Variant report

Variant	rs35647750
Chromosome Location	chr5:179244132-179244133
allele	A/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	POLR2A	chr5:179243797-179244165	HUVEC	blood vessel:	n/a	n/a
2	CCNT2	chr5:179244068-179244216	K562	blood:	n/a	n/a
3	ELF1	chr5:179243486-179244564	GM12878	blood:	n/a	chr5:179244085-179244097 chr5:179243735-179243746
4	RAD21	chr5:179244131-179244587	H1-hESC	embryonic stem cell:	n/a	chr5:179244375-179244389 chr5:179244371-179244390
5	POLR2A	chr5:179243791-179244335	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr5:179244044-179244256	H1-hESC	embryonic stem cell:	n/a	n/a
7	GABPA	chr5:179243834-179244198	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr5:179243817-179244443	GM12878	blood:	n/a	n/a
9	POLR2A	chr5:179243845-179244442	GM12878	blood:	n/a	n/a
10	BACH1	chr5:179243959-179244449	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr5:179243956-179244132	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr5:179243857-179244423	GM12878	blood:	n/a	n/a
13	BCL3	chr5:179243870-179244412	GM12878	blood:	n/a	chr5:179243909-179243918 chr5:179243948-179243961
14	POLR2A	chr5:179243949-179244525	GM12878	blood:	n/a	n/a
15	POLR2A	chr5:179243610-179244152	PANC-1	pancreas:	n/a	n/a
16	MAZ	chr5:179243748-179244467	GM12878	blood:	n/a	n/a
17	POLR2A	chr5:179243721-179244426	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:179123896..179127851-chr5:179243560..179246560,5	K562	blood:
2	chr5:179242122..179245901-chr5:179334184..179337544,4	K562	blood:
3	chr5:179158644..179160831-chr5:179243809..179247207,3	K562	blood:
4	chr5:179161523..179163573-chr5:179243732..179245347,2	MCF-7	breast:
5	chr5:179157089..179164271-chr5:179242384..179250347,16	K562	blood:
6	chr5:179048735..179051281-chr5:179242342..179244613,2	MCF-7	breast:
7	chr5:179242622..179245445-chr5:180672767..180675405,2	MCF-7	breast:

Variant related genes	Relation type
SQSTM1	TF binding region
ENSG00000233937	Chromatin interaction
ENSG00000204628	Chromatin interaction
ENSG00000161021	Chromatin interaction
ENSG00000197226	Chromatin interaction
ENSG00000127022	Chromatin interaction
ENSG00000169045	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs35667813	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs36086003	0.95[ASN][1000 genomes]
rs3776944	0.86[ASN][1000 genomes]
rs58926938	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59939051	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60291142	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949554	chr5:178832325-179309513	Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
2	nsv883270	chr5:178951106-179350387	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
3	nsv531997	chr5:179107599-179588082	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	339 gene(s)	inside rSNPs	diseases
4	nsv469579	chr5:179184831-179360191	Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
5	nsv883274	chr5:179186397-179310330	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
6	nsv883275	chr5:179193598-179267783	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
7	nsv883276	chr5:179193598-179310330	Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
8	nsv883277	chr5:179193598-179350387	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
9	nsv823361	chr5:179213324-179251243	Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	173 gene(s)	inside rSNPs	diseases
10	nsv883279	chr5:179214818-179248774	Enhancers Strong transcription Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	173 gene(s)	inside rSNPs	diseases
11	nsv883281	chr5:179220010-179250500	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	173 gene(s)	inside rSNPs	diseases
12	nsv883284	chr5:179220638-179246415	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	158 gene(s)	inside rSNPs	diseases
13	nsv1030437	chr5:179235423-179649944	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
14	nsv537982	chr5:179235423-179649944	Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	189 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179233400-179244400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr5:179234600-179244200	Weak transcription	NHEK	skin
3	chr5:179234600-179245200	Weak transcription	HSMMtube	muscle
4	chr5:179234600-179245800	Weak transcription	Fetal Kidney	kidney
5	chr5:179235600-179244400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr5:179238800-179244400	Weak transcription	Hela-S3	cervix
7	chr5:179240400-179245200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr5:179240600-179245200	Weak transcription	HSMM	muscle
9	chr5:179241600-179244200	Weak transcription	Primary T cells from cord blood	blood
10	chr5:179241800-179244400	Weak transcription	K562	blood
11	chr5:179242000-179245000	Weak transcription	HepG2	liver
12	chr5:179242000-179245400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr5:179242200-179245400	Weak transcription	Fetal Lung	lung
14	chr5:179243000-179246800	Weak transcription	Dnd41	blood
15	chr5:179243200-179244400	Weak transcription	A549	lung
16	chr5:179243200-179245200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:179243200-179245400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
18	chr5:179243400-179244200	Active TSS	Brain Cingulate Gyrus	brain
19	chr5:179243400-179244200	Enhancers	Placenta	Placenta
20	chr5:179243400-179244400	Active TSS	H9 Cell Line	embryonic stem cell
21	chr5:179243400-179244400	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr5:179243400-179244400	Bivalent/Poised TSS	Fetal Stomach	stomach
23	chr5:179243400-179244600	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr5:179243400-179244600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
25	chr5:179243400-179244600	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr5:179243400-179244800	Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr5:179243400-179245600	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr5:179243400-179247200	Enhancers	Spleen	Spleen
29	chr5:179243600-179244200	Active TSS	Left Ventricle	heart
30	chr5:179243600-179244200	Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr5:179243600-179244400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr5:179243600-179244400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr5:179243600-179244400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
34	chr5:179243600-179244400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
35	chr5:179243600-179244400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr5:179243600-179244400	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr5:179243600-179244400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr5:179243600-179244400	Active TSS	Brain Angular Gyrus	brain
39	chr5:179243600-179244400	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr5:179243600-179244400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr5:179243600-179244400	Active TSS	Brain Substantia Nigra	brain
42	chr5:179243600-179244400	Active TSS	Colon Smooth Muscle	Colon
43	chr5:179243600-179244400	Active TSS	Duodenum Mucosa	Duodenum
44	chr5:179243600-179244400	Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr5:179243600-179244400	Bivalent/Poised TSS	Fetal Brain Female	brain
46	chr5:179243600-179244400	Active TSS	Ovary	ovary
47	chr5:179243600-179244400	Active TSS	Rectal Mucosa Donor 31	rectum
48	chr5:179243600-179244400	Active TSS	Rectal Smooth Muscle	rectum
49	chr5:179243600-179244600	Active TSS	ES-I3 Cell Line	embryonic stem cell
50	chr5:179243600-179244600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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