Variant report

Variant	rs61708329
Chromosome Location	chr5:178487201-178487202
allele	G/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	POLR2A	chr5:178486989-178487666	MCF10A-Er-Src	breast:	n/a	n/a
2	EP300	chr5:178487117-178487495	T-47D	breast:	n/a	n/a
3	MYC	chr5:178487062-178487388	MCF10A-Er-Src	breast:	n/a	chr5:178487343-178487352
4	E2F6	chr5:178486963-178487539	H1-hESC	embryonic stem cell:	n/a	n/a
5	MXI1	chr5:178487037-178487413	H1-hESC	embryonic stem cell:	n/a	n/a
6	NR2F2	chr5:178487182-178488126	MCF-7	breast:	n/a	n/a
7	MAX	chr5:178486884-178487680	A549	lung:	n/a	chr5:178487343-178487352
8	ELF1	chr5:178486956-178487731	MCF-7	breast:	n/a	chr5:178487117-178487128 chr5:178487278-178487287
9	POLR2A	chr5:178487008-178487635	HUVEC	blood vessel:	n/a	n/a
10	POLR2A	chr5:178487113-178487345	A549	lung:	n/a	n/a
11	ZNF143	chr5:178486954-178487593	H1-hESC	embryonic stem cell:	n/a	chr5:178487358-178487376 chr5:178487323-178487341 chr5:178487332-178487341 chr5:178487330-178487339
12	POLR2A	chr5:178487045-178487582	H1-neurons	neurons:	n/a	n/a
13	MYC	chr5:178487084-178487487	HUVEC	blood vessel:	n/a	chr5:178487343-178487352
14	MYC	chr5:178487179-178487343	MCF-7	breast:	n/a	n/a
15	MYC	chr5:178487149-178487326	MCF-7	breast:	n/a	n/a
16	CTCF	chr5:178487080-178487230	HCPEpiC	choroid plexus:	n/a	n/a
17	POLR2A	chr5:178486972-178487651	HL-60	blood:	n/a	n/a
18	E2F4	chr5:178486988-178487514	MCF10A-Er-Src	breast:	n/a	n/a
19	E2F6	chr5:178486871-178488224	H1-hESC	embryonic stem cell:	n/a	n/a
20	MAX	chr5:178486870-178487782	A549	lung:	n/a	chr5:178487343-178487352
21	POLR2A	chr5:178487040-178487492	PANC-1	pancreas:	n/a	n/a
22	SP1	chr5:178487072-178487498	A549	lung:	n/a	n/a
23	POLR2A	chr5:178487001-178487744	HUVEC	blood vessel:	n/a	n/a
24	POLR2A	chr5:178486912-178487761	ProgFib	skin:	n/a	n/a
25	MAX	chr5:178486903-178487626	H1-hESC	embryonic stem cell:	n/a	chr5:178487343-178487352
26	POLR2A	chr5:178487086-178487447	SK-N-SH	brain:	n/a	n/a
27	POLR2A	chr5:178486931-178487630	MCF-7	breast:	n/a	n/a
28	MYC	chr5:178487117-178487440	MCF-7	breast:	n/a	chr5:178487343-178487352
29	POLR2A	chr5:178487064-178487399	PFSK-1	brain:	n/a	n/a
30	TAF1	chr5:178487085-178487633	SK-N-SH	brain:	n/a	n/a
31	POLR2A	chr5:178486983-178487530	SK-N-MC	brain:	n/a	n/a
32	CTCF	chr5:178487164-178487297	MCF-7	breast:	n/a	n/a
33	EP300	chr5:178487092-178487428	SK-N-SH_RA	brain:	n/a	chr5:178487114-178487128
34	MAX	chr5:178486932-178487594	MCF-7	breast:	n/a	chr5:178487343-178487352
35	ETS1	chr5:178487093-178487535	A549	lung:	n/a	chr5:178487117-178487126 chr5:178487330-178487343 chr5:178487329-178487342 chr5:178487118-178487127 chr5:178487114-178487130 chr5:178487117-178487126 chr5:178487365-178487378 chr5:178487119-178487128 chr5:178487364-178487377 chr5:178487117-178487126
36	POLR2A	chr5:178486957-178487691	SK-N-MC	brain:	n/a	n/a
37	CTCF	chr5:178487200-178487350	HMEC	breast:	n/a	n/a
38	FOXP2	chr5:178487077-178487438	SK-N-MC	brain:	n/a	n/a
39	ZBTB33	chr5:178487188-178487575	A549	lung:	n/a	n/a
40	CTCF	chr5:178487192-178487290	NHEK	skin:	n/a	n/a
41	POLR2A	chr5:178487136-178487446	A549	lung:	n/a	n/a
42	EGR1	chr5:178486964-178487714	MCF-7	breast:	n/a	chr5:178487527-178487540 chr5:178487318-178487342 chr5:178487277-178487288 chr5:178487526-178487541 chr5:178487353-178487377
43	POLR2A	chr5:178487022-178487593	SK-N-SH	brain:	n/a	n/a
44	ELF1	chr5:178487030-178487671	MCF-7	breast:	n/a	chr5:178487117-178487128 chr5:178487278-178487287
45	MAX	chr5:178486990-178487426	ECC-1	luminal epithelium:	n/a	chr5:178487343-178487352
46	ZNF143	chr5:178487121-178487561	GM12878	blood:	n/a	chr5:178487358-178487376 chr5:178487323-178487341 chr5:178487332-178487341 chr5:178487330-178487339
47	MAX	chr5:178487052-178487488	HUVEC	blood vessel:	n/a	chr5:178487343-178487352
48	ETS1	chr5:178487054-178487717	A549	lung:	n/a	chr5:178487117-178487126 chr5:178487330-178487343 chr5:178487329-178487342 chr5:178487118-178487127 chr5:178487114-178487130 chr5:178487117-178487126 chr5:178487365-178487378 chr5:178487119-178487128 chr5:178487364-178487377 chr5:178487117-178487126
49	POLR2A	chr5:178487020-178487625	H1-neurons	neurons:	n/a	n/a
50	POLR2A	chr5:178487084-178487601	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:178483088..178485401-chr5:178485853..178487367,2	MCF-7	breast:

Variant related genes	Relation type
ZNF354C	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs35376935	1.00[AMR][1000 genomes]
rs58240742	1.00[AMR][1000 genomes]
