Variant report

Variant	rs541167509
Chromosome Location	chr6:44243578-44243579
allele	A/G
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:

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:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44239000-44243600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr6:44239000-44243600	Weak transcription	Right Atrium	heart
3	chr6:44239400-44243600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr6:44239600-44244600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr6:44239600-44247600	Enhancers	Fetal Brain Male	brain
6	chr6:44240400-44243600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr6:44240800-44243600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:44240800-44245000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr6:44241000-44243600	Strong transcription	H1 Cell Line	embryonic stem cell
10	chr6:44241000-44244200	Strong transcription	Brain Germinal Matrix	brain
11	chr6:44241200-44252200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr6:44242400-44244000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr6:44242400-44245200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr6:44243000-44244000	Bivalent/Poised TSS	NHEK	skin
15	chr6:44243000-44244400	Enhancers	Lung	lung
16	chr6:44243000-44244400	Bivalent Enhancer	Spleen	Spleen
17	chr6:44243200-44243600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr6:44243200-44243600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
19	chr6:44243200-44243600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr6:44243200-44243600	Bivalent Enhancer	Esophagus	oesophagus
21	chr6:44243200-44243600	Enhancers	Ovary	ovary
22	chr6:44243200-44243600	Enhancers	Pancreas	Pancrea
23	chr6:44243200-44243800	Bivalent Enhancer	Primary B cells from cord blood	blood
24	chr6:44243200-44243800	Genic enhancers	Fetal Brain Female	brain
25	chr6:44243200-44244200	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr6:44243200-44244200	Enhancers	Primary hematopoietic stem cells	blood
27	chr6:44243200-44244200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr6:44243200-44244400	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr6:44243200-44244400	Enhancers	Fetal Heart	heart
30	chr6:44243200-44244400	Flanking Bivalent TSS/Enh	HepG2	liver
31	chr6:44243200-44244600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
32	chr6:44243200-44244600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
33	chr6:44243200-44244600	Bivalent Enhancer	Placenta	Placenta
34	chr6:44243200-44244600	Bivalent Enhancer	Stomach Mucosa	stomach
35	chr6:44243200-44244800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
36	chr6:44243400-44243600	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
37	chr6:44243400-44243600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr6:44243400-44243600	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
39	chr6:44243400-44243600	Bivalent Enhancer	Adipose Nuclei	Adipose
40	chr6:44243400-44243600	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
41	chr6:44243400-44243600	Bivalent Enhancer	Fetal Muscle Leg	muscle
42	chr6:44243400-44243600	Bivalent Enhancer	Psoas Muscle	Psoas
43	chr6:44243400-44243600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
44	chr6:44243400-44243600	Bivalent Enhancer	HMEC	breast
45	chr6:44243400-44243800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr6:44243400-44243800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
47	chr6:44243400-44243800	Bivalent/Poised TSS	HSMMtube	muscle
48	chr6:44243400-44243800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
49	chr6:44243400-44244000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
50	chr6:44243400-44244000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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