Variant report

Variant	rs544239658
Chromosome Location	chr2:85981297-85981298
allele	C/G
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	chr2:85980642-85981470	HUVEC	blood vessel:	n/a	n/a
2	SIN3A	chr2:85980651-85981502	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr2:85980856-85981455	IMR90	lung:	n/a	n/a
4	MAX	chr2:85981050-85981540	H1-hESC	embryonic stem cell:	n/a	n/a
5	TCF7L2	chr2:85980560-85982278	HCT-116	colon:	n/a	chr2:85981977-85981991
6	E2F6	chr2:85980750-85982405	A549	lung:	n/a	chr2:85980931-85980938
7	CREB1	chr2:85980971-85981568	A549	lung:	n/a	n/a
8	POLR2A	chr2:85980893-85981377	A549	lung:	n/a	n/a
9	MAX	chr2:85980493-85982879	A549	lung:	n/a	chr2:85980971-85980981 chr2:85980726-85980737 chr2:85980725-85980733 chr2:85980726-85980737 chr2:85980727-85980736 chr2:85982291-85982301 chr2:85982144-85982154 chr2:85982443-85982453
10	POLR2A	chr2:85980706-85981340	HUVEC	blood vessel:	n/a	n/a
11	CTBP2	chr2:85980328-85982657	H1-hESC	embryonic stem cell:	n/a	n/a
12	HDAC2	chr2:85980844-85982249	MCF-7	breast:	n/a	n/a
13	E2F6	chr2:85980287-85981483	H1-hESC	embryonic stem cell:	n/a	chr2:85980464-85980471 chr2:85980464-85980471 chr2:85980464-85980471 chr2:85980931-85980938
14	POLR2A	chr2:85980890-85981419	A549	lung:	n/a	n/a
15	POLR2A	chr2:85980769-85982739	HUVEC	blood vessel:	n/a	n/a
16	TCF12	chr2:85980660-85982516	A549	lung:	n/a	n/a
17	JUND	chr2:85980720-85981463	A549	lung:	n/a	n/a
18	POLR2A	chr2:85980497-85982286	ProgFib	skin:	n/a	n/a
19	EP300	chr2:85980827-85981336	A549	lung:	n/a	chr2:85981048-85981058 chr2:85980886-85980895 chr2:85981164-85981173
20	POLR2A	chr2:85980849-85981487	A549	lung:	n/a	n/a
21	E2F6	chr2:85981146-85982237	A549	lung:	n/a	n/a
22	FOXA2	chr2:85980699-85981380	A549	lung:	n/a	chr2:85981049-85981061
23	POLR2A	chr2:85980740-85982247	HUVEC	blood vessel:	n/a	n/a
24	MAX	chr2:85981216-85981428	NB4	blood:	n/a	n/a
25	CHD1	chr2:85980409-85983348	IMR90	lung:	n/a	chr2:85980799-85980809 chr2:85980931-85980938
26	TCF12	chr2:85980654-85981462	SK-N-SH	brain:	n/a	n/a
27	MAX	chr2:85980847-85981522	MCF-7	breast:	n/a	chr2:85980971-85980981
28	POLR2A	chr2:85981191-85981385	A549	lung:	n/a	n/a
29	ZNF143	chr2:85981043-85981397	H1-hESC	embryonic stem cell:	n/a	n/a
30	BACH1	chr2:85981198-85981350	H1-hESC	embryonic stem cell:	n/a	n/a
31	HDAC2	chr2:85980787-85981300	HepG2	liver:	n/a	n/a
32	HA-E2F1	chr2:85980827-85982187	MCF-7	breast:	n/a	chr2:85980931-85980938
33	FOXA2	chr2:85980734-85981348	A549	lung:	n/a	chr2:85981049-85981061
34	MAX	chr2:85980561-85982499	A549	lung:	n/a	chr2:85980971-85980981 chr2:85980726-85980737 chr2:85980725-85980733 chr2:85980726-85980737 chr2:85980727-85980736 chr2:85982291-85982301 chr2:85982144-85982154 chr2:85982443-85982453
35	SP4	chr2:85981093-85981432	H1-hESC	embryonic stem cell:	n/a	n/a
36	ZNF263	chr2:85981035-85981431	HEK293-T-REx	kidney:	n/a	n/a
37	MAX	chr2:85981121-85981587	ECC-1	luminal epithelium:	n/a	n/a
38	POLR2A	chr2:85980780-85981389	HUVEC	blood vessel:	n/a	n/a
39	TCF7L2	chr2:85980809-85982366	PANC-1	pancreas:	n/a	chr2:85981977-85981991