rs58491490	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6873845	1.00[AMR][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	nsv1024560	chr5:178415364-178917595	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv537975	chr5:178415364-178917595	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv817413	chr5:178415365-179020558	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	nsv1033597	chr5:178423101-178752095	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1018650	chr5:178428743-178515196	Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv1024994	chr5:178429975-178505167	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv1025616	chr5:178429975-178515196	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv1026351	chr5:178429975-178535309	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
9	nsv1031829	chr5:178442633-178658706	Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv1027487	chr5:178455495-178510587	Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
11	nsv482750	chr5:178482653-178663586	Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178483400-178487400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:178486400-178488200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr5:178486600-178487800	Active TSS	Primary T helper naive cells from peripheral blood	blood
4	chr5:178486600-178487800	Active TSS	Primary T helper cells PMA-I stimulated	--
5	chr5:178486600-178487800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:178486600-178487800	Active TSS	Brain Hippocampus Middle	brain
7	chr5:178486600-178487800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr5:178486600-178487800	Active TSS	Duodenum Mucosa	Duodenum
9	chr5:178486600-178487800	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr5:178486600-178487800	Active TSS	Fetal Heart	heart
11	chr5:178486600-178487800	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr5:178486600-178487800	Active TSS	Right Atrium	heart
13	chr5:178486600-178488000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
14	chr5:178486600-178488000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:178486600-178488000	Active TSS	Brain Angular Gyrus	brain
16	chr5:178486600-178488000	Active TSS	Colon Smooth Muscle	Colon
17	chr5:178486600-178488000	Active TSS	Psoas Muscle	Psoas
18	chr5:178486600-178488200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr5:178486600-178488200	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr5:178486600-178488200	Active TSS	Rectal Mucosa Donor 31	rectum
21	chr5:178486600-178488600	Active TSS	Fetal Kidney	kidney
22	chr5:178486600-178489000	Active TSS	Rectal Smooth Muscle	rectum
23	chr5:178486800-178487400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
24	chr5:178486800-178487400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr5:178486800-178487600	Active TSS	Primary monocytes fromperipheralblood	blood
26	chr5:178486800-178487600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr5:178486800-178487800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr5:178486800-178487800	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr5:178486800-178487800	Active TSS	Primary T cells from cord blood	blood
30	chr5:178486800-178487800	Active TSS	Primary T cells fromperipheralblood	blood
31	chr5:178486800-178487800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
32	chr5:178486800-178487800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr5:178486800-178487800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
34	chr5:178486800-178487800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr5:178486800-178487800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr5:178486800-178487800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
37	chr5:178486800-178487800	Active TSS	Fetal Muscle Leg	muscle
38	chr5:178486800-178487800	Active TSS	Stomach Mucosa	stomach
39	chr5:178486800-178487800	Active TSS	HMEC	breast
40	chr5:178486800-178487800	Active TSS	NHEK	skin
41	chr5:178486800-178488000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
42	chr5:178486800-178488000	Active TSS	Aorta	Aorta
43	chr5:178486800-178488000	Active TSS	Brain Cingulate Gyrus	brain
44	chr5:178486800-178488000	Active TSS	Brain Substantia Nigra	brain
45	chr5:178486800-178488000	Active TSS	Colonic Mucosa	Colon
46	chr5:178486800-178488000	Active TSS	Fetal Brain Male	brain
47	chr5:178486800-178488000	Active TSS	Ovary	ovary
48	chr5:178486800-178488000	Active TSS	Right Ventricle	heart
49	chr5:178486800-178488000	Active TSS	Osteobl	bone
50	chr5:178486800-178488200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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