Variant report

Variant	rs57618075
Chromosome Location	chr14:31345064-31345065
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	E2F6	chr14:31343338-31345221	H1-hESC	embryonic stem cell:	n/a	chr14:31343605-31343614 chr14:31343696-31343705 chr14:31343691-31343703
2	MAX	chr14:31342934-31345122	K562	blood:	n/a	chr14:31344440-31344449 chr14:31344861-31344876
3	SIN3A	chr14:31344097-31345203	H1-hESC	embryonic stem cell:	n/a	chr14:31344574-31344587
4	E2F6	chr14:31343076-31345312	H1-hESC	embryonic stem cell:	n/a	chr14:31343605-31343614 chr14:31343696-31343705 chr14:31343691-31343703
5	ZNF263	chr14:31342750-31345277	HEK293-T-REx	kidney:	n/a	chr14:31344626-31344635
6	TEAD4	chr14:31345015-31345397	H1-hESC	embryonic stem cell:	n/a	chr14:31345223-31345232
7	MAX	chr14:31343088-31345213	H1-hESC	embryonic stem cell:	n/a	chr14:31344440-31344449 chr14:31344861-31344876
8	MAX	chr14:31344200-31345135	H1-hESC	embryonic stem cell:	n/a	chr14:31344440-31344449 chr14:31344861-31344876
9	MAX	chr14:31343136-31345241	H1-hESC	embryonic stem cell:	n/a	chr14:31344440-31344449 chr14:31344861-31344876
10	E2F6	chr14:31343013-31345105	K562	blood:	n/a	chr14:31343605-31343614 chr14:31343696-31343705 chr14:31343691-31343703
11	TBP	chr14:31343214-31345222	K562	blood:	n/a	n/a
12	CTBP2	chr14:31343382-31345244	H1-hESC	embryonic stem cell:	n/a	n/a
13	MYC	chr14:31342918-31345073	K562	blood:	n/a	chr14:31344440-31344449 chr14:31344861-31344876
14	POLR2A	chr14:31342928-31347507	HepG2	liver:	n/a	n/a
15	POLR2A	chr14:31343188-31345314	SK-N-MC	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:31345041-31345091	T-47D	breast:	n/a
2	chr14:31345041-31345091	HRCEpiC	kidney:	n/a
3	chr14:31345041-31345091	Caco-2	colon:	n/a
4	chr14:31345041-31345091	ProgFib	skin:	n/a
5	chr14:31345041-31345091	AG10803	skin:	n/a
6	chr14:31345041-31345091	AG04450	lung:	fetal
7	chr14:31345041-31345091	AG04449	skin:	fetal
8	chr14:31345041-31345091	H1-hESC	embryonic stem cell:	embryo
9	chr14:31345041-31345091	SK-N-MC	brain:	n/a
10	chr14:31345041-31345091	GM06990	blood:	n/a
11	chr14:31345041-31345091	HL-60	blood:	n/a
12	chr14:31345041-31345091	ovcar-3	ovarian:	n/a
13	chr14:31345041-31345091	BJ	skin:	n/a
14	chr14:31345041-31345091	Hepatocyte	liver:	n/a
15	chr14:31345041-31345091	PFSK-1	brain:	n/a
16	chr14:31345041-31345091	ECC-1	luminal epithelium:	n/a
17	chr14:31345041-31345091	RPTEC	kidney:	n/a
18	chr14:31345041-31345091	NT2-D1	testis:	n/a
19	chr14:31345041-31345091	AoSMC	blood vessel:	n/a
20	chr14:31345041-31345091	NB4	blood:	n/a
21	chr14:31345041-31345091	HEK293	kidney:	embryo
22	chr14:31345041-31345091	NH-A	brain:	n/a
23	chr14:31345041-31345091	LNCaP	prostate:	n/a
24	chr14:31345041-31345091	HRPEpiC	eye:	n/a
25	chr14:31345041-31345091	GM12878	blood:	n/a
26	chr14:31345041-31345091	HEEpiC	esophagus:	n/a
27	chr14:31345041-31345091	HPAEpiC	pulmonary alveolar:	n/a
28	chr14:31345041-31345091	PrEC	prostate:	n/a
29	chr14:31345041-31345091	Hela-S3	cervix:	n/a
30	chr14:31345041-31345091	HAEpiC	amniotic membrane:	n/a
31	chr14:31345041-31345091	NHBE	bronchial:	n/a
32	chr14:31345041-31345091	HepG2	liver:	n/a
33	chr14:31345041-31345091	A549	lung:	n/a
34	chr14:31345041-31345091	SK-N-SH	brain:	n/a
35	chr14:31345041-31345091	HCPEpiC	choroid plexus:	n/a
36	chr14:31345041-31345091	HRE	kidney:	n/a
37	chr14:31345041-31345091	MCF10A-Er-Src	breast:	n/a
38	chr14:31345041-31345091	GM19239	blood:	n/a
39	chr14:31345041-31345091	SK-N-SH_RA	brain:	n/a
40	chr14:31345041-31345091	Jurkat	blood:	n/a
41	chr14:31345041-31345091	BE2_C	brain:	n/a
42	chr14:31345041-31345091	GM12892	blood:	n/a
43	chr14:31345041-31345091	NHDF-neo	bronchial:	n/a
44	chr14:31345041-31345091	SAEC	small airway:	n/a
45	chr14:31345041-31345091	AG09319	gingival:	n/a
46	chr14:31345041-31345091	SKMC	muscle:	n/a
47	chr14:31345041-31345091	HNPCEpiC	eye:	n/a
48	chr14:31345041-31345091	HUVEC	blood vessel:	n/a
49	chr14:31345041-31345091	GM12891	blood:	n/a
50	chr14:31345041-31345091	IMR90	lung:	fetal

