:	n/a	n/a
12	POLR2A	chr15:75076731-75083396	GM12892	blood:	n/a	n/a
13	POLR2A	chr15:75072814-75083294	GM19099	blood:	n/a	n/a
14	POLR2A	chr15:75072482-75083351	GM12878	blood:	n/a	n/a
15	CTCF	chr15:75076880-75077030	GM12871	blood:	n/a	n/a
16	POLR2A	chr15:75076765-75077093	GM12892	blood:	n/a	n/a
17	CTCF	chr15:75076960-75077110	GM12878	blood:	n/a	n/a
18	POLR2A	chr15:75074913-75078439	GM12878	blood:	n/a	n/a
19	POLR2A	chr15:75072912-75077100	GM19193	blood:	n/a	n/a
20	CTCF	chr15:75076860-75077010	GM12873	blood:	n/a	n/a
21	CTCF	chr15:75076889-75077050	GM12891	blood:	n/a	n/a
22	IKZF1	chr15:75076725-75077060	GM12878	blood:	n/a	n/a
23	NFIC	chr15:75076764-75077834	GM12878	blood:	n/a	n/a
24	MTA3	chr15:75074835-75078490	GM12878	blood:	n/a	n/a
25	PML	chr15:75075852-75078332	GM12878	blood:	n/a	n/a
26	CTCF	chr15:75076960-75077110	GM12864	blood:	n/a	n/a
27	CTCF	chr15:75076920-75077070	GM12864	blood:	n/a	n/a
28	CTCF	chr15:75076840-75076990	GM12866	blood:	n/a	n/a
29	CTCF	chr15:75076860-75077010	GM12865	blood:	n/a	n/a
30	ELF1	chr15:75075194-75077306	GM12878	blood:	n/a	chr15:75076032-75076045 chr15:75076034-75076043
31	CTCF	chr15:75076880-75077030	GM12868	blood:	n/a	n/a
32	POLR2A	chr15:75072953-75077123	GM18951	blood:	n/a	n/a
33	USF2	chr15:75076684-75076998	GM12878	blood:	n/a	n/a
34	POLR2A	chr15:75072603-75078342	GM18505	blood:	n/a	n/a
35	CTCF	chr15:75076917-75077012	GM12878	blood:	n/a	n/a
36	CTCF	chr15:75076900-75077050	GM12867	blood:	n/a	n/a
37	CTCF	chr15:75076920-75077070	GM12871	blood:	n/a	n/a
38	CTCF	chr15:75076880-75077030	GM12872	blood:	n/a	n/a
39	CTCF	chr15:75076940-75077090	GM12874	blood:	n/a	n/a
40	POLR2A	chr15:75075481-75078388	GM12878	blood:	n/a	n/a
41	POLR2A	chr15:75076910-75077030	GM12878	blood:	n/a	n/a
42	CTCF	chr15:75076920-75077070	GM12872	blood:	n/a	n/a
43	STAT5A	chr15:75074887-75077364	GM12878	blood:	n/a	chr15:75074970-75074982 chr15:75074971-75074983 chr15:75075961-75075973 chr15:75075149-75075161 chr15:75075406-75075418
44	CTCF	chr15:75076900-75077050	GM06990	blood:	n/a	n/a
45	CTCF	chr15:75076920-75077070	GM12873	blood:	n/a	n/a
46	CTCF	chr15:75076820-75076970	GM12868	blood:	n/a	n/a
47	CTCF	chr15:75076900-75077050	GM12875	blood:	n/a	n/a
48	POLR2A	chr15:75072699-75083327	GM12878	blood:	n/a	n/a
49	CTCF	chr15:75076850-75077151	GM12878	blood:	n/a	n/a
50	RUNX3	chr15:75076717-75077146	GM12878	blood:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:75073376..75079113-chr15:75130007..75137097,15	MCF-7	breast:
2	chr15:75043196..75045391-chr15:75075402..75077625,2	K562	blood:
3	chr15:75076309..75078257-chr15:75245859..75248166,2	K562	blood:
4	chr15:75075306..75077471-chr15:75113085..75115871,2	K562	blood:
5	chr15:75075890..75077943-chr15:75083927..75085940,3	K562	blood:
6	chr15:75072512..75079183-chr15:75180576..75186728,11	MCF-7	breast:
7	chr15:75073170..75080511-chr15:75126432..75130376,7	MCF-7	breast:
8	chr15:75074533..75077400-chr15:75247038..75249331,2	MCF-7	breast:
9	chr15:75074533..75077222-chr15:75090764..75094129,5	MCF-7	breast:
10	chr15:74927915..74930465-chr15:75075287..75077377,2	MCF-7	breast:
11	chr15:75074156..75079604-chr15:75107384..75112501,9	MCF-7	breast:
12	chr15:75072350..75078841-chr15:75107920..75114107,12	MCF-7	breast:
13	chr15:75069513..75071369-chr15:75076004..75078063,2	K562	blood:
14	chr15:74915721..74919302-chr15:75074662..75077539,3	MCF-7	breast:
15	chr15:75072261..75077453-chr15:75091040..75094267,5	K562	blood:

