Variant report

Variant	rs7155723
Chromosome Location	chr14:24598958-24598959
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:24598801-24599028	HepG2	liver:	n/a	n/a
2	FOXA1	chr14:24598468-24599024	HepG2	liver:	n/a	n/a
3	FOXA1	chr14:24598592-24599047	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:24598954-24599004	SK-N-SH_RA	brain:	n/a
2	chr14:24598954-24599004	AG09319	gingival:	n/a
3	chr14:24598954-24599004	HRE	kidney:	n/a
4	chr14:24598954-24599004	HRCEpiC	kidney:	n/a
5	chr14:24598954-24599004	AG10803	skin:	n/a
6	chr14:24598954-24599004	GM19239	blood:	n/a
7	chr14:24598954-24599004	NH-A	brain:	n/a
8	chr14:24598954-24599004	U87	brain:	n/a
9	chr14:24598954-24599004	AG04450	lung:	fetal
10	chr14:24598954-24599004	PFSK-1	brain:	n/a
11	chr14:24598954-24599004	Jurkat	blood:	n/a
12	chr14:24598954-24599004	RPTEC	kidney:	n/a
13	chr14:24598954-24599004	HRPEpiC	eye:	n/a
14	chr14:24598954-24599004	MCF10A-Er-Src	breast:	n/a
15	chr14:24598954-24599004	GM06990	blood:	n/a
16	chr14:24598954-24599004	BJ	skin:	n/a
17	chr14:24598954-24599004	HEK293	kidney:	embryo
18	chr14:24598954-24599004	BE2_C	brain:	n/a
19	chr14:24598954-24599004	GM12892	blood:	n/a
20	chr14:24598954-24599004	SK-N-SH	brain:	n/a
21	chr14:24598954-24599004	AG04449	skin:	fetal
22	chr14:24598954-24599004	SAEC	small airway:	n/a
23	chr14:24598954-24599004	AG09309	skin:	n/a
24	chr14:24598954-24599004	GM12891	blood:	n/a
25	chr14:24598954-24599004	HCF	heart:	n/a
26	chr14:24598954-24599004	NHDF-neo	bronchial:	n/a
27	chr14:24598954-24599004	ProgFib	skin:	n/a
28	chr14:24598954-24599004	HAEpiC	amniotic membrane:	n/a
29	chr14:24598954-24599004	HEEpiC	esophagus:	n/a
30	chr14:24598954-24599004	NT2-D1	testis:	n/a
31	chr14:24598954-24599004	GM12878	blood:	n/a
32	chr14:24598954-24599004	T-47D	breast:	n/a
33	chr14:24598954-24599004	Hepatocyte	liver:	n/a
34	chr14:24598954-24599004	Caco-2	colon:	n/a
35	chr14:24598954-24599004	MCF-7	breast:	n/a
36	chr14:24598954-24599004	HCPEpiC	choroid plexus:	n/a
37	chr14:24598954-24599004	SKMC	muscle:	n/a
38	chr14:24598954-24599004	HepG2	liver:	n/a
39	chr14:24598954-24599004	NB4	blood:	n/a
40	chr14:24598954-24599004	PANC-1	pancreas:	n/a
41	chr14:24598954-24599004	HCT-116	colon:	n/a
42	chr14:24598954-24599004	CMK	blood:	n/a
43	chr14:24598954-24599004	HPAEpiC	pulmonary alveolar:	n/a
44	chr14:24598954-24599004	HMEC	breast:	n/a
45	chr14:24598954-24599004	AoSMC	blood vessel:	n/a
46	chr14:24598954-24599004	HCM	heart:	n/a
47	chr14:24598954-24599004	IMR90	lung:	fetal
48	chr14:24598954-24599004	HL-60	blood:	n/a
49	chr14:24598954-24599004	HUVEC	blood vessel:	n/a
50	chr14:24598954-24599004	ovcar-3	ovarian:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:24596931..24599113-chr14:24603333..24605432,2	MCF-7	breast:
2	chr14:24563492..24565225-chr14:24598275..24600139,2	K562	blood:
3	chr14:24587138..24589234-chr14:24598688..24601395,2	K562	blood:
4	chr14:24585511..24587788-chr14:24596811..24599017,2	K562	blood:

