Variant report

Variant	rs10951837
Chromosome Location	chr7:5229247-5229248
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NRF1	chr7:5229013-5230600	SK-N-SH	brain:	n/a	chr7:5229855-5229866 chr7:5229852-5229866 chr7:5229844-5229853 chr7:5229855-5229869 chr7:5229855-5229864 chr7:5229810-5229824
2	POLR2A	chr7:5229020-5230440	HepG2	liver:	n/a	n/a
3	POLR2A	chr7:5229116-5230663	K562	blood:	n/a	n/a
4	POLR2A	chr7:5229032-5230183	SK-N-MC	brain:	n/a	n/a
5	POLR2A	chr7:5229008-5230235	Raji	blood:	n/a	n/a
6	HCFC1	chr7:5228553-5230659	Hela-S3	cervix:	n/a	n/a
7	MXI1	chr7:5228952-5230724	SK-N-SH	brain:	n/a	n/a
8	CBX3	chr7:5229112-5229930	K562	blood:	n/a	n/a
9	POLR2A	chr7:5229093-5230197	MCF-7	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:5229232-5229282	AG10803	skin:	n/a
2	chr7:5229232-5229282	Caco-2	colon:	n/a
3	chr7:5229232-5229282	Hela-S3	cervix:	n/a
4	chr7:5229232-5229282	HIPEpiC	eye:	n/a
5	chr7:5229232-5229282	SK-N-SH_RA	brain:	n/a
6	chr7:5229232-5229282	T-47D	breast:	n/a
7	chr7:5229232-5229282	HCPEpiC	choroid plexus:	n/a
8	chr7:5229232-5229282	U87	brain:	n/a
9	chr7:5229232-5229282	HEEpiC	esophagus:	n/a
10	chr7:5229232-5229282	ECC-1	luminal epithelium:	n/a
11	chr7:5229232-5229282	HEK293	kidney:	embryo
12	chr7:5229232-5229282	ProgFib	skin:	n/a
13	chr7:5229232-5229282	K562	blood:	n/a
14	chr7:5229232-5229282	BE2_C	brain:	n/a
15	chr7:5229232-5229282	HRCEpiC	kidney:	n/a
16	chr7:5229232-5229282	HCT-116	colon:	n/a
17	chr7:5229232-5229282	BJ	skin:	n/a
18	chr7:5229232-5229282	GM12892	blood:	n/a
19	chr7:5229232-5229282	AG04450	lung:	fetal
20	chr7:5229232-5229282	GM12878	blood:	n/a
21	chr7:5229232-5229282	GM19239	blood:	n/a
22	chr7:5229232-5229282	PFSK-1	brain:	n/a
23	chr7:5229232-5229282	HUVEC	blood vessel:	n/a
24	chr7:5229232-5229282	SK-N-MC	brain:	n/a
25	chr7:5229232-5229282	IMR90	lung:	fetal
26	chr7:5229232-5229282	AG04449	skin:	fetal
27	chr7:5229232-5229282	AoSMC	blood vessel:	n/a
28	chr7:5229232-5229282	HL-60	blood:	n/a
29	chr7:5229232-5229282	A549	lung:	n/a
30	chr7:5229232-5229282	GM12891	blood:	n/a
31	chr7:5229232-5229282	NHDF-neo	bronchial:	n/a
32	chr7:5229232-5229282	ovcar-3	ovarian:	n/a
33	chr7:5229232-5229282	HCM	heart:	n/a
34	chr7:5229232-5229282	Jurkat	blood:	n/a
35	chr7:5229232-5229282	MCF-7	breast:	n/a
36	chr7:5229232-5229282	AG09319	gingival:	n/a
37	chr7:5229232-5229282	AG09309	skin:	n/a
38	chr7:5229232-5229282	LNCaP	prostate:	n/a
39	chr7:5229232-5229282	NB4	blood:	n/a
40	chr7:5229232-5229282	SAEC	small airway:	n/a
41	chr7:5229232-5229282	PANC-1	pancreas:	n/a
42	chr7:5229232-5229282	NH-A	brain:	n/a
43	chr7:5229232-5229282	HNPCEpiC	eye:	n/a
44	chr7:5229232-5229282	HRPEpiC	eye:	n/a
45	chr7:5229232-5229282	SKMC	muscle:	n/a
46	chr7:5229232-5229282	GM06990	blood:	n/a
47	chr7:5229232-5229282	HepG2	liver:	n/a
48	chr7:5229232-5229282	RPTEC	kidney:	n/a
49	chr7:5229232-5229282	HAEpiC	amniotic membrane:	n/a
50	chr7:5229232-5229282	HPAEpiC	pulmonary alveolar:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:5218548..5222992-chr7:5228147..5230588,3	MCF-7	breast:

