Variant report

Variant	rs28916303
Chromosome Location	chr7:7678590-7678591
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:7678588-7681417	K562	blood:	n/a	n/a
2	RFX5	chr7:7677457-7682740	SK-N-SH	brain:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:7603046..7608569-chr7:7677123..7682101,8	MCF-7	breast:
2	chr7:7673907..7678610-chr7:7678691..7681851,6	MCF-7	breast:
3	chr7:7605040..7608458-chr7:7677009..7681661,8	K562	blood:
4	chr7:7672448..7678421-chr7:7678475..7681557,8	K562	blood:
5	chr7:7678479..7681346-chr7:8300009..8302111,2	K562	blood:
6	chr7:7658111..7660487-chr7:7677718..7679427,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-COL28A1-3	chr7:7678210-7678775	NONHSAT119122

No data

Variant related genes	Relation type
RPA3	TF binding region
RPA3-AS1	TF binding region
ENSG00000106399	Chromatin interaction
ENSG00000229970	Chromatin interaction
ENSG00000219545	Chromatin interaction
ENSG00000272894	Chromatin interaction
ENSG00000272745	Chromatin interaction
ENSG00000164654	Chromatin interaction
ENSG00000003147	Chromatin interaction
ENSG00000244239	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs4512304	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949293	chr7:6990891-7711883	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1026758	chr7:7187491-8075259	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
3	nsv887472	chr7:7405069-7680697	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv606042	chr7:7427535-7876466	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv887474	chr7:7519603-7679644	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv887475	chr7:7519603-7679644	Weak transcription Enhancers Strong transcription Active TSS 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	24 gene(s)	inside rSNPs	diseases
7	nsv887476	chr7:7519603-7680697	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	nsv887477	chr7:7531819-7810122	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
9	nsv1032670	chr7:7535515-8017077	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
10	nsv8043	chr7:7589195-7862802	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
11	nsv1034199	chr7:7617835-7691176	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers 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	nsv606044	chr7:7652372-7727101	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
13	nsv887478	chr7:7670718-7917360	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7649000-7679000	Weak transcription	HSMM	muscle
2	chr7:7669000-7679000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr7:7671400-7679200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr7:7671600-7679200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:7671600-7679200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr7:7671800-7678800	Weak transcription	NHDF-Ad	bronchial
7	chr7:7672000-7679000	Weak transcription	Fetal Intestine Large	intestine
8	chr7:7672000-7679200	Weak transcription	Aorta	Aorta
9	chr7:7672200-7679200	Weak transcription	Gastric	stomach
10	chr7:7672400-7678800	Weak transcription	K562	blood
11	chr7:7672400-7679000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr7:7672400-7679000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:7672400-7679000	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr7:7672400-7679000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr7:7672400-7679000	Weak transcription	Fetal Brain Female	brain
16	chr7:7672400-7679200	Weak transcription	Brain Substantia Nigra	brain
17	chr7:7672600-7679200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr7:7672600-7679200	Weak transcription	Ovary	ovary
19	chr7:7672600-7679400	Weak transcription	Right Ventricle	heart
20	chr7:7672800-7679000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr7:7672800-7679200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr7:7673000-7679000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr7:7673000-7679000	Weak transcription	HUVEC	blood vessel
24	chr7:7673200-7679000	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr7:7673200-7679000	Weak transcription	Fetal Kidney	kidney
26	chr7:7673400-7678800	Weak transcription	Fetal Lung	lung
27	chr7:7673400-7679000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr7:7673400-7679000	Weak transcription	Adipose Nuclei	Adipose
29	chr7:7673400-7679000	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr7:7673400-7679000	Weak transcription	Duodenum Mucosa	Duodenum
31	chr7:7673600-7679000	Weak transcription	Brain Anterior Caudate	brain
32	chr7:7673600-7679000	Weak transcription	Brain Hippocampus Middle	brain
33	chr7:7673800-7679000	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr7:7674000-7678800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr7:7674000-7679000	Weak transcription	Brain Cingulate Gyrus	brain
36	chr7:7674000-7679000	Weak transcription	Rectal Smooth Muscle	rectum
37	chr7:7674000-7679200	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr7:7674000-7679400	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr7:7674200-7678600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr7:7674200-7678800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr7:7674200-7679000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr7:7674200-7679200	Weak transcription	Placenta	Placenta
43	chr7:7674400-7679000	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr7:7674600-7679000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr7:7674600-7679000	Weak transcription	Brain Germinal Matrix	brain
46	chr7:7674600-7679200	Weak transcription	Colonic Mucosa	Colon
47	chr7:7674800-7679000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr7:7675000-7678600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr7:7675000-7679000	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr7:7675000-7679000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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