Variant report

Variant	rs72696919
Chromosome Location	chr1:152021278-152021279
allele	A/C
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	GATA3	chr1:152019972-152021348	T-47D	breast:	n/a	n/a
2	RAD21	chr1:152019966-152021390	MCF-7	breast:	n/a	chr1:152021081-152021094 chr1:152021077-152021091
3	MAX	chr1:152019922-152021446	A549	lung:	n/a	chr1:152021116-152021125 chr1:152021087-152021097
4	GATA3	chr1:152019956-152021301	T-47D	breast:	n/a	n/a
5	EP300	chr1:152019861-152021390	SK-N-SH	brain:	n/a	chr1:152021080-152021096 chr1:152020113-152020123 chr1:152020286-152020295
6	POLR2A	chr1:152018623-152021659	Hela-S3	cervix:	n/a	n/a
7	SP1	chr1:152019721-152021469	HCT-116	colon:	n/a	chr1:152021089-152021103 chr1:152020789-152020799 chr1:152021093-152021107 chr1:152020789-152020799
8	POLR2A	chr1:152019846-152021305	PBDE	blood:	n/a	n/a
9	TCF12	chr1:152019827-152021390	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr1:152019960-152021316	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr1:152020119-152021322	PANC-1	pancreas:	n/a	n/a
12	STAT3	chr1:152019817-152022637	MCF10A-Er-Src	breast:	n/a	chr1:152021147-152021159 chr1:152021094-152021106
13	TAF1	chr1:152019914-152021296	Hela-S3	cervix:	n/a	n/a
14	TCF12	chr1:152019914-152021407	MCF-7	breast:	n/a	n/a
15	JUND	chr1:152019991-152021279	A549	lung:	n/a	chr1:152020041-152020051 chr1:152021190-152021202 chr1:152020042-152020050 chr1:152020740-152020749 chr1:152020738-152020749 chr1:152020040-152020052
16	EP300	chr1:152019771-152021382	MCF-7	breast:	n/a	chr1:152021080-152021096 chr1:152020113-152020123 chr1:152020286-152020295
17	SMARCC1	chr1:152019824-152021330	Hela-S3	cervix:	n/a	chr1:152020740-152020749
18	PBX3	chr1:152020273-152021302	A549	lung:	n/a	n/a
19	FOXA1	chr1:152020045-152021350	T-47D	breast:	n/a	n/a
20	FOS	chr1:152019978-152021284	MCF10A-Er-Src	breast:	n/a	chr1:152020041-152020051 chr1:152021190-152021202 chr1:152020042-152020050 chr1:152020738-152020749 chr1:152020740-152020749 chr1:152020040-152020052
21	USF1	chr1:152020082-152021473	A549	lung:	n/a	chr1:152021081-152021097
22	PML	chr1:152019974-152021425	MCF-7	breast:	n/a	n/a
23	GATA3	chr1:152020621-152021465	MCF-7	breast:	n/a	n/a
24	STAT3	chr1:152019812-152021476	MCF10A-Er-Src	breast:	n/a	chr1:152021147-152021159 chr1:152021094-152021106
25	EP300	chr1:152020000-152021375	MCF-7	breast:	n/a	chr1:152021080-152021096 chr1:152020113-152020123 chr1:152020286-152020295
26	STAT1	chr1:152019969-152021659	Hela-S3	cervix:	n/a	chr1:152021147-152021159 chr1:152021094-152021106
27	SP1	chr1:152019791-152021473	A549	lung:	n/a	chr1:152021089-152021103 chr1:152020789-152020799 chr1:152021093-152021107 chr1:152020789-152020799
28	USF1	chr1:152021011-152021316	A549	lung:	n/a	chr1:152021081-152021097
29	JUN	chr1:152019740-152021379	K562	blood:	n/a	chr1:152020041-152020051 chr1:152021190-152021202 chr1:152020042-152020050 chr1:152020740-152020749 chr1:152020040-152020052
30	JUND	chr1:152019837-152022990	Hela-S3	cervix:	n/a	chr1:152020041-152020051 chr1:152021190-152021202 chr1:152020042-152020050 chr1:152020740-152020749 chr1:152020738-152020749 chr1:152020040-152020052
31	EP300	chr1:152019954-152021321	K562	blood:	n/a	chr1:152021080-152021096 chr1:152020113-152020123 chr1:152020286-152020295
32	GABPA	chr1:152019700-152021532	MCF-7	breast:	n/a	n/a
33	FOSL1	chr1:152019814-152021380	HCT-116	colon:	n/a	chr1:152020041-152020051 chr1:152021190-152021202 chr1:152020738-152020749 chr1:152020042-152020050 chr1:152020740-152020749 chr1:152020040-152020052
34	BCL3	chr1:152020132-152021515	A549	lung:	n/a	n/a
35	HDAC2	chr1:152019720-152021521	MCF-7	breast:	n/a	n/a
36	TCF7L2	chr1:152019898-152021429	MCF-7	breast:	n/a	chr1:152020042-152020051 chr1:152020062-152020076 chr1:152020064-152020073 chr1:152020739-152020748 chr1:152020063-152020073 chr1:152020740-152020749 chr1:152020061-152020077
