Variant report

Variant	rs539232532
Chromosome Location	chr6:43733915-43733916
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:43732418..43734383-chr6:44067605..44069368,2	K562	blood:
2	chr6:43730164..43744120-chr6:44034600..44052665,50	K562	blood:
3	chr6:43700705..43714068-chr6:43733889..43742277,18	K562	blood:
4	chr6:43730421..43734322-chr6:43919726..43923267,3	K562	blood:
5	chr6:43692844..43694589-chr6:43732603..43735639,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000236961	Chromatin interaction
ENSG00000231881	Chromatin interaction
ENSG00000237686	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	nsv869383	chr6:43505094-43752189	Genic enhancers Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases
3	nsv1018626	chr6:43694649-43803732	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
4	nsv885848	chr6:43732669-43753051	Genic enhancers Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:43709000-43737000	Weak transcription	Right Atrium	heart
2	chr6:43722000-43737400	Weak transcription	Fetal Kidney	kidney
3	chr6:43727600-43737200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr6:43729200-43734600	Enhancers	Fetal Stomach	stomach
5	chr6:43729200-43737200	Weak transcription	Spleen	Spleen
6	chr6:43729800-43737400	Enhancers	Fetal Intestine Small	intestine
7	chr6:43730000-43737400	Enhancers	Fetal Intestine Large	intestine
8	chr6:43730800-43734000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr6:43731400-43737400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr6:43731400-43737400	Enhancers	Stomach Mucosa	stomach
11	chr6:43731600-43735400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr6:43731800-43735800	Weak transcription	Ovary	ovary
13	chr6:43732000-43735800	Weak transcription	Osteobl	bone
14	chr6:43732000-43737400	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr6:43732600-43735200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr6:43732600-43735400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr6:43732600-43736600	Weak transcription	K562	blood
18	chr6:43733000-43734200	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr6:43733000-43737200	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr6:43733400-43734200	Weak transcription	Fetal Lung	lung
21	chr6:43733400-43734200	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr6:43733400-43735800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr6:43733400-43737400	Enhancers	Duodenum Mucosa	Duodenum
24	chr6:43733400-43737400	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr6:43733600-43734200	Enhancers	Hela-S3	cervix
26	chr6:43733600-43735400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr6:43733800-43734000	Enhancers	Small Intestine	intestine
28	chr6:43733800-43734000	Flanking Bivalent TSS/Enh	HepG2	liver
29	chr6:43733800-43734200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr6:43733800-43734400	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr6:43733800-43734800	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr6:43733800-43735000	Weak transcription	Gastric	stomach
33	chr6:43733800-43735200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
34	chr6:43733800-43736000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr6:43733800-43736400	Enhancers	Pancreas	Pancrea
36	chr6:43733800-43737000	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr6:43733800-43737200	Enhancers	Liver	Liver

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