No.	Distal block	Cell Line	Cell type
1	chr2:85981293..85984643-chr2:85987254..85991080,5	MCF-7	breast:
2	chr2:85976672..85979342-chr2:85979775..85983871,4	K562	blood:
3	chr2:85976745..85979342-chr2:85979775..85983018,3	K562	blood:

Variant related genes	Relation type
ATOH8	TF binding region
ENSG00000168874	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874468	chr2:85926598-86001255	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1012593	chr2:85966323-85997189	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv874469	chr2:85973618-86025251	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
4	nsv874470	chr2:85973618-86028257	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv874471	chr2:85976645-86021919	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
6	esv3326551	chr2:85980466-85983314	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv829487	chr2:85980599-85983121	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:85980000-85982800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
2	chr2:85980000-85983000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr2:85980000-85983400	Active TSS	Right Atrium	heart
4	chr2:85980200-85981400	Bivalent/Poised TSS	Colonic Mucosa	Colon
5	chr2:85980200-85981600	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
6	chr2:85980200-85982400	Active TSS	Fetal Kidney	kidney
7	chr2:85980200-85983200	Active TSS	Left Ventricle	heart
8	chr2:85980200-85983400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:85980200-85983400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:85980200-85983600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
11	chr2:85980200-85984400	Active TSS	Aorta	Aorta
12	chr2:85980400-85981400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr2:85980400-85981400	Bivalent/Poised TSS	Placenta Amnion	Placenta Amnion
14	chr2:85980400-85981600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr2:85980400-85981800	Weak transcription	Fetal Heart	heart
16	chr2:85980400-85982000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
17	chr2:85980400-85982200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
18	chr2:85980400-85982200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
19	chr2:85980400-85982200	Bivalent Enhancer	Fetal Brain Male	brain
20	chr2:85980400-85982400	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:85980400-85982400	Active TSS	Brain Angular Gyrus	brain
22	chr2:85980400-85982600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:85980400-85982600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
24	chr2:85980400-85982600	Active TSS	Brain Cingulate Gyrus	brain
25	chr2:85980400-85982600	Active TSS	Colon Smooth Muscle	Colon
26	chr2:85980400-85982800	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr2:85980400-85982800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr2:85980400-85983000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
29	chr2:85980400-85983000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
30	chr2:85980400-85983200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
31	chr2:85980400-85983400	Active TSS	Brain Substantia Nigra	brain
32	chr2:85980400-85983600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
33	chr2:85980400-85983800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr2:85980600-85981400	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:85980600-85981400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
36	chr2:85980600-85981400	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
37	chr2:85980600-85981400	Bivalent/Poised TSS	Fetal Brain Female	brain
38	chr2:85980600-85981600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
39	chr2:85980600-85981800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr2:85980600-85981800	Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr2:85980600-85981800	Bivalent/Poised TSS	HepG2	liver
42	chr2:85980600-85982000	Active TSS	Brain Inferior Temporal Lobe	brain
43	chr2:85980600-85982000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
44	chr2:85980600-85982200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr2:85980600-85982400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr2:85980600-85982400	Active TSS	Ovary	ovary
47	chr2:85980600-85982400	Active TSS	Rectal Smooth Muscle	rectum
48	chr2:85980600-85982400	Active TSS	Right Ventricle	heart
49	chr2:85980600-85982400	Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr2:85980600-85982600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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