Variant report

Variant	rs12500578
Chromosome Location	chr4:78785048-78785049
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:78738995..78744410-chr4:78782336..78785612,12	K562	blood:
2	chr12:51157111..51157871-chr4:78784453..78785369,2	Hela-S3	cervix:
3	chr4:78738764..78744926-chr4:78780904..78785516,9	MCF-7	breast:
4	chr4:78739289..78742998-chr4:78782109..78787360,12	MCF-7	breast:
5	chr4:78782853..78785738-chr4:78785814..78790538,6	MCF-7	breast:
6	chr4:78783315..78786116-chr4:78803157..78806156,2	MCF-7	breast:
7	chr4:78783859..78785659-chr4:78829258..78831450,2	K562	blood:
8	chr4:78734703..78743448-chr4:78779372..78785561,20	K562	blood:

No data

Variant related genes	Relation type
ENSG00000123268	Chromatin interaction
ENSG00000250214	Chromatin interaction
ENSG00000169288	Chromatin interaction
ENSG00000138767	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10518182	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][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	nsv879501	chr4:78647634-78866007	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers 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	12 gene(s)	inside rSNPs	diseases
2	esv1818157	chr4:78678104-78849088	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	esv2752050	chr4:78693311-78975321	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv1010714	chr4:78742505-78991030	Weak transcription Genic enhancers Bivalent/Poised TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	esv1824966	chr4:78747771-78823070	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv516836	chr4:78748977-78981919	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv594704	chr4:78748977-78981919	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv461562	chr4:78757015-78981919	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv461563	chr4:78757015-78981919	Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	nsv594705	chr4:78757015-78981919	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	nsv1008217	chr4:78777531-78957311	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv537145	chr4:78777531-78957311	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78782600-78785200	Active TSS	Stomach Smooth Muscle	stomach
2	chr4:78782600-78785400	Active TSS	Thymus	Thymus
3	chr4:78782800-78785600	Active TSS	GM12878-XiMat	blood
4	chr4:78783000-78785200	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr4:78783000-78785200	Active TSS	H1 Cell Line	embryonic stem cell
6	chr4:78783000-78785200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr4:78783000-78785200	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr4:78783000-78785400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:78783200-78785200	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr4:78783200-78785200	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr4:78783200-78785200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
12	chr4:78783200-78785200	Active TSS	Skeletal Muscle Male	skeletal muscle
13	chr4:78783200-78785200	Active TSS	A549	lung
14	chr4:78783200-78785200	Active TSS	NHDF-Ad	bronchial
15	chr4:78783200-78785400	Active TSS	Fetal Kidney	kidney
16	chr4:78783200-78785400	Active TSS	Hela-S3	cervix
17	chr4:78783200-78785400	Active TSS	K562	blood
18	chr4:78783200-78785400	Active TSS	NHLF	lung
19	chr4:78783200-78785600	Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr4:78783200-78785600	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr4:78783400-78785200	Active TSS	Muscle Satellite Cultured Cells	--
22	chr4:78783400-78785400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr4:78783400-78785600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr4:78784200-78785200	Flanking Active TSS	Primary T cells from cord blood	blood
25	chr4:78784200-78785200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
26	chr4:78784400-78785200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
27	chr4:78784400-78785200	Flanking Active TSS	Duodenum Mucosa	Duodenum
28	chr4:78784400-78785400	Flanking Active TSS	Primary hematopoietic stem cells	blood
29	chr4:78784400-78793600	Weak transcription	Spleen	Spleen
30	chr4:78784600-78785200	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr4:78784600-78785200	Active TSS	HepG2	liver
32	chr4:78784600-78785400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr4:78784600-78785400	Enhancers	Fetal Heart	heart
34	chr4:78784600-78785600	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr4:78784600-78785600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
36	chr4:78784600-78785600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr4:78784600-78785600	Flanking Active TSS	Dnd41	blood
38	chr4:78784600-78790200	Weak transcription	Stomach Mucosa	stomach
39	chr4:78784600-78791000	Weak transcription	Ovary	ovary
40	chr4:78784600-78793600	Weak transcription	Left Ventricle	heart
41	chr4:78784600-78795800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr4:78784600-78801800	Weak transcription	Aorta	Aorta
43	chr4:78784800-78785200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
44	chr4:78784800-78785200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
45	chr4:78784800-78785200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
46	chr4:78784800-78785200	Enhancers	Colon Smooth Muscle	Colon
47	chr4:78784800-78785200	Enhancers	Fetal Brain Male	brain
48	chr4:78784800-78785200	Flanking Active TSS	Fetal Brain Female	brain
49	chr4:78784800-78785200	Flanking Active TSS	Fetal Lung	lung
50	chr4:78784800-78785200	Enhancers	Placenta Amnion	Placenta Amnion

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