Variant report

Variant	rs240307
Chromosome Location	chr6:80657232-80657233
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:80656144..80658220-chr6:80712686..80714230,2	K562	blood:
2	chr1:149858428..149860800-chr6:80655814..80658112,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000178096	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000112742	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs239533	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs239534	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs240309	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs240310	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs240311	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7757908	0.96[EUR][1000 genomes]

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	nsv1028607	chr6:79853272-80767716	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1032347	chr6:80284809-80694778	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	esv3475140	chr6:80592690-80679283	Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	esv3475142	chr6:80592789-80679132	Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv934076	chr6:80656862-80657630	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv933415	chr6:80657182-80657630	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv933704	chr6:80657182-80674202	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80654400-80657600	Active TSS	Brain Anterior Caudate	brain
2	chr6:80654600-80657400	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr6:80654800-80657800	Active TSS	Brain Angular Gyrus	brain
4	chr6:80655600-80657400	Active TSS	Right Atrium	heart
5	chr6:80655600-80657400	Active TSS	NHDF-Ad	bronchial
6	chr6:80655600-80657600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:80655600-80659400	Active TSS	Thymus	Thymus
8	chr6:80655800-80657400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr6:80655800-80657400	Active TSS	NHLF	lung
10	chr6:80655800-80657600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr6:80655800-80657600	Active TSS	Brain Hippocampus Middle	brain
12	chr6:80655800-80657600	Active TSS	Fetal Brain Male	brain
13	chr6:80655800-80657800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr6:80655800-80657800	Active TSS	Stomach Smooth Muscle	stomach
15	chr6:80655800-80658000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr6:80656000-80657400	Active TSS	H1 Cell Line	embryonic stem cell
17	chr6:80656000-80657400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr6:80656000-80657400	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr6:80656000-80657400	Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr6:80656000-80657400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
21	chr6:80656000-80657400	Active TSS	Brain Cingulate Gyrus	brain
22	chr6:80656000-80657400	Active TSS	Dnd41	blood
23	chr6:80656000-80657600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:80656000-80657600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr6:80656000-80657600	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr6:80656000-80657600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr6:80656000-80657600	Active TSS	HSMM	muscle
28	chr6:80656000-80657800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr6:80656000-80657800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr6:80656000-80657800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr6:80656000-80657800	Active TSS	Aorta	Aorta
32	chr6:80656000-80657800	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr6:80656000-80658000	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr6:80656200-80657400	Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr6:80656200-80657400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr6:80656200-80657400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
37	chr6:80656200-80657400	Active TSS	Rectal Smooth Muscle	rectum
38	chr6:80656200-80657400	Active TSS	HMEC	breast
39	chr6:80656200-80657400	Active TSS	HSMMtube	muscle
40	chr6:80656200-80657600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr6:80656200-80657600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr6:80656200-80657600	Active TSS	H9 Cell Line	embryonic stem cell
43	chr6:80656200-80657600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr6:80656200-80657600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
45	chr6:80656200-80657600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr6:80656200-80657600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
47	chr6:80656200-80657600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
48	chr6:80656200-80657600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
49	chr6:80656200-80657600	Active TSS	Colon Smooth Muscle	Colon
50	chr6:80656200-80657600	Active TSS	Esophagus	oesophagus

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