Variant report

Variant	rs138830124
Chromosome Location	chr4:144285443-144285444
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:144274310..144276106-chr4:144283049..144285599,2	MCF-7	breast:
2	chr4:144284857..144287398-chr4:144288484..144291385,2	K562	blood:
3	chr4:144283863..144286903-chr4:144287176..144291126,4	K562	blood:
4	chr4:144280022..144283375-chr4:144285064..144288406,3	K562	blood:
5	chr4:144257678..144260213-chr4:144284163..144287062,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000109458	Chromatin interaction
ENSG00000178972	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033902	chr4:144114413-144285772	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1026110	chr4:144239825-144292148	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1018566	chr4:144284927-144298930	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:144272800-144299800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr4:144276400-144286000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:144277200-144290400	Weak transcription	Pancreas	Pancrea
4	chr4:144277400-144296800	Weak transcription	HSMMtube	muscle
5	chr4:144279800-144286000	Enhancers	Brain Cingulate Gyrus	brain
6	chr4:144280400-144285600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr4:144280800-144286000	Enhancers	Brain Hippocampus Middle	brain
8	chr4:144281200-144290000	Weak transcription	Fetal Stomach	stomach
9	chr4:144281200-144296800	Weak transcription	Fetal Muscle Leg	muscle
10	chr4:144281400-144296800	Weak transcription	Fetal Kidney	kidney
11	chr4:144281800-144286000	Enhancers	Brain Substantia Nigra	brain
12	chr4:144281800-144293400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr4:144282000-144291200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr4:144282200-144285600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr4:144282600-144286000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr4:144282800-144290600	Weak transcription	Fetal Lung	lung
17	chr4:144283000-144285800	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr4:144283000-144286400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr4:144283000-144290600	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr4:144283000-144290800	Weak transcription	Primary B cells from cord blood	blood
21	chr4:144283000-144290800	Weak transcription	Gastric	stomach
22	chr4:144283000-144291200	Weak transcription	Ovary	ovary
23	chr4:144283000-144293400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr4:144283000-144295400	Weak transcription	Stomach Smooth Muscle	stomach
25	chr4:144283000-144302200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr4:144283200-144293400	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr4:144284000-144286000	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr4:144284000-144293600	Weak transcription	Spleen	Spleen
29	chr4:144284000-144296600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr4:144284000-144296600	Weak transcription	Fetal Thymus	thymus
31	chr4:144284200-144286400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr4:144284200-144287000	Weak transcription	Brain Anterior Caudate	brain
33	chr4:144284200-144295600	Weak transcription	Duodenum Mucosa	Duodenum
34	chr4:144284400-144290600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr4:144284400-144299400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr4:144284600-144286000	Enhancers	Placenta	Placenta
37	chr4:144284600-144288000	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr4:144284600-144290000	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr4:144284600-144290000	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr4:144284600-144290800	Weak transcription	Fetal Intestine Large	intestine
41	chr4:144284600-144291200	Weak transcription	Fetal Intestine Small	intestine
42	chr4:144284600-144295200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr4:144284600-144295200	Weak transcription	K562	blood
44	chr4:144284800-144285600	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr4:144284800-144285800	Weak transcription	Brain Germinal Matrix	brain
46	chr4:144284800-144286000	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr4:144284800-144290000	Weak transcription	Brain Angular Gyrus	brain
48	chr4:144284800-144295600	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr4:144285000-144285600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr4:144285000-144290000	Weak transcription	Small Intestine	intestine

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