Variant report

Variant	rs28649329
Chromosome Location	chr4:57314413-57314414
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:57301885..57304341-chr4:57313325..57315298,2	MCF-7	breast:
2	chr4:57251518..57253690-chr4:57313439..57315337,2	K562	blood:

Variant related genes	Relation type
ENSG00000157426	Chromatin interaction
ENSG00000128050	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs17086746	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17086755	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17086769	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17086776	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17086786	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17086844	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17086879	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17086893	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17086906	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17086908	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17086924	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2292984	1.00[EUR][1000 genomes]
rs34228795	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34543011	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3796543	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4074775	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs41476944	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57439970	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58337902	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61580407	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61732641	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73155895	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73155901	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73157733	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73157739	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73157754	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73157769	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73157772	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73157774	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73157784	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73159992	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73162272	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73167378	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73167396	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

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	chr4:57304400-57314600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr4:57304400-57314600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr4:57304400-57314600	Weak transcription	Fetal Brain Female	brain
18	chr4:57304400-57314600	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr4:57304400-57314800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr4:57304400-57314800	Weak transcription	Adipose Nuclei	Adipose
21	chr4:57304400-57314800	Weak transcription	Brain Cingulate Gyrus	brain
22	chr4:57304400-57315200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr4:57304400-57315600	Weak transcription	Fetal Stomach	stomach
24	chr4:57304400-57317200	Weak transcription	Ovary	ovary
25	chr4:57304400-57317800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr4:57304400-57318400	Weak transcription	Psoas Muscle	Psoas
27	chr4:57304400-57318600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr4:57304400-57319800	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr4:57304400-57320200	Weak transcription	Fetal Heart	heart
30	chr4:57304400-57320200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr4:57304400-57321200	Weak transcription	HSMMtube	muscle
32	chr4:57304400-57330800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr4:57304400-57330800	Weak transcription	Brain Substantia Nigra	brain
34	chr4:57304400-57331400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr4:57305800-57330400	Strong transcription	Fetal Thymus	thymus
36	chr4:57306200-57314600	Weak transcription	Duodenum Mucosa	Duodenum
37	chr4:57306200-57330200	Weak transcription	Brain Angular Gyrus	brain
38	chr4:57306200-57332200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr4:57306600-57323200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr4:57306600-57329400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr4:57306600-57330200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr4:57306600-57330400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr4:57306800-57316200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr4:57306800-57321800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr4:57306800-57322200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr4:57306800-57330200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr4:57306800-57331000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr4:57307000-57325800	Strong transcription	HMEC	breast
49	chr4:57307000-57326200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr4:57307000-57330000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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