Variant report

Variant	rs397994917
Chromosome Location	chr4:110351238-110351239
allele	-/A
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:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr4:110350104..110351990-chr4:110609862..110612756,2	K562	blood:
2	chr4:110346840..110352517-chr4:110352798..110357196,11	MCF-7	breast:
3	chr4:110346614..110351456-chr4:110352636..110356029,5	MCF-7	breast:
4	chr4:110350104..110352430-chr4:110610795..110612756,2	K562	blood:
5	chr4:110349880..110352137-chr4:110747017..110748778,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-COL25A1-1	chr4:110351119-110351936	ENSG00000247950

No data

Variant related genes	Relation type
ENSG00000247950	Chromatin interaction
ENSG00000138802	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461613	chr4:109922064-110593460	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv595129	chr4:109922064-110593460	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv1793428	chr4:110340134-110355591	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	esv3349784	chr4:110348873-110723163	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	esv1840909	chr4:110350409-110355591	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	esv1475218	chr4:110351237-110351238	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110328800-110353600	Weak transcription	Brain Germinal Matrix	brain
2	chr4:110333200-110352800	Weak transcription	Fetal Intestine Small	intestine
3	chr4:110333800-110353400	Weak transcription	HSMM	muscle
4	chr4:110334400-110351600	Weak transcription	Fetal Muscle Leg	muscle
5	chr4:110341600-110353200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr4:110342200-110353600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr4:110343800-110351800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr4:110343800-110353400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr4:110343800-110353600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr4:110344000-110351400	Weak transcription	Fetal Muscle Trunk	muscle
11	chr4:110344000-110353000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr4:110344000-110353200	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr4:110344000-110353200	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr4:110344000-110353200	Weak transcription	Fetal Kidney	kidney
15	chr4:110344000-110353400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr4:110344000-110353400	Weak transcription	Liver	Liver
17	chr4:110344000-110353400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr4:110344000-110353400	Weak transcription	Osteobl	bone
19	chr4:110344000-110353600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr4:110344000-110353600	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr4:110344000-110353600	Weak transcription	Fetal Thymus	thymus
22	chr4:110344000-110353600	Weak transcription	NHDF-Ad	bronchial
23	chr4:110344000-110353800	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr4:110344000-110353800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr4:110344000-110353800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr4:110344000-110353800	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr4:110344200-110353400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr4:110344200-110353600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr4:110345200-110354200	Weak transcription	Ovary	ovary
30	chr4:110345600-110354000	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr4:110346000-110353400	Weak transcription	NH-A	brain
32	chr4:110346000-110354400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr4:110346200-110351400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr4:110346200-110353000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr4:110346200-110353400	Weak transcription	Fetal Stomach	stomach
36	chr4:110346400-110351400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr4:110346800-110353400	Weak transcription	Fetal Intestine Large	intestine
38	chr4:110348200-110353000	Weak transcription	Fetal Lung	lung
39	chr4:110348200-110354000	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr4:110348400-110353200	Weak transcription	HMEC	breast
41	chr4:110348400-110353600	Weak transcription	Primary T cells from cord blood	blood
42	chr4:110348400-110353800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr4:110348400-110354000	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr4:110348600-110353600	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr4:110348600-110353800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr4:110348800-110353000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr4:110348800-110353400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr4:110349200-110353400	Weak transcription	NHEK	skin
49	chr4:110349400-110351600	Enhancers	HUVEC	blood vessel
50	chr4:110349400-110353600	Weak transcription	Brain Cingulate Gyrus	brain

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