Variant report

Variant	rs568135248
Chromosome Location	chr4:8271947-8271948
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:105156345..105156947-chr4:8271069..8272007,2	NB4	blood:
2	chr4:8271372..8272005-chr5:137514142..137514696,2	NB4	blood:

Variant related genes	Relation type
ENSG00000112983	Chromatin interaction
ENSG00000112984	Chromatin interaction
ENSG00000148843	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010809	chr4:8097627-8292324	Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1002794	chr4:8110083-8490934	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv461216	chr4:8154534-8276411	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv593626	chr4:8154534-8276411	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv878594	chr4:8154534-8286916	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv878595	chr4:8154534-8390646	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv878597	chr4:8171401-8294196	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	nsv829853	chr4:8172065-8320868	Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv878599	chr4:8195705-8293398	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv593627	chr4:8202211-8311043	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
11	nsv878600	chr4:8209447-8312158	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases
12	nsv878601	chr4:8214767-8440951	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
13	nsv878602	chr4:8214767-8448992	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
14	nsv1009011	chr4:8225669-8424831	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
15	esv1794365	chr4:8254784-8271983	Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
16	esv1797624	chr4:8254784-8271983	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
17	esv1801002	chr4:8254784-8271983	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
18	nsv461218	chr4:8254784-8320126	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
19	nsv593628	chr4:8254784-8320126	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
20	esv3488096	chr4:8270752-8272900	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
21	esv3488098	chr4:8270752-8272900	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
22	esv13119	chr4:8271224-8272065	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
23	nsv593629	chr4:8271251-8271956	Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
24	nsv593630	chr4:8271251-8280040	Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
25	nsv593631	chr4:8271302-8271956	Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
26	nsv593632	chr4:8271302-8271983	Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
27	nsv593633	chr4:8271302-8280040	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
28	nsv593634	chr4:8271354-8271983	Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
29	nsv593635	chr4:8271452-8271983	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8268200-8272200	Enhancers	Fetal Heart	heart
2	chr4:8270600-8272200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
3	chr4:8270800-8272000	Bivalent/Poised TSS	HepG2	liver
4	chr4:8270800-8272400	Flanking Active TSS	Stomach Smooth Muscle	stomach
5	chr4:8270800-8272800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr4:8270800-8273800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr4:8271000-8272200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr4:8271000-8272200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr4:8271000-8272200	Bivalent Enhancer	Fetal Brain Male	brain
10	chr4:8271000-8272600	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr4:8271000-8276400	Enhancers	Spleen	Spleen
12	chr4:8271200-8272000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr4:8271200-8272000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr4:8271200-8272000	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
15	chr4:8271200-8272000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr4:8271200-8272000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
17	chr4:8271200-8272000	Active TSS	HSMM	muscle
18	chr4:8271200-8272200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr4:8271200-8272200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
20	chr4:8271200-8272200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
21	chr4:8271200-8272200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr4:8271200-8272400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
23	chr4:8271200-8272400	Enhancers	Fetal Lung	lung
24	chr4:8271200-8272400	Active TSS	Ovary	ovary
25	chr4:8271200-8272400	Active TSS	Rectal Mucosa Donor 31	rectum
26	chr4:8271200-8273400	Active TSS	Rectal Smooth Muscle	rectum
27	chr4:8271400-8272000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
28	chr4:8271400-8272000	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr4:8271400-8272000	Active TSS	H9 Cell Line	embryonic stem cell
30	chr4:8271400-8272000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
31	chr4:8271400-8272000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr4:8271400-8272000	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr4:8271400-8272000	Active TSS	Aorta	Aorta
34	chr4:8271400-8272000	Active TSS	HUVEC	blood vessel
35	chr4:8271400-8272200	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr4:8271400-8272200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
37	chr4:8271400-8272200	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
38	chr4:8271400-8272200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr4:8271400-8272200	Active TSS	Fetal Muscle Leg	muscle
40	chr4:8271400-8272400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
41	chr4:8271400-8272400	Active TSS	Left Ventricle	heart
42	chr4:8271400-8272400	Active TSS	Placenta Amnion	Placenta Amnion
43	chr4:8271400-8273000	Active TSS	Psoas Muscle	Psoas
44	chr4:8271400-8273400	Active TSS	Right Atrium	heart
45	chr4:8271400-8274200	Bivalent/Poised TSS	Colonic Mucosa	Colon
46	chr4:8271600-8272000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
47	chr4:8271600-8272000	Active TSS	Colon Smooth Muscle	Colon
48	chr4:8271600-8272000	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
49	chr4:8271600-8272000	Active TSS	Gastric	stomach
50	chr4:8271600-8272000	Flanking Active TSS	Lung	lung

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