Variant report

Variant	rs202050294
Chromosome Location	chr4:57312883-57312884
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	POLR2A	chr4:57312873-57312993	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:57309121..57311170-chr4:57312040..57313868,2	MCF-7	breast:

Variant related genes	Relation type
PAICS	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 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	esv3393342	chr4:57312782-57313375	Weak transcription Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57303400-57330800	Weak transcription	Spleen	Spleen
2	chr4:57303800-57326000	Weak transcription	Gastric	stomach
3	chr4:57303800-57331000	Weak transcription	Stomach Mucosa	stomach
4	chr4:57303800-57332000	Weak transcription	Small Intestine	intestine
5	chr4:57304000-57315800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:57304000-57330000	Weak transcription	Pancreas	Pancrea
7	chr4:57304000-57330000	Weak transcription	Right Ventricle	heart
8	chr4:57304000-57331800	Weak transcription	Esophagus	oesophagus
9	chr4:57304200-57314600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr4:57304200-57314800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr4:57304200-57317400	Weak transcription	Thymus	Thymus
12	chr4:57304200-57318800	Weak transcription	Colon Smooth Muscle	Colon
13	chr4:57304200-57319200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr4:57304200-57331800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr4:57304400-57314000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr4:57304400-57314000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr4:57304400-57314600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr4:57304400-57314600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr4:57304400-57314600	Weak transcription	Fetal Brain Female	brain
20	chr4:57304400-57314600	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr4:57304400-57314800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr4:57304400-57314800	Weak transcription	Adipose Nuclei	Adipose
23	chr4:57304400-57314800	Weak transcription	Brain Cingulate Gyrus	brain
24	chr4:57304400-57315200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr4:57304400-57315600	Weak transcription	Fetal Stomach	stomach
26	chr4:57304400-57317200	Weak transcription	Ovary	ovary
27	chr4:57304400-57317800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr4:57304400-57318400	Weak transcription	Psoas Muscle	Psoas
29	chr4:57304400-57318600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr4:57304400-57319800	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr4:57304400-57320200	Weak transcription	Fetal Heart	heart
32	chr4:57304400-57320200	Weak transcription	Rectal Smooth Muscle	rectum
33	chr4:57304400-57321200	Weak transcription	HSMMtube	muscle
34	chr4:57304400-57330800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr4:57304400-57330800	Weak transcription	Brain Substantia Nigra	brain
36	chr4:57304400-57331400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr4:57305800-57330400	Strong transcription	Fetal Thymus	thymus
38	chr4:57306200-57314000	Weak transcription	Fetal Intestine Small	intestine
39	chr4:57306200-57314600	Weak transcription	Duodenum Mucosa	Duodenum
40	chr4:57306200-57330200	Weak transcription	Brain Angular Gyrus	brain
41	chr4:57306200-57332200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr4:57306600-57323200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr4:57306600-57329400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr4:57306600-57330200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr4:57306600-57330400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr4:57306800-57316200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr4:57306800-57321800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr4:57306800-57322200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr4:57306800-57330200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr4:57306800-57331000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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