Variant report

Variant	rs4865096
Chromosome Location	chr4:57269015-57269016
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PBX3	chr4:57268941-57269033	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:57265142..57270324-chr4:57301712..57304176,5	K562	blood:
2	chr4:57268050..57270580-chr4:57305183..57307241,2	K562	blood:
3	chr4:57268824..57271246-chr4:57301014..57303212,2	K562	blood:

Variant related genes	Relation type
PPAT	TF binding region
ENSG00000128050	Chromatin interaction
ENSG00000128059	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999639	chr4:56942917-57401310	Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1014045	chr4:56942917-57404511	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
4	nsv530121	chr4:57167367-57695576	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv4347	chr4:57261404-57280595	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	esv1801975	chr4:57267406-57297335	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
7	nsv245708	chr4:57269011-57269015	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57254200-57273800	Weak transcription	Spleen	Spleen
2	chr4:57254400-57273600	Weak transcription	Pancreas	Pancrea
3	chr4:57254600-57271600	Weak transcription	Ovary	ovary
4	chr4:57254600-57276400	Weak transcription	Psoas Muscle	Psoas
5	chr4:57254600-57280200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr4:57254800-57271600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr4:57254800-57273200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr4:57254800-57275200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr4:57254800-57275400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr4:57254800-57276400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr4:57254800-57276400	Weak transcription	Right Ventricle	heart
12	chr4:57254800-57276600	Weak transcription	Left Ventricle	heart
13	chr4:57254800-57287600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr4:57255000-57269200	Weak transcription	Fetal Muscle Trunk	muscle
15	chr4:57255000-57271400	Weak transcription	Duodenum Mucosa	Duodenum
16	chr4:57255200-57271600	Weak transcription	NHEK	skin
17	chr4:57255200-57272200	Weak transcription	Stomach Smooth Muscle	stomach
18	chr4:57255200-57275600	Weak transcription	NHLF	lung
19	chr4:57255200-57276400	Weak transcription	Colon Smooth Muscle	Colon
20	chr4:57255200-57276600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr4:57255200-57276600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr4:57255200-57276600	Weak transcription	Brain Substantia Nigra	brain
23	chr4:57255400-57272400	Weak transcription	Fetal Brain Male	brain
24	chr4:57255400-57276400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr4:57255600-57272000	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr4:57255600-57275600	Weak transcription	Fetal Brain Female	brain
27	chr4:57255800-57271600	Weak transcription	Hela-S3	cervix
28	chr4:57255800-57276600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr4:57256000-57272200	Weak transcription	Adipose Nuclei	Adipose
30	chr4:57256000-57274200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr4:57256000-57276400	Weak transcription	Brain Hippocampus Middle	brain
32	chr4:57256200-57276600	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr4:57256400-57276600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr4:57256800-57269200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr4:57257600-57272600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr4:57257600-57274200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr4:57258400-57274200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr4:57258800-57271800	Weak transcription	Brain Angular Gyrus	brain
39	chr4:57259000-57274000	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr4:57259400-57275600	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr4:57260200-57274200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr4:57260600-57273000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr4:57260800-57274200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr4:57261000-57273200	Strong transcription	Dnd41	blood
45	chr4:57261200-57271600	Weak transcription	Aorta	Aorta
46	chr4:57261200-57273000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr4:57262000-57273400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr4:57263400-57271600	Weak transcription	HSMMtube	muscle
49	chr4:57264000-57274000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr4:57264200-57274000	Strong transcription	GM12878-XiMat	blood

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