Variant report

Variant	rs575192542
Chromosome Location	chr14:67982060-67982061
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	MAX	chr14:67981489-67982737	A549	lung:	n/a	chr14:67982509-67982522 chr14:67982509-67982524 chr14:67982510-67982519 chr14:67982507-67982522 chr14:67982511-67982520 chr14:67982510-67982521 chr14:67982333-67982343 chr14:67982509-67982522 chr14:67982509-67982522 chr14:67982509-67982522 chr14:67982510-67982521 chr14:67982005-67982014 chr14:67982510-67982520 chr14:67982511-67982521 chr14:67982510-67982520 chr14:67981712-67981722
2	MAX	chr14:67981481-67982715	H1-hESC	embryonic stem cell:	n/a	chr14:67982509-67982522 chr14:67982509-67982524 chr14:67982510-67982519 chr14:67982507-67982522 chr14:67982511-67982520 chr14:67982510-67982521 chr14:67982333-67982343 chr14:67982509-67982522 chr14:67982509-67982522 chr14:67982509-67982522 chr14:67982510-67982521 chr14:67982005-67982014 chr14:67982510-67982520 chr14:67982511-67982521 chr14:67982510-67982520 chr14:67981712-67981722
3	MAX	chr14:67982055-67982753	MCF-7	breast:	n/a	chr14:67982509-67982522 chr14:67982509-67982524 chr14:67982510-67982519 chr14:67982507-67982522 chr14:67982511-67982520 chr14:67982510-67982521 chr14:67982333-67982343 chr14:67982509-67982522 chr14:67982509-67982522 chr14:67982509-67982522 chr14:67982510-67982521 chr14:67982510-67982520 chr14:67982511-67982521 chr14:67982510-67982520
4	GATA3	chr14:67981025-67982081	MCF-7	breast:	n/a	chr14:67981704-67981713
5	MAX	chr14:67981073-67982765	MCF-7	breast:	n/a	chr14:67982509-67982522 chr14:67982509-67982524 chr14:67982510-67982519 chr14:67982507-67982522 chr14:67982511-67982520 chr14:67982510-67982521 chr14:67982333-67982343 chr14:67981389-67981399 chr14:67982509-67982522 chr14:67982509-67982522 chr14:67982509-67982522 chr14:67982510-67982521 chr14:67982005-67982014 chr14:67982510-67982520 chr14:67982511-67982521 chr14:67982510-67982520 chr14:67981712-67981722
6	RUNX3	chr14:67981423-67982070	GM12878	blood:	n/a	n/a
7	CHD2	chr14:67981380-67982108	Hela-S3	cervix:	n/a	chr14:67981903-67981913 chr14:67981946-67981956
8	PAX5	chr14:67982017-67982340	GM12892	blood:	n/a	n/a
9	POLR2A	chr14:67981339-67982503	GM19099	blood:	n/a	n/a
10	EP300	chr14:67981746-67982506	SK-N-SH	brain:	n/a	chr14:67981980-67981996 chr14:67982245-67982261
11	RCOR1	chr14:67981424-67982937	IMR90	lung:	n/a	n/a
12	HA-E2F1	chr14:67981741-67982134	Hela-S3	cervix:	n/a	chr14:67981945-67981957 chr14:67982092-67982102 chr14:67981948-67981957
13	ELF1	chr14:67980475-67982067	MCF-7	breast:	n/a	chr14:67981642-67981655 chr14:67981807-67981819 chr14:67981713-67981725 chr14:67981836-67981848
14	POLR2A	chr14:67981348-67982479	GM18951	blood:	n/a	n/a
15	MAX	chr14:67981986-67982632	H1-hESC	embryonic stem cell:	n/a	chr14:67982509-67982522 chr14:67982509-67982524 chr14:67982510-67982519 chr14:67982507-67982522 chr14:67982511-67982520 chr14:67982510-67982521 chr14:67982333-67982343 chr14:67982509-67982522 chr14:67982509-67982522 chr14:67982509-67982522 chr14:67982510-67982521 chr14:67982005-67982014 chr14:67982510-67982520 chr14:67982511-67982521 chr14:67982510-67982520
16	POLR2A	chr14:67981829-67982127	H1-neurons	neurons:	n/a	n/a
17	HMGN3	chr14:67981557-67982397	K562	blood:	n/a	n/a
18	MAZ	chr14:67981578-67982092	K562	blood:	n/a	chr14:67982005-67982014 chr14:67981712-67981722
19	EP300	chr14:67981832-67982220	H1-hESC	embryonic stem cell:	n/a	chr14:67981980-67981996
20	TCF3	chr14:67981832-67982412	GM12878	blood:	n/a	chr14:67982350-67982364
21	SIN3A	chr14:67981111-67982648	H1-hESC	embryonic stem cell:	n/a	chr14:67981173-67981186 chr14:67982510-67982519
22	CTCF	chr14:67982040-67982190	GM12873	blood:	n/a	n/a
23	ZNF143	chr14:67981904-67982794	H1-hESC	embryonic stem cell:	n/a	chr14:67981908-67981918
24	MXI1	chr14:67981364-67982768	SK-N-SH	brain:	n/a	chr14:67982510-67982519 chr14:67982512-67982521
25	ZBTB7A	chr14:67981937-67982346	K562	blood:	n/a	n/a
26	MXI1	chr14:67982026-67982574	H1-hESC	embryonic stem cell:	n/a	chr14:67982510-67982519 chr14:67982512-67982521
27	MXI1	chr14:67981292-67982342	IMR90	lung:	n/a	n/a
28	MAX	chr14:67981806-67982599	K562	blood:	n/a	chr14:67982509-67982522 chr14:67982509-67982524 chr14:67982510-67982519 chr14:67982507-67982522 chr14:67982511-67982520 chr14:67982510-67982521 chr14:67982333-67982343 chr14:67982509-67982522 chr14:67982509-67982522 chr14:67982509-67982522 chr14:67982510-67982521 chr14:67982005-67982014 chr14:67982510-67982520 chr14:67982511-67982521 chr14:67982510-67982520
29	MYC	chr14:67981960-67982565	MCF-7	breast:	n/a	chr14:67982509-67982522 chr14:67982509-67982524 chr14:67982510-67982519 chr14:67982507-67982522 chr14:67982511-67982520 chr14:67982510-67982521 chr14:67982333-67982343 chr14:67982509-67982522 chr14:67982509-67982522 chr14:67982509-67982522 chr14:67982510-67982521 chr14:67982005-67982014 chr14:67982510-67982520 chr14:67982511-67982521 chr14:67982510-67982520
30	HDAC2	chr14:67980957-67982757	MCF-7	breast:	n/a	n/a
31	ZBTB7A	chr14:67981531-67982365	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:67980933..67983898-chr14:67998089..68001326,3	MCF-7	breast:
2	chr14:67954053..67956925-chr14:67980005..67982672,2	MCF-7	breast:
3	chr14:67981445..67983281-chr15:99192294..99193975,2	MCF-7	breast:
4	chr14:67981257..67983579-chr14:67998739..68001743,3	MCF-7	breast:

