Variant report

Variant	rs148949728
Chromosome Location	chr6:13710861-13710862
allele	C/G/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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:13686589..13691071-chr6:13710597..13713720,6	K562	blood:
2	chr6:13693992..13697221-chr6:13708052..13711450,4	MCF-7	breast:
3	chr6:13612439..13617063-chr6:13710643..13713872,7	MCF-7	breast:
4	chr20:52207726..52210399-chr6:13710282..13712059,2	MCF-7	breast:
5	chr6:13710342..13712818-chr6:13812780..13815719,5	MCF-7	breast:
6	chr6:13614699..13617561-chr6:13709091..13711780,4	K562	blood:
7	chr12:120729387..120731467-chr6:13710748..13713061,2	MCF-7	breast:
8	chr6:13612229..13617961-chr6:13707977..13713490,13	K562	blood:
9	chr6:13658437..13687167-chr6:13707669..13717356,51	K562	blood:
10	chr6:13709976..13711553-chr6:13927629..13929314,2	K562	blood:
11	chr6:13613655..13618769-chr6:13709987..13714197,10	MCF-7	breast:
12	chr6:13617821..13621321-chr6:13710420..13713075,4	MCF-7	breast:
13	chr6:13708644..13711231-chr6:13725404..13728369,2	MCF-7	breast:
14	chr6:13710378..13713685-chr6:13811318..13818372,10	MCF-7	breast:
15	chr6:13573088..13576408-chr6:13709684..13713261,5	MCF-7	breast:
16	chr6:13677099..13683232-chr6:13708060..13717356,16	K562	blood:
17	chr6:13709898..13716469-chr6:13809605..13815390,11	K562	blood:
18	chr6:13622436..13626191-chr6:13709343..13710896,3	MCF-7	breast:
19	chr6:13709180..13711346-chr6:13748114..13750460,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000171940	Chromatin interaction
ENSG00000050393	Chromatin interaction
ENSG00000252966	Chromatin interaction
ENSG00000261071	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000233075	Chromatin interaction
ENSG00000268059	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000010017	Chromatin interaction
ENSG00000124523	Chromatin interaction
ENSG00000225921	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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	nsv532021	chr6:13232627-13805381	Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv883451	chr6:13704341-13728670	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
3	nsv883452	chr6:13704341-13733565	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
4	esv3404065	chr6:13709573-13714171	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
5	esv3327130	chr6:13710198-13712746	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
6	esv3387564	chr6:13710598-13713146	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
7	esv3361820	chr6:13710773-13713121	Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13707600-13712600	Active TSS	GM12878-XiMat	blood
2	chr6:13707800-13713000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr6:13708200-13711000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr6:13708400-13711000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr6:13708400-13711000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr6:13708400-13711200	Flanking Active TSS	Primary hematopoietic stem cells	blood
7	chr6:13708400-13713000	Active TSS	HSMMtube	muscle
8	chr6:13708400-13713200	Active TSS	NHLF	lung
9	chr6:13708600-13711000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
10	chr6:13708600-13711000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr6:13708600-13711000	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr6:13708600-13711000	Active TSS	Right Atrium	heart
13	chr