37	TEAD4	chr1:152020351-152021449	A549	lung:	n/a	n/a
38	FOXM1	chr1:152019782-152021368	MCF-7	breast:	n/a	n/a
39	CEBPB	chr1:152020299-152021446	A549	lung:	n/a	n/a
40	USF1	chr1:152021055-152021377	A549	lung:	n/a	chr1:152021081-152021097
41	JUND	chr1:152019838-152021519	MCF-7	breast:	n/a	chr1:152020041-152020051 chr1:152021190-152021202 chr1:152020042-152020050 chr1:152020740-152020749 chr1:152020738-152020749 chr1:152020040-152020052
42	FOSL2	chr1:152019775-152021378	MCF-7	breast:	n/a	chr1:152020041-152020051 chr1:152021190-152021202 chr1:152020042-152020050 chr1:152020740-152020749 chr1:152020040-152020052
43	EP300	chr1:152020095-152021436	A549	lung:	n/a	chr1:152021080-152021096 chr1:152020113-152020123 chr1:152020286-152020295
44	USF1	chr1:152020924-152021354	A549	lung:	n/a	chr1:152021081-152021097
45	FOSL2	chr1:152019745-152021451	A549	lung:	n/a	chr1:152020041-152020051 chr1:152021190-152021202 chr1:152020042-152020050 chr1:152020740-152020749 chr1:152020040-152020052
46	MAX	chr1:152019878-152022772	Hela-S3	cervix:	n/a	chr1:152021116-152021125 chr1:152021087-152021097
47	EGR1	chr1:152019733-152021381	MCF-7	breast:	n/a	chr1:152020733-152020742 chr1:152020552-152020566
48	FOSL2	chr1:152019944-152021335	SK-N-SH	brain:	n/a	chr1:152020041-152020051 chr1:152021190-152021202 chr1:152020042-152020050 chr1:152020740-152020749 chr1:152020040-152020052
49	POLR2A	chr1:152019879-152021323	HL-60	blood:	n/a	n/a
50	STAT3	chr1:152019884-152021395	Hela-S3	cervix:	n/a	chr1:152021147-152021159 chr1:152021094-152021106

No.	Distal block	Cell Line	Cell type
1	chr1:152020360..152021339-chr20:32950573..32951350,2	Hela-S3	cervix:
2	chr1:152021017..152021518-chr20:43588441..43588993,2	Hela-S3	cervix:
3	chr1:152018576..152021368-chr17:59488179..59489785,2	MCF-7	breast:
4	chr1:152019899..152022172-chr1:152059534..152062643,3	MCF-7	breast:
5	chr1:152004043..152013121-chr1:152013584..152022966,19	K562	blood:
6	chr1:152020693..152021303-chr1:227126701..227127552,2	Hela-S3	cervix:
7	chr1:152020471..152023395-chr1:152032705..152034549,2	MCF-7	breast:
8	chr1:152020642..152022184-chr1:152137320..152138957,2	MCF-7	breast:
9	chr1:151877897..151883557-chr1:152019456..152022411,7	K562	blood:
10	chr1:152019311..152021605-chr1:152136763..152140691,3	MCF-7	breast:
11	chr1:152020825..152023230-chr1:152081998..152084966,2	MCF-7	breast:
12	chr1:151881661..151883557-chr1:152019981..152021490,2	K562	blood:
13	chr1:152020714..152022393-chr1:152056562..152059059,3	MCF-7	breast:
14	chr1:152009008..152009629-chr1:152020869..152021376,2	MCF-7	breast:
15	chr1:152020176..152022085-chr1:152129939..152131843,2	MCF-7	breast:
16	chr1:151483025..151485659-chr1:152019731..152022240,2	MCF-7	breast:
17	chr1:152007524..152008240-chr1:152020437..152021287,2	MCF-7	breast:
18	chr1:151961745..151973594-chr1:152015769..152025096,31	MCF-7	breast:

Variant related genes	Relation type
S100A11	TF binding region
ENSG00000229021	Chromatin interaction
ENSG00000078747	Chromatin interaction
ENSG00000163191	Chromatin interaction
ENSG00000182898	Chromatin interaction
ENSG00000143375	Chromatin interaction
ENSG00000267280	Chromatin interaction
ENSG00000187013	Chromatin interaction
ENSG00000215853	Chromatin interaction
ENSG00000237975	Chromatin interaction
ENSG00000159445	Chromatin interaction
ENSG00000197747	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1131473	0.88[EUR][1000 genomes]
rs11588437	0.87[EUR][1000 genomes]
rs1496041	0.87[EUR][1000 genomes]
rs2999563	0.80[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	nsv1007097	chr1:151832796-152227977	Strong transcription Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
2	nsv1012327	chr1:151835544-152200890	Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
3	nsv535159	chr1:151835544-152200890	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