Variant related genes	Relation type
TMEM229B	TF binding region
ENSG00000198133	Chromatin interaction
ENSG00000140443	Chromatin interaction
ENSG00000054690	Chromatin interaction

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

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	nsv456331	chr14:67732861-68103780	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv564961	chr14:67732861-68103780	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS 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 miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv902066	chr14:67873128-68103780	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers 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	24 gene(s)	inside rSNPs	diseases
5	nsv1320	chr14:67938724-67984157	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	esv3357417	chr14:67980624-67983572	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 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	chr14:67979800-67982600	Enhancers	Fetal Brain Male	brain
2	chr14:67980600-67982600	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr14:67980800-67982400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr14:67980800-67982600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr14:67980800-67982600	Active TSS	Rectal Smooth Muscle	rectum
6	chr14:67981000-67982400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
7	chr14:67981000-67982400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr14:67981000-67982400	Active TSS	Fetal Intestine Large	intestine
9	chr14:67981000-67982600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
10	chr14:67981000-67982600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
11	chr14:67981000-67982600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
12	chr14:67981000-67982600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
13	chr14:67981000-67982600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
14	chr14:67981000-67982600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr14:67981200-67982200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr14:67981200-67982200	Active TSS	Muscle Satellite Cultured Cells	--
17	chr14:67981200-67982200	Active TSS	Esophagus	oesophagus
18	chr14:67981200-67982200	Active TSS	Psoas Muscle	Psoas
19	chr14:67981200-67982400	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:67981200-67982400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr14:67981200-67982400	Active TSS	Primary T helper naive cells from peripheral blood	blood
22	chr14:67981200-67982400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr14:67981200-67982400	Active TSS	Colon Smooth Muscle	Colon
24	chr14:67981200-67982400	Active TSS	Ovary	ovary
25	chr14:67981200-67982400	Active TSS	Right Atrium	heart
26	chr14:67981200-67982400	Active TSS	HSMM	muscle
27	chr14:67981200-67982400	Active TSS	NHDF-Ad	bronchial
28	chr14:67981200-67982400	Active TSS	Osteobl	bone
29	chr14:67981200-67982600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
30	chr14:67981200-67982600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr14:67981400-67982200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
32	chr14:67981400-67982200	Active TSS	Breast Myoepithelial Primary Cells	Breast
33	chr14:67981400-67982200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
34	chr14:67981400-67982200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr14:67981400-67982200	Active TSS	Brain Hippocampus Middle	brain
36	chr14:67981400-67982200	Active TSS	Pancreas	Pancrea
37	chr14:67981400-67982200	Active TSS	Right Ventricle	heart
38	chr14:67981400-67982200	Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr14:67981400-67982200	Active TSS	Stomach Mucosa	stomach
40	chr14:67981400-67982200	Active TSS	Stomach Smooth Muscle	stomach
41	chr14:67981400-67982200	Active TSS	Spleen	Spleen
42	chr14:67981400-67982200	Active TSS	HSMMtube	muscle
43	chr14:67981400-67982400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr14:67981400-67982400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
45	chr14:67981400-67982400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
46	chr14:67981400-67982400	Active TSS	Primary T killer memory cells from peripheral blood	blood
47	chr14:67981400-67982400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr14:67981400-67982400	Active TSS	Aorta	Aorta
49	chr14:67981400-67982400	Active TSS	Brain Anterior Caudate	brain
50	chr14:67981400-67982400	Active TSS	Brain Cingulate Gyrus	brain

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