No.	Distal block	Cell Line	Cell type
1	chr14:31090296..31092019-chr14:31343870..31346650,2	K562	blood:
2	chr14:31090029..31096005-chr14:31342159..31346650,8	K562	blood:
3	chr14:31343274..31345144-chr14:31492852..31495272,2	K562	blood:
4	chr14:31344003..31345728-chr14:31604211..31605992,2	K562	blood:

Variant related genes	Relation type
COCH	TF binding region
COCH	CpG island
ENSG00000092108	Chromatin interaction
ENSG00000100478	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs34638403	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv832762	chr14:31238634-31414038	Strong transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31343000-31345200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
2	chr14:31343200-31345200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr14:31343200-31345200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr14:31343200-31345200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr14:31343200-31345600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr14:31343400-31345400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
7	chr14:31343400-31345400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
8	chr14:31343400-31345400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
9	chr14:31343400-31345600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
10	chr14:31343800-31345600	Bivalent Enhancer	Fetal Brain Male	brain
11	chr14:31344000-31345200	Bivalent Enhancer	Fetal Heart	heart
12	chr14:31344200-31345200	Bivalent Enhancer	NH-A	brain
13	chr14:31344400-31345200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr14:31344400-31345200	Enhancers	Spleen	Spleen
15	chr14:31344400-31345400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
16	chr14:31344600-31345200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
17	chr14:31344600-31345200	Bivalent/Poised TSS	Brain Anterior Caudate	brain
18	chr14:31344600-31345200	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
19	chr14:31344600-31345200	Enhancers	Gastric	stomach
20	chr14:31344600-31345200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
21	chr14:31344600-31348200	Weak transcription	A549	lung
22	chr14:31344800-31345200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
23	chr14:31344800-31345200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
24	chr14:31344800-31345200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
25	chr14:31344800-31345200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr14:31344800-31345200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
27	chr14:31344800-31345200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
28	chr14:31344800-31345200	Bivalent Enhancer	Fetal Stomach	stomach
29	chr14:31344800-31345200	Bivalent Enhancer	Psoas Muscle	Psoas
30	chr14:31344800-31345200	Active TSS	Right Ventricle	heart
31	chr14:31344800-31345200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
32	chr14:31344800-31345200	Enhancers	HepG2	liver
33	chr14:31344800-31345200	Bivalent Enhancer	HUVEC	blood vessel
34	chr14:31344800-31345400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
35	chr14:31345000-31345200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr14:31345000-31345200	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr14:31345000-31345200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr14:31345000-31345200	Flanking Bivalent TSS/Enh	Brain Angular Gyrus	brain
39	chr14:31345000-31345200	Active TSS	Brain Germinal Matrix	brain
40	chr14:31345000-31345200	Bivalent Enhancer	Brain Hippocampus Middle	brain
41	chr14:31345000-31345200	Bivalent Enhancer	Duodenum Mucosa	Duodenum
42	chr14:31345000-31345200	Flanking Active TSS	Pancreas	Pancrea
43	chr14:31345000-31345200	Bivalent/Poised TSS	NHEK	skin
44	chr14:31345000-31345400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr14:31345000-31345400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
46	chr14:31345000-31345400	Bivalent Enhancer	Adipose Nuclei	Adipose
47	chr14:31345000-31345600	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr14:31345000-31345800	Flanking Active TSS	K562	blood
49	chr14:31345000-31346000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
50	chr14:31345000-31346600	Weak transcription	GM12878-XiMat	blood

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