Variant report

Variant	rs571438230
Chromosome Location	chr5:59990394-59990395
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:59982671..59990838-chr5:59991133..59997951,12	MCF-7	breast:
2	chr5:59986799..59989085-chr5:59989251..59992450,3	MCF-7	breast:
3	chr5:59982948..59985839-chr5:59989149..59990796,3	K562	blood:

Variant related genes	Relation type
ENSG00000035499	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	nsv598288	chr5:59627555-60003460	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv492277	chr5:59905195-60180834	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv462198	chr5:59969015-60116613	Strong transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv598298	chr5:59969015-60116613	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv1023403	chr5:59969534-60079822	Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv4850	chr5:59976186-60039810	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
7	nsv508362	chr5:59990308-60050894	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59969600-59994800	Weak transcription	Fetal Lung	lung
2	chr5:59971000-59993800	Weak transcription	NHLF	lung
3	chr5:59971000-59994000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr5:59971000-59994200	Weak transcription	NH-A	brain
5	chr5:59974200-59994200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr5:59974400-59993600	Weak transcription	Hela-S3	cervix
7	chr5:59977200-59991000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr5:59977200-59991200	Weak transcription	Pancreas	Pancrea
9	chr5:59977200-59994800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr5:59980200-59995200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr5:59981800-59994200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr5:59982400-59993600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr5:59982600-59994800	Weak transcription	Fetal Muscle Leg	muscle
14	chr5:59982800-59991000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:59982800-59992400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr5:59982800-59993800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr5:59982800-59994800	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr5:59982800-59994800	Weak transcription	Primary hematopoietic stem cells	blood
19	chr5:59983000-59990800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr5:59983000-59991000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:59983000-59991000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr5:59983000-59991200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr5:59983000-59992800	Weak transcription	NHEK	skin
24	chr5:59983000-59994000	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr5:59983000-59994000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr5:59983000-59994000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr5:59983000-59994200	Weak transcription	Thymus	Thymus
28	chr5:59983000-59994600	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr5:59983000-59994800	Weak transcription	Fetal Thymus	thymus
30	chr5:59983000-59994800	Weak transcription	HSMM	muscle
31	chr5:59983200-59991000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr5:59983200-59993800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr5:59983200-59993800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr5:59983800-59991000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr5:59984200-59993000	Weak transcription	NHDF-Ad	bronchial
36	chr5:59984400-59991000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr5:59984400-59991200	Weak transcription	Dnd41	blood
38	chr5:59984600-59991000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr5:59984600-59991200	Weak transcription	A549	lung
40	chr5:59984600-59993000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr5:59984600-59994000	Weak transcription	Fetal Heart	heart
42	chr5:59984600-59994800	Weak transcription	Fetal Intestine Small	intestine
43	chr5:59985000-59991000	Weak transcription	K562	blood
44	chr5:59985200-59991200	Weak transcription	Placenta	Placenta
45	chr5:59986800-59992400	Weak transcription	HepG2	liver
46	chr5:59986800-59994000	Weak transcription	Osteobl	bone
47	chr5:59988600-59990800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr5:59990000-59990600	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr5:59990000-59991400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr5:59990200-59990600	Strong transcription	HUES6 Cell Line	embryonic stem cell

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