Variant report

Variant	rs3176491
Chromosome Location	chr7:48019701-48019702
allele	A/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	ZMIZ1	chr7:48018323-48019780	K562	blood:	n/a	n/a
2	NR2F2	chr7:48018700-48019779	MCF-7	breast:	n/a	chr7:48019315-48019330
3	MXI1	chr7:48017679-48019985	SK-N-SH	brain:	n/a	chr7:48018813-48018822
4	HCFC1	chr7:48018506-48019795	Hela-S3	cervix:	n/a	n/a
5	NR2F2	chr7:48018843-48019721	HepG2	liver:	n/a	chr7:48019315-48019330
6	POLR2A	chr7:48017638-48019748	GM12891	blood:	n/a	n/a
7	NR2F2	chr7:48018888-48019737	MCF-7	breast:	n/a	chr7:48019315-48019330
8	JUND	chr7:48018243-48019718	K562	blood:	n/a	n/a
9	CEBPB	chr7:48018571-48019711	Hela-S3	cervix:	n/a	n/a
10	SREBP1	chr7:48018836-48019963	GM12878	blood:	n/a	n/a
11	POLR2A	chr7:48019679-48019867	MCF10A-Er-Src	breast:	n/a	n/a
12	IRF1	chr7:48018305-48019892	K562	blood:	n/a	chr7:48019273-48019287 chr7:48018829-48018836 chr7:48019258-48019272
13	MXI1	chr7:48018182-48019833	IMR90	lung:	n/a	chr7:48018813-48018822
14	TBP	chr7:48019686-48019767	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:48017568..48020341-chr7:48128356..48131105,2	MCF-7	breast:
2	chr7:48017456..48020295-chr7:48126750..48129913,5	K562	blood:

Variant related genes	Relation type
HUS1	TF binding region
ENSG00000183696	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10261436	0.88[EUR][1000 genomes]
rs10499669	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12667562	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12669119	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17131948	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2307252	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2348665	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3176568	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3176581	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3176595	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs36213466	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4720625	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56075223	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs59023024	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs59920101	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62447088	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62447089	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62447093	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73695940	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs885338	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026223	chr7:47560728-48243287	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv869585	chr7:47765428-48151324	Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv830991	chr7:47854530-48025996	Weak transcription Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv532120	chr7:47882757-48195869	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv470221	chr7:47917495-48354363	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv464442	chr7:47917495-48354820	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv606893	chr7:47917495-48354820	Flanking Active TSS Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:48018000-48019800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr7:48018000-48019800	Active TSS	Fetal Brain Female	brain
3	chr7:48018200-48019800	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr7:48018200-48020000	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr7:48018400-48019800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr7:48018400-48019800	Active TSS	H9 Cell Line	embryonic stem cell
7	chr7:48018400-48019800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:48018400-48019800	Active TSS	Brain Angular Gyrus	brain
9	chr7:48018400-48019800	Active TSS	Brain Cingulate Gyrus	brain
10	chr7:48018400-48019800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr7:48018400-48019800	Active TSS	Fetal Brain Male	brain
12	chr7:48018600-48019800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:48018600-48019800	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr7:48018600-48019800	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr7:48018600-48019800	Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr7:48018600-48019800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:48018600-48019800	Active TSS	Brain Hippocampus Middle	brain
18	chr7:48018600-48019800	Active TSS	Fetal Thymus	thymus
19	chr7:48018600-48019800	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr7:48018600-48019800	Active TSS	Stomach Smooth Muscle	stomach
21	chr7:48018600-48019800	Active TSS	A549	lung
22	chr7:48018600-48020000	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr7:48018800-48019800	Active TSS	Primary T cells from cord blood	blood
24	chr7:48018800-48019800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr7:48018800-48019800	Active TSS	Brain Anterior Caudate	brain
26	chr7:48018800-48019800	Active TSS	Duodenum Mucosa	Duodenum
27	chr7:48019400-48019800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr7:48019400-48019800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr7:48019400-48019800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr7:48019400-48019800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr7:48019400-48022000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr7:48019400-48028800	Weak transcription	Fetal Lung	lung
33	chr7:48019600-48019800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr7:48019600-48019800	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr7:48019600-48019800	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr7:48019600-48019800	Enhancers	Primary B cells from peripheral blood	blood
37	chr7:48019600-48019800	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr7:48019600-48019800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr7:48019600-48019800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr7:48019600-48019800	Enhancers	Liver	Liver
41	chr7:48019600-48019800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr7:48019600-48019800	Enhancers	Dnd41	blood
43	chr7:48019600-48019800	Flanking Active TSS	K562	blood
44	chr7:48019600-48019800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr7:48019600-48020800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr7:48019600-48021600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr7:48019600-48022000	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr7:48019600-48022000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr7:48019600-48022000	Weak transcription	NHDF-Ad	bronchial
50	chr7:48019600-48022000	Weak transcription	NHEK	skin

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