4	nsv872441	chr1:151850072-152034430	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	191 gene(s)	inside rSNPs	diseases
5	nsv547853	chr1:152008671-152236760	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152018600-152021600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:152019400-152021400	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr1:152019400-152021800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr1:152019800-152021400	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr1:152019800-152021400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
6	chr1:152019800-152021400	Flanking Active TSS	K562	blood
7	chr1:152019800-152022600	Enhancers	Small Intestine	intestine
8	chr1:152020000-152021400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr1:152020000-152021400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
10	chr1:152020200-152021400	Active TSS	A549	lung
11	chr1:152020400-152021400	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr1:152020400-152021400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:152020400-152021400	Enhancers	HUVEC	blood vessel
14	chr1:152020400-152022200	Enhancers	Primary hematopoietic stem cells	blood
15	chr1:152020600-152021400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:152020600-152021600	Enhancers	Placenta	Placenta
17	chr1:152020800-152021400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:152020800-152021400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:152020800-152021400	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr1:152020800-152021400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:152020800-152021400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:152020800-152022000	Enhancers	Primary T cells from cord blood	blood
23	chr1:152021000-152021400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:152021000-152021400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:152021000-152021400	Enhancers	Primary B cells from peripheral blood	blood
26	chr1:152021000-152021400	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr1:152021000-152021400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr1:152021000-152021400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr1:152021000-152021400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:152021000-152021400	Enhancers	Fetal Stomach	stomach
31	chr1:152021000-152021400	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr1:152021000-152021400	Enhancers	GM12878-XiMat	blood
33	chr1:152021000-152021400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr1:152021000-152021400	Flanking Active TSS	NHEK	skin
35	chr1:152021000-152021600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr1:152021000-152021800	Enhancers	Primary T cells fromperipheralblood	blood
37	chr1:152021000-152022000	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr1:152021000-152023800	Weak transcription	Fetal Kidney	kidney
39	chr1:152021000-152024200	Enhancers	Fetal Intestine Small	intestine
40	chr1:152021000-152024200	Enhancers	Stomach Mucosa	stomach
41	chr1:152021000-152025200	Weak transcription	Brain Hippocampus Middle	brain
42	chr1:152021200-152021400	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr1:152021200-152021400	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr1:152021200-152021400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr1:152021200-152021400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr1:152021200-152021400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
47	chr1:152021200-152021400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr1:152021200-152021400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr1:152021200-152021400	Enhancers	Rectal Smooth Muscle	rectum
50	chr1:152021200-152021400	Enhancers	Stomach Smooth Muscle	stomach

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