Variant report

Variant	rs372228574
Chromosome Location	chr15:99973441-99973442
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	POLR2A	chr15:99973410-99973880	MCF-7	breast:	n/a	n/a
2	EGR1	chr15:99973396-99974083	ECC-1	luminal epithelium:	n/a	chr15:99973738-99973749 chr15:99973823-99973836 chr15:99973740-99973749 chr15:99973737-99973751 chr15:99973739-99973749 chr15:99973739-99973749 chr15:99973737-99973750 chr15:99973737-99973750 chr15:99973739-99973748 chr15:99973772-99973786 chr15:99973738-99973749 chr15:99973738-99973752
3	CTCF	chr15:99973360-99973510	GM12873	blood:	n/a	n/a
4	TCF12	chr15:99973350-99974240	ECC-1	luminal epithelium:	n/a	n/a
5	CTCF	chr15:99973400-99973550	GM12875	blood:	n/a	n/a
6	EGR1	chr15:99973283-99974118	HCT-116	colon:	n/a	chr15:99973738-99973749 chr15:99973823-99973836 chr15:99973740-99973749 chr15:99973737-99973751 chr15:99973739-99973749 chr15:99973739-99973749 chr15:99973737-99973750 chr15:99973737-99973750 chr15:99973739-99973748 chr15:99973772-99973786 chr15:99973738-99973749 chr15:99973738-99973752
7	ELF1	chr15:99973145-99974012	GM12878	blood:	n/a	n/a
8	CTCF	chr15:99973340-99973490	GM12873	blood:	n/a	n/a
9	CTCF	chr15:99973300-99973450	GM12873	blood:	n/a	n/a
10	TCF12	chr15:99973359-99974672	ECC-1	luminal epithelium:	n/a	n/a
11	EGR1	chr15:99973398-99974214	HCT-116	colon:	n/a	chr15:99973738-99973749 chr15:99973823-99973836 chr15:99973740-99973749 chr15:99973737-99973751 chr15:99973739-99973749 chr15:99973739-99973749 chr15:99973737-99973750 chr15:99973737-99973750 chr15:99973739-99973748 chr15:99973772-99973786 chr15:99973738-99973749 chr15:99973738-99973752
12	POLR2A	chr15:99973359-99973828	GM12892	blood:	n/a	n/a
13	CTCF	chr15:99973340-99973490	GM12865	blood:	n/a	n/a
14	CTCF	chr15:99973360-99973510	GM12872	blood:	n/a	n/a
15	CTCF	chr15:99973300-99973450	GM12867	blood:	n/a	n/a
16	CTCF	chr15:99973300-99973450	HEK293	kidney:	n/a	n/a
17	NFIC	chr15:99973431-99974248	ECC-1	luminal epithelium:	n/a	n/a
18	CTCF	chr15:99973320-99973470	HEK293	kidney:	n/a	n/a
19	CTCF	chr15:99973300-99973450	SAEC	small airway:	n/a	n/a
20	EP300	chr15:99973366-99974225	ECC-1	luminal epithelium:	n/a	n/a
21	CTCF	chr15:99973300-99973450	GM12870	blood:	n/a	n/a
22	CTCF	chr15:99973300-99973450	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:99973224..99976448-chr15:99991050..99995157,5	MCF-7	breast:
2	chr15:99962979..99964880-chr15:99972892..99975204,2	MCF-7	breast:
3	chr15:99971316..99975999-chr15:100104042..100107403,7	MCF-7	breast:
4	chr15:99972525..99976931-chr15:99986719..99991606,5	MCF-7	breast:
5	chr15:99972394..99975109-chr15:99977541..99980166,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259341	TF binding region
ENSG00000068305	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055008	chr15:99477144-100019861	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv904543	chr15:99513231-99991506	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv533926	chr15:99519820-99997114	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv915926	chr15:99519820-100138705	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	nsv817289	chr15:99621061-100138705	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	nsv431411	chr15:99621061-100143999	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
7	nsv904546	chr15:99696046-100166300	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
8	nsv1036346	chr15:99752391-100365458	Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
9	nsv542520	chr15:99752391-100365458	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
10	nsv1051560	chr15:99837102-100124483	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
11	nsv817201	chr15:99839238-100537341	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
12	nsv904547	chr15:99940221-99979159	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv904548	chr15:99940221-99979418	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv904549	chr15:99940221-99991506	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv519800	chr15:99950772-99987109	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	nsv904550	chr15:99954278-99978524	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	nsv904551	chr15:99954278-99979418	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	nsv904552	chr15:99954278-99982447	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
19	nsv904553	chr15:99954278-99983175	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
20	nsv904554	chr15:99956954-99979418	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
21	nsv904555	chr15:99956954-99981269	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
22	nsv904556	chr15:99956954-99987109	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
23	nsv904557	chr15:99956954-99991506	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
24	nsv519319	chr15:99972661-99991506	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
25	nsv570728	chr15:99973369-99986764	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:99966400-99973600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr15:99966800-99975400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr15:99970000-99976800	Enhancers	Primary B cells from peripheral blood	blood
4	chr15:99971200-99974600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr15:99971200-99978000	Enhancers	Spleen	Spleen
6	chr15:99971400-99978800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr15:99971400-99979200	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr15:99971600-99973600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr15:99971600-99978800	Enhancers	Primary T cells from cord blood	blood
10	chr15:99971800-99974000	Enhancers	Thymus	Thymus
11	chr15:99971800-99976400	Enhancers	Primary B cells from cord blood	blood
12	chr15:99972000-99975200	Enhancers	Esophagus	oesophagus
13	chr15:99972000-99976000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr15:99972000-99976600	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr15:99972200-99974400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr15:99972200-99976200	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr15:99972200-99978600	Enhancers	Fetal Thymus	thymus
18	chr15:99972400-99974200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr15:99972400-99974400	Enhancers	Right Ventricle	heart
20	chr15:99972400-99975800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr15:99972400-99977400	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr15:99972600-99974200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr15:99972600-99974200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr15:99972600-99974400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
25	chr15:99972600-99974400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
26	chr15:99972600-99975200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr15:99972600-99975200	Enhancers	HMEC	breast
28	chr15:99972600-99975600	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr15:99972600-99976400	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr15:99972600-99976600	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr15:99972600-99977400	Enhancers	Placenta Amnion	Placenta Amnion
32	chr15:99972600-99979000	Enhancers	Left Ventricle	heart
33	chr15:99972800-99974000	Enhancers	Colonic Mucosa	Colon
34	chr15:99972800-99975000	Enhancers	GM12878-XiMat	blood
35	chr15:99972800-99976400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr15:99972800-99977800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr15:99972800-99978800	Enhancers	Lung	lung
38	chr15:99972800-99979000	Enhancers	Adipose Nuclei	Adipose
39	chr15:99973000-99974000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr15:99973000-99974000	Enhancers	Fetal Stomach	stomach
41	chr15:99973000-99974200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr15:99973000-99974600	Bivalent Enhancer	Fetal Muscle Leg	muscle
43	chr15:99973000-99975200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr15:99973200-99973600	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr15:99973200-99973800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
46	chr15:99973200-99973800	Enhancers	Muscle Satellite Cultured Cells	--
47	chr15:99973200-99973800	Enhancers	Ovary	ovary
48	chr15:99973200-99973800	Enhancers	HSMMtube	muscle
49	chr15:99973200-99974000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr15:99973200-99974000	Enhancers	Primary monocytes fromperipheralblood	blood

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