Variant report

Variant	rs532431440
Chromosome Location	chr6:34494051-34494052
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:34193853..34195785-chr6:34492922..34495154,2	K562	blood:
2	chr6:34491195..34497458-chr6:34528901..34533837,5	K562	blood:
3	chr6:34494049..34496847-chr6:34497897..34503319,6	K562	blood:
4	chr6:34480102..34483166-chr6:34493351..34495807,3	MCF-7	breast:
5	chr6:34493240..34495795-chr6:34548549..34550240,2	K562	blood:
6	chr6:34486477..34488245-chr6:34492452..34495163,2	MCF-7	breast:
7	chr6:34214520..34216995-chr6:34493716..34495769,3	K562	blood:
8	chr6:34493632..34501782-chr6:34512451..34525873,25	MCF-7	breast:
9	chr6:34494038..34495878-chr6:34511727..34514586,2	K562	blood:
10	chr6:34492976..34496422-chr6:34570016..34572960,3	MCF-7	breast:
11	chr6:34484087..34487534-chr6:34488647..34495126,10	K562	blood:

No data

Variant related genes	Relation type
ENSG00000186577	Chromatin interaction
ENSG00000124664	Chromatin interaction
ENSG00000124507	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022844	chr6:34317219-35060519	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription 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	67 gene(s)	inside rSNPs	diseases
2	nsv538195	chr6:34317219-35060519	Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv2758046	chr6:34382492-34714677	Genic enhancers Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS 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	37 gene(s)	inside rSNPs	diseases
4	esv2759418	chr6:34382492-34714677	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv885785	chr6:34404636-34874002	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv885786	chr6:34426884-34542662	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
7	esv1813536	chr6:34455242-34545123	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
8	nsv885787	chr6:34458533-34546560	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
9	nsv885788	chr6:34464010-34551912	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
10	nsv1033583	chr6:34471572-34828372	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
11	nsv885789	chr6:34474939-34546560	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
12	nsv1033325	chr6:34482287-34517857	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
13	nsv885790	chr6:34483015-34542662	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
14	nsv885791	chr6:34483015-34546560	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
15	nsv516578	chr6:34483015-34561585	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
16	nsv1022555	chr6:34488209-34517003	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
17	esv1801907	chr6:34492567-34545860	Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34483400-34494200	Weak transcription	Spleen	Spleen
2	chr6:34486800-34494200	Weak transcription	Brain Angular Gyrus	brain
3	chr6:34489000-34495600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr6:34490200-34494200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr6:34490200-34494200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr6:34490400-34494400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr6:34490800-34494200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr6:34491200-34494200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr6:34491600-34495200	Enhancers	Fetal Stomach	stomach
10	chr6:34492000-34494200	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr6:34492200-34494200	Enhancers	K562	blood
12	chr6:34492600-34494800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr6:34492800-34494600	Weak transcription	Fetal Kidney	kidney
14	chr6:34493000-34494200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr6:34493000-34494600	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr6:34493200-34494400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr6:34493200-34494600	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr6:34493200-34495200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr6:34493200-34495200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr6:34493400-34494200	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr6:34493600-34494400	Enhancers	Brain Cingulate Gyrus	brain
22	chr6:34493600-34495200	Enhancers	Fetal Heart	heart
23	chr6:34493800-34494200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr6:34493800-34494600	Enhancers	Fetal Lung	lung
25	chr6:34494000-34494200	Enhancers	Adipose Nuclei	Adipose
26	chr6:34494000-34494200	Active TSS	Colon Smooth Muscle	Colon
27	chr6:34494000-34494200	Enhancers	Right Atrium	heart
28	chr6:34494000-34494200	Bivalent Enhancer	HepG2	liver
29	chr6:34494000-34494400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr6:34494000-34494400	Enhancers	Brain Anterior Caudate	brain
31	chr6:34494000-34494400	Enhancers	Stomach Smooth Muscle	stomach
32	chr6:34494000-34494800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr6:34494000-34495000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr6:34494000-34495200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr6:34494000-34495200	Enhancers	Colonic Mucosa	Colon
36	chr6:34494000-34495400	Active TSS	Rectal Smooth Muscle	rectum
37	chr6:34494000-34495600	Enhancers	Primary B cells from cord blood	blood
38	chr6:34494000-34495600	Enhancers	Primary B cells from peripheral blood	blood
39	chr6:34494000-34495600	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr6:34494000-34495800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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