No data

Variant related genes	Relation type
FITM1	TF binding region
FITM1	CpG island
ENSG00000129535	Chromatin interaction
ENSG00000100897	Chromatin interaction
ENSG00000092010	Chromatin interaction
ENSG00000100889	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10138006	1.00[CHD][hapmap]
rs1043612	1.00[LWK][hapmap]
rs11620720	1.00[CHD][hapmap]
rs17101262	1.00[CHD][hapmap];1.00[LWK][hapmap]
rs4981500	1.00[CHD][hapmap]
rs7141186	1.00[LWK][hapmap]
rs7147300	1.00[LWK][hapmap]

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	esv3405661	chr14:24189883-24670942	Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	esv1827678	chr14:24520544-24663325	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
3	nsv456168	chr14:24525634-24618859	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
4	nsv564057	chr14:24525634-24618859	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
5	nsv869985	chr14:24578013-24652669	Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
6	nsv901498	chr14:24591892-24662177	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7155723	C14orf122	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24586200-24599800	Weak transcription	Right Atrium	heart
2	chr14:24589000-24604400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr14:24589200-24604600	Weak transcription	A549	lung
4	chr14:24589400-24604800	Weak transcription	HUVEC	blood vessel
5	chr14:24590600-24601200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr14:24590600-24604600	Weak transcription	NH-A	brain
7	chr14:24590800-24600800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr14:24590800-24601200	Weak transcription	HMEC	breast
9	chr14:24591200-24599800	Weak transcription	Psoas Muscle	Psoas
10	chr14:24591200-24604600	Weak transcription	Fetal Kidney	kidney
11	chr14:24591200-24604600	Weak transcription	Stomach Mucosa	stomach
12	chr14:24591200-24604800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:24592400-24601200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr14:24592400-24604400	Weak transcription	Hela-S3	cervix
15	chr14:24592400-24604600	Weak transcription	NHLF	lung
16	chr14:24592600-24604400	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr14:24592600-24604400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr14:24592800-24599800	Weak transcription	HSMMtube	muscle
19	chr14:24592800-24600400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr14:24592800-24601000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr14:24592800-24604600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr14:24592800-24604600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr14:24593200-24599800	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr14:24593200-24600400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr14:24593200-24604400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr14:24593200-24604600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr14:24593200-24604600	Weak transcription	Rectal Smooth Muscle	rectum
28	chr14:24593400-24600000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr14:24593400-24600000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr14:24593400-24601000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr14:24593400-24601000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr14:24593400-24601200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr14:24593400-24601400	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr14:24593400-24601800	Weak transcription	Esophagus	oesophagus
35	chr14:24593400-24604600	Weak transcription	Brain Cingulate Gyrus	brain
36	chr14:24593400-24604600	Weak transcription	Brain Germinal Matrix	brain
37	chr14:24593400-24604600	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr14:24593400-24604800	Weak transcription	Fetal Lung	lung
39	chr14:24593600-24599000	Weak transcription	Fetal Heart	heart
40	chr14:24593600-24599800	Weak transcription	Pancreas	Pancrea
41	chr14:24593600-24600000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr14:24593600-24601200	Weak transcription	NHEK	skin
43	chr14:24593600-24601400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr14:24593600-24601400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr14:24593600-24601400	Weak transcription	Stomach Smooth Muscle	stomach
46	chr14:24593600-24601600	Weak transcription	Fetal Intestine Large	intestine
47	chr14:24593600-24604400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr14:24593600-24604400	Weak transcription	Dnd41	blood
49	chr14:24593600-24604600	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr14:24593600-24604600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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