No data

Variant related genes	Relation type
CSK	TF binding region
ENSG00000179335	Chromatin interaction
ENSG00000261606	Chromatin interaction
ENSG00000178802	Chromatin interaction
ENSG00000179151	Chromatin interaction
ENSG00000140506	Chromatin interaction
ENSG00000140474	Chromatin interaction
ENSG00000178718	Chromatin interaction
ENSG00000103653	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2230479	0.83[AMR][1000 genomes]
rs34417906	0.81[AFR][1000 genomes]
rs35231030	0.82[AFR][1000 genomes]
rs35962255	0.82[AFR][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	nsv904380	chr15:74869438-75142761	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv833055	chr15:74988344-75166288	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 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	chr15:75074000-75077000	Active TSS	Primary T killer memory cells from peripheral blood	blood
2	chr15:75074200-75077000	Active TSS	Primary T helper cells PMA-I stimulated	--
3	chr15:75074800-75077400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
4	chr15:75075000-75077000	Flanking Active TSS	Adipose Nuclei	Adipose
5	chr15:75075000-75077200	Flanking Active TSS	Colonic Mucosa	Colon
6	chr15:75075000-75077200	Flanking Active TSS	Fetal Brain Female	brain
7	chr15:75075000-75077400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
8	chr15:75075000-75077600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr15:75075000-75077600	Flanking Active TSS	Primary B cells from cord blood	blood
10	chr15:75075000-75077600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
11	chr15:75075000-75078200	Flanking Active TSS	Primary hematopoietic stem cells	blood
12	chr15:75075000-75078400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr15:75075000-75078800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr15:75075200-75077000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
15	chr15:75075200-75077000	Flanking Active TSS	Liver	Liver
16	chr15:75075200-75077200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr15:75075200-75077200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr15:75075200-75078200	Flanking Active TSS	Duodenum Mucosa	Duodenum
19	chr15:75075400-75077200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
20	chr15:75075600-75077400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr15:75075600-75077600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
22	chr15:75075600-75077600	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
23	chr15:75075600-75080800	Enhancers	Fetal Heart	heart
24	chr15:75075600-75083400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr15:75075800-75078200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr15:75075800-75079600	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood
27	chr15:75075800-75082000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr15:75076000-75077200	Flanking Active TSS	Thymus	Thymus
29	chr15:75076000-75077800	Transcr. at gene 5' and 3'	Dnd41	blood
30	chr15:75076000-75079800	Flanking Active TSS	Primary T cells from cord blood	blood
31	chr15:75076000-75080400	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr15:75076000-75080600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr15:75076000-75080800	Enhancers	Fetal Brain Male	brain
34	chr15:75076200-75077000	Enhancers	Lung	lung
35	chr15:75076200-75078200	Enhancers	Pancreas	Pancrea
36	chr15:75076200-75079400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
37	chr15:75076200-75080000	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr15:75076200-75080000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr15:75076200-75080000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr15:75076200-75080200	Enhancers	Psoas Muscle	Psoas
41	chr15:75076200-75080200	Enhancers	Stomach Mucosa	stomach
42	chr15:75076400-75077000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr15:75076400-75077000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
44	chr15:75076400-75077000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr15:75076400-75077000	Enhancers	NH-A	brain
46	chr15:75076400-75077200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr15:75076400-75077200	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
48	chr15:75076400-75077600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr15:75076400-75077600	Active TSS	Rectal Smooth Muscle	rectum
50	chr15:75076400-75077600	Enhancers	Small Intestine	intestine

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