Variant report

Variant	rs58920228
Chromosome Location	chr7:38217110-38217111
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr7:38217048-38219706	IMR90	lung:	n/a	chr7:38218254-38218263
2	NFIC	chr7:38217082-38218203	GM12878	blood:	n/a	n/a
3	REST	chr7:38217106-38218923	H1-neurons	neurons:	n/a	n/a
4	MTA3	chr7:38217085-38218860	GM12878	blood:	n/a	n/a
5	MXI1	chr7:38216789-38219828	IMR90	lung:	n/a	n/a
6	NFYA	chr7:38217088-38218259	Hela-S3	cervix:	n/a	n/a
7	MXI1	chr7:38216167-38220054	SK-N-SH	brain:	n/a	n/a
8	E2F6	chr7:38217091-38218241	A549	lung:	n/a	chr7:38217846-38217855 chr7:38217613-38217620 chr7:38217613-38217620 chr7:38217844-38217853 chr7:38217701-38217712 chr7:38217657-38217668 chr7:38217613-38217620
9	BHLHE40	chr7:38216931-38218629	GM12878	blood:	n/a	n/a
10	POLR2A	chr7:38216914-38218943	GM12891	blood:	n/a	n/a
11	TBL1XR1	chr7:38217061-38218217	GM12878	blood:	n/a	n/a
12	POLR2A	chr7:38216855-38218572	GM19099	blood:	n/a	n/a
13	POLR2A	chr7:38217083-38218398	PFSK-1	brain:	n/a	n/a
14	POLR2A	chr7:38217109-38218535	GM12878	blood:	n/a	n/a
15	POLR2A	chr7:38216770-38219088	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:38217109-38217159	SAEC	small airway:	n/a
2	chr7:38217109-38217159	AG09319	gingival:	n/a
3	chr7:38217109-38217159	IMR90	lung:	fetal
4	chr7:38217109-38217159	GM12878	blood:	n/a
5	chr7:38217109-38217159	HCF	heart:	n/a
6	chr7:38217109-38217159	AG09309	skin:	n/a
7	chr7:38217109-38217159	ProgFib	skin:	n/a
8	chr7:38217109-38217159	Hela-S3	cervix:	n/a
9	chr7:38217109-38217159	HepG2	liver:	n/a
10	chr7:38217109-38217159	T-47D	breast:	n/a
11	chr7:38217109-38217159	AG10803	skin:	n/a
12	chr7:38217109-38217159	HCM	heart:	n/a
13	chr7:38217109-38217159	HRCEpiC	kidney:	n/a
14	chr7:38217109-38217159	HEEpiC	esophagus:	n/a
15	chr7:38217109-38217159	BE2_C	brain:	n/a
16	chr7:38217109-38217159	ovcar-3	ovarian:	n/a
17	chr7:38217109-38217159	ECC-1	luminal epithelium:	n/a
18	chr7:38217109-38217159	HCT-116	colon:	n/a
19	chr7:38217109-38217159	AoSMC	blood vessel:	n/a
20	chr7:38217109-38217159	A549	lung:	n/a
21	chr7:38217109-38217159	GM12891	blood:	n/a
22	chr7:38217109-38217159	HNPCEpiC	eye:	n/a
23	chr7:38217109-38217159	SK-N-MC	brain:	n/a
24	chr7:38217109-38217159	SKMC	muscle:	n/a
25	chr7:38217109-38217159	MCF10A-Er-Src	breast:	n/a
26	chr7:38217109-38217159	HUVEC	blood vessel:	n/a
27	chr7:38217109-38217159	HL-60	blood:	n/a
28	chr7:38217109-38217159	NT2-D1	testis:	n/a
29	chr7:38217109-38217159	Caco-2	colon:	n/a
30	chr7:38217109-38217159	SK-N-SH_RA	brain:	n/a
31	chr7:38217109-38217159	Jurkat	blood:	n/a
32	chr7:38217109-38217159	AG04450	lung:	fetal
33	chr7:38217109-38217159	LNCaP	prostate:	n/a
34	chr7:38217109-38217159	PANC-1	pancreas:	n/a
35	chr7:38217109-38217159	H1-hESC	embryonic stem cell:	embryo
36	chr7:38217109-38217159	Hepatocyte	liver:	n/a
37	chr7:38217109-38217159	GM19239	blood:	n/a
38	chr7:38217109-38217159	K562	blood:	n/a
39	chr7:38217109-38217159	GM12892	blood:	n/a
40	chr7:38217109-38217159	NHDF-neo	bronchial:	n/a
41	chr7:38217109-38217159	HCPEpiC	choroid plexus:	n/a
42	chr7:38217109-38217159	HIPEpiC	eye:	n/a
43	chr7:38217109-38217159	CMK	blood:	n/a
44	chr7:38217109-38217159	NHBE	bronchial:	n/a
45	chr7:38217109-38217159	U87	brain:	n/a
46	chr7:38217109-38217159	HRE	kidney:	n/a
47	chr7:38217109-38217159	HEK293	kidney:	embryo
48	chr7:38217109-38217159	BJ	skin:	n/a
49	chr7:38217109-38217159	HRPEpiC	eye:	n/a
50	chr7:38217109-38217159	GM06990	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:38216168..38217800-chr7:38379811..38381919,2	K562	blood:

No data

Variant related genes	Relation type
STARD3NL	TF binding region
STARD3NL	CpG island
ENSG00000226212	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs4513882	1.00[EUR][1000 genomes]
rs56277900	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs59248139	0.81[AFR][1000 genomes]
rs60206415	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73350225	0.97[AFR][1000 genomes];0.85[AMR][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	nsv1016355	chr7:38168232-38372719	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv830963	chr7:38172988-38344779	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	esv2762664	chr7:38201814-38228480	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:38211800-38217200	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr7:38212400-38217200	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr7:38215800-38217200	Weak transcription	Liver	Liver
4	chr7:38216800-38217200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr7:38216800-38217200	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr7:38216800-38217200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr7:38216800-38217200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr7:38216800-38217200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
9	chr7:38216800-38217800	Flanking Active TSS	Dnd41	blood
10	chr7:38216800-38218600	Active TSS	Fetal Kidney	kidney
11	chr7:38216800-38218800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr7:38217000-38217200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:38217000-38217200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr7:38217000-38217200	Enhancers	Primary B cells from peripheral blood	blood
15	chr7:38217000-38217200	Enhancers	Primary T cells from cord blood	blood
16	chr7:38217000-38217200	Enhancers	Primary hematopoietic stem cells	blood
17	chr7:38217000-38217200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr7:38217000-38217200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr7:38217000-38217200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr7:38217000-38217200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr7:38217000-38217200	Enhancers	Adipose Nuclei	Adipose
22	chr7:38217000-38217200	Flanking Active TSS	A549	lung
23	chr7:38217000-38217200	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr7:38217000-38217200	Enhancers	NH-A	brain
25	chr7:38217000-38217600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr7:38217000-38217600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr7:38217000-38217600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr7:38217000-38218600	Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr7:38217000-38218600	Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr7:38217000-38218600	Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr7:38217000-38218600	Active TSS	Fetal Brain Male	brain
32	chr7:38217000-38218800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr7:38217000-38218800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr7:38217000-38218800	Active TSS	Brain Angular Gyrus	brain
35	chr7:38217000-38218800	Active TSS	Fetal Brain Female	brain
36	chr7:38217000-38219200	Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr7:38217000-38219400	Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr7:38217000-38219400	Active TSS	GM12878-XiMat	blood
39	chr7:38217000-38219600	Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr7:38217000-38219800	Active TSS	Duodenum Smooth Muscle	Duodenum

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