No data

Variant related genes	Relation type
WIPI2	TF binding region
WIPI2	CpG island
ENSG00000202039	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11772474	0.81[ASN][1000 genomes]
rs12539634	0.84[ASN][1000 genomes]
rs4352737	0.93[ASN][1000 genomes]
rs4724449	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs9655049	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530968	chr7:4572250-5418004	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv1031697	chr7:4677463-5241790	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv538704	chr7:4677463-5241790	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised 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	59 gene(s)	inside rSNPs	diseases
4	nsv869165	chr7:4889618-5799719	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	352 gene(s)	inside rSNPs	diseases
5	nsv530979	chr7:5101631-5864814	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
6	nsv1031007	chr7:5101766-5262695	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv916396	chr7:5128917-5370805	Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
8	nsv530981	chr7:5157150-5920006	Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	348 gene(s)	inside rSNPs	diseases
9	nsv1015639	chr7:5209510-5255399	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
10	nsv887390	chr7:5224407-5411296	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
11	nsv887391	chr7:5224407-5572132	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	292 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5228800-5229400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:5228800-5229400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:5228800-5231000	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr7:5229000-5229400	Enhancers	Primary T cells fromperipheralblood	blood
5	chr7:5229000-5229600	Flanking Active TSS	Dnd41	blood
6	chr7:5229200-5229400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr7:5229200-5229400	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr7:5229200-5229400	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr7:5229200-5229400	Enhancers	Primary B cells from peripheral blood	blood
10	chr7:5229200-5229400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr7:5229200-5229400	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr7:5229200-5229400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr7:5229200-5229400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr7:5229200-5229400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:5229200-5229400	Enhancers	Liver	Liver
16	chr7:5229200-5229400	Flanking Active TSS	Duodenum Mucosa	Duodenum
17	chr7:5229200-5229400	Enhancers	Fetal Muscle Leg	muscle
18	chr7:5229200-5229400	Enhancers	Placenta	Placenta
19	chr7:5229200-5229400	Enhancers	Fetal Stomach	stomach
20	chr7:5229200-5229400	Enhancers	Fetal Thymus	thymus
21	chr7:5229200-5229400	Flanking Active TSS	Rectal Smooth Muscle	rectum
22	chr7:5229200-5229400	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr7:5229200-5229400	Enhancers	Thymus	Thymus
24	chr7:5229200-5229400	Flanking Active TSS	HepG2	liver
25	chr7:5229200-5229400	Enhancers	K562	blood
26	chr7:5229200-5229400	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr7:5229200-5229400	Flanking Active TSS	NH-A	brain
28	chr7:5229200-5229600	Enhancers	Primary hematopoietic stem cells	blood
29	chr7:5229200-5229600	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr7:5229200-5229600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr7:5229200-5229600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr7:5229200-5229600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
33	chr7:5229200-5229600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr7:5229200-5229600	Enhancers	Spleen	Spleen
35	chr7:5229200-5229800	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr7:5229200-5229800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
37	chr7:5229200-5230200	Active TSS	Stomach Smooth Muscle	stomach
38	chr7:5229200-5230400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr7:5229200-5230400	Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr7:5229200-5230400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
41	chr7:5229200-5230400	Active TSS	Primary T killer memory cells from peripheral blood	blood
42	chr7:5229200-5230400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr7:5229200-5230400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr7:5229200-5230400	Active TSS	Brain Cingulate Gyrus	brain
45	chr7:5229200-5230400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr7:5229200-5230400	Active TSS	Fetal Brain Female	brain
47	chr7:5229200-5230400	Active TSS	Rectal Mucosa Donor 29	rectum
48	chr7:5229200-5230600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr7:5229200-5230600	Active TSS	Brain Hippocampus Middle	brain
50	chr7:5229200-5230800	Active TSS	HUES6 Cell Line	embryonic stem cell

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