Variant report

Variant	rs73104085
Chromosome Location	chr5:61700807-61700808
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAL1	chr5:61700705-61700884	K562	blood:	n/a	n/a
2	POLR2A	chr5:61700522-61700962	MCF10A-Er-Src	breast:	n/a	n/a
3	FOXA1	chr5:61700721-61700987	T-47D	breast:	n/a	n/a
4	POLR2A	chr5:61700650-61701147	HepG2	liver:	n/a	n/a
5	POLR2A	chr5:61700795-61700822	Hela-S3	cervix:	n/a	n/a
6	ZNF384	chr5:61699596-61701006	K562	blood:	n/a	n/a
7	POLR2A	chr5:61700699-61701180	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:61601799..61604714-chr5:61698844..61701505,2	MCF-7	breast:
2	chr5:61696503..61703698-chr5:61706632..61711868,15	MCF-7	breast:
3	chr5:61696900..61702493-chr5:61705289..61710261,23	K562	blood:
4	chr5:61697532..61701694-chr5:61703408..61710603,12	MCF-7	breast:
5	chr5:61601958..61603491-chr5:61698096..61700949,2	MCF-7	breast:

No data

Variant related genes	Relation type
DIMT1	TF binding region
ENSG00000086200	Chromatin interaction
ENSG00000068796	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs13347319	1.00[AMR][1000 genomes]
rs57547851	1.00[AMR][1000 genomes]
rs58260058	1.00[AMR][1000 genomes]
rs59475513	1.00[AMR][1000 genomes]
rs6449599	1.00[AMR][1000 genomes]
rs6880262	1.00[AMR][1000 genomes]
rs6894930	1.00[AMR][1000 genomes]
rs73105924	1.00[AMR][1000 genomes]
rs73105940	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73108016	1.00[AMR][1000 genomes]
rs73108066	1.00[AMR][1000 genomes]
rs73108081	1.00[AMR][1000 genomes]
rs73108086	1.00[AMR][1000 genomes]
rs73110021	1.00[AMR][1000 genomes]
rs73119531	1.00[AMR][1000 genomes]
rs9764843	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024090	chr5:61258759-61921150	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv2759345	chr5:61403138-61748912	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1020255	chr5:61451792-62031365	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv1027539	chr5:61457762-62000008	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv881727	chr5:61578041-61700970	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv1033578	chr5:61606610-61911153	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv1025145	chr5:61624735-61824265	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	nsv1029708	chr5:61625813-61877628	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	nsv881728	chr5:61630879-61857577	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	esv2757117	chr5:61649403-61748912	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
11	nsv598348	chr5:61650843-61895124	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
12	esv35035	chr5:61657943-61792243	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:61698200-61701000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr5:61698400-61701000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr5:61698400-61701000	Active TSS	Stomach Smooth Muscle	stomach
4	chr5:61698600-61701000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:61698600-61701000	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr5:61698800-61701000	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr5:61698800-61701000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:61698800-61701200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:61699000-61701000	Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr5:61699000-61701000	Active TSS	Muscle Satellite Cultured Cells	--
11	chr5:61699200-61701000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:61699200-61701000	Active TSS	Duodenum Mucosa	Duodenum
13	chr5:61699200-61701000	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr5:61699600-61701000	Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr5:61700200-61701000	Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr5:61700400-61701000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr5:61700400-61701000	Enhancers	Liver	Liver
18	chr5:61700400-61701000	Flanking Active TSS	Dnd41	blood
19	chr5:61700600-61701000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:61700600-61701000	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr5:61700600-61701000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr5:61700600-61701000	Flanking Active TSS	NHEK	skin
23	chr5:61700600-61707800	Weak transcription	Right Ventricle	heart
24	chr5:61700800-61701000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr5:61700800-61701000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
26	chr5:61700800-61701000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr5:61700800-61701000	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr5:61700800-61701000	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr5:61700800-61701000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr5:61700800-61701000	Enhancers	Primary T cells from cord blood	blood
31	chr5:61700800-61701000	Enhancers	Primary hematopoietic stem cells	blood
32	chr5:61700800-61701000	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr5:61700800-61701000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr5:61700800-61701000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr5:61700800-61701000	Enhancers	Colon Smooth Muscle	Colon
36	chr5:61700800-61701000	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr5:61700800-61701000	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr5:61700800-61701000	Flanking Active TSS	A549	lung
39	chr5:61700800-61701000	Enhancers	Hela-S3	cervix
40	chr5:61700800-61701000	Flanking Active TSS	HMEC	breast
41	chr5:61700800-61701000	Enhancers	NH-A	brain
42	chr5:61700800-61701000	Flanking Active TSS	NHDF-Ad	bronchial
43	chr5:61700800-61701000	Flanking Active TSS	NHLF	lung
44	chr5:61700800-61701000	Enhancers	Osteobl	bone
45	chr5:61700800-61701200	Enhancers	Brain Substantia Nigra	brain
46	chr5:61700800-61701200	Flanking Active TSS	HepG2	liver
47	chr5:61700800-61701200	Flanking Active TSS	K562	blood
48	chr5:61700800-61707600	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr5:61700800-61707600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr5:61700800-61707600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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