Variant report

Variant	rs553252414
Chromosome Location	chr6:44243721-44243722
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:44241706..44244542-chr6:44247221..44249116,2	K562	blood:
2	chr6:44235774..44239606-chr6:44242951..44245858,3	MCF-7	breast:
3	chr6:44242284..44246953-chr6:44248645..44251734,5	K562	blood:
4	chr6:44242956..44244489-chr6:44249493..44251031,2	K562	blood:
5	chr6:44243596..44246439-chr6:44318248..44320876,2	K562	blood:

Variant related genes	Relation type
ENSG00000178233	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv603003	chr6:44191920-44253765	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
3	nsv462936	chr6:44191920-44282316	Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription 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 miRNA target site	101 gene(s)	inside rSNPs	diseases
4	nsv603004	chr6:44191920-44282316	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
5	nsv885853	chr6:44197181-44274797	Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
6	nsv524398	chr6:44200953-44253765	Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
7	nsv885854	chr6:44211867-44274797	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
8	nsv462937	chr6:44211867-44279111	Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
9	nsv603005	chr6:44211867-44279111	Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
10	nsv885857	chr6:44223010-44250165	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	diseases
11	esv3422155	chr6:44242599-44245147	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44239600-44244600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr6:44239600-44247600	Enhancers	Fetal Brain Male	brain
3	chr6:44240800-44245000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:44241000-44244200	Strong transcription	Brain Germinal Matrix	brain
5	chr6:44241200-44252200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr6:44242400-44244000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr6:44242400-44245200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr6:44243000-44244000	Bivalent/Poised TSS	NHEK	skin
9	chr6:44243000-44244400	Enhancers	Lung	lung
10	chr6:44243000-44244400	Bivalent Enhancer	Spleen	Spleen
11	chr6:44243200-44243800	Bivalent Enhancer	Primary B cells from cord blood	blood
12	chr6:44243200-44243800	Genic enhancers	Fetal Brain Female	brain
13	chr6:44243200-44244200	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr6:44243200-44244200	Enhancers	Primary hematopoietic stem cells	blood
15	chr6:44243200-44244200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr6:44243200-44244400	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr6:44243200-44244400	Enhancers	Fetal Heart	heart
18	chr6:44243200-44244400	Flanking Bivalent TSS/Enh	HepG2	liver
19	chr6:44243200-44244600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
20	chr6:44243200-44244600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
21	chr6:44243200-44244600	Bivalent Enhancer	Placenta	Placenta
22	chr6:44243200-44244600	Bivalent Enhancer	Stomach Mucosa	stomach
23	chr6:44243200-44244800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
24	chr6:44243400-44243800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr6:44243400-44243800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
26	chr6:44243400-44243800	Bivalent/Poised TSS	HSMMtube	muscle
27	chr6:44243400-44243800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
28	chr6:44243400-44244000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
29	chr6:44243400-44244000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr6:44243400-44244200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr6:44243400-44244200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
32	chr6:44243400-44244200	Bivalent/Poised TSS	Primary T helper memory cells from peripheral blood 2	blood
33	chr6:44243400-44244200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
34	chr6:44243400-44244200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr6:44243400-44244200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr6:44243400-44244200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr6:44243400-44244200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr6:44243400-44244200	Enhancers	Liver	Liver
39	chr6:44243400-44244200	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
40	chr6:44243400-44244200	Flanking Active TSS	Gastric	stomach
41	chr6:44243400-44244200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
42	chr6:44243400-44244200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
43	chr6:44243400-44244400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
44	chr6:44243400-44244400	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
45	chr6:44243400-44244400	Flanking Bivalent TSS/Enh	Right Ventricle	heart
46	chr6:44243400-44244400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
47	chr6:44243400-44244600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr6:44243600-44243800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
49	chr6:44243600-44243800	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr6:44243600-44243800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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