Variant report

Variant	rs116012360
Chromosome Location	chr4:78637403-78637404
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:78635590..78638425-chr4:78740544..78742482,2	K562	blood:
2	chr4:78635743..78638907-chr4:78739780..78742951,3	K562	blood:

Variant related genes	Relation type
ENSG00000138767	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829976	chr4:78576657-78757798	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv518757	chr4:78637265-78695138	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78621400-78645800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr4:78621600-78643800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr4:78622000-78638800	Weak transcription	NHEK	skin
4	chr4:78625000-78638800	Weak transcription	Fetal Muscle Leg	muscle
5	chr4:78626400-78644400	Weak transcription	Placenta	Placenta
6	chr4:78626400-78645200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr4:78628400-78638200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr4:78628400-78638800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:78628400-78648400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr4:78628600-78641400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr4:78629000-78649400	Weak transcription	HMEC	breast
12	chr4:78629200-78676600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr4:78629400-78638200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr4:78629400-78649400	Weak transcription	Spleen	Spleen
15	chr4:78629400-78656200	Weak transcription	Small Intestine	intestine
16	chr4:78630000-78643600	Weak transcription	Duodenum Mucosa	Duodenum
17	chr4:78630200-78660000	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr4:78631200-78656000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr4:78631400-78639000	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr4:78631400-78643400	Weak transcription	Gastric	stomach
21	chr4:78631600-78638400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr4:78631600-78649400	Weak transcription	Brain Hippocampus Middle	brain
23	chr4:78631600-78652600	Weak transcription	Esophagus	oesophagus
24	chr4:78631800-78638000	Weak transcription	Fetal Intestine Large	intestine
25	chr4:78631800-78638800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr4:78631800-78640800	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr4:78631800-78649400	Weak transcription	Aorta	Aorta
28	chr4:78632000-78651800	Weak transcription	HepG2	liver
29	chr4:78632400-78640600	Weak transcription	Adipose Nuclei	Adipose
30	chr4:78632400-78642800	Weak transcription	Fetal Intestine Small	intestine
31	chr4:78632600-78697800	Weak transcription	Colonic Mucosa	Colon
32	chr4:78633200-78639400	Strong transcription	Fetal Thymus	thymus
33	chr4:78633400-78641400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr4:78633600-78641400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr4:78633600-78642800	Weak transcription	Fetal Stomach	stomach
36	chr4:78633600-78645200	Weak transcription	Pancreas	Pancrea
37	chr4:78633800-78639200	Strong transcription	Dnd41	blood
38	chr4:78634000-78647600	Weak transcription	HSMM	muscle
39	chr4:78634200-78643400	Weak transcription	Lung	lung
40	chr4:78634400-78638200	Weak transcription	Left Ventricle	heart
41	chr4:78634400-78640600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr4:78634400-78643400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr4:78634600-78642400	Weak transcription	HSMMtube	muscle
44	chr4:78634800-78638000	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr4:78634800-78638200	Weak transcription	Thymus	Thymus
46	chr4:78634800-78643000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr4:78634800-78643000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr4:78635000-78638800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr4:78635000-78646000	Weak transcription	Fetal Lung	lung
50	chr4:78635600-78639400	Strong transcription	Monocytes-CD14+_RO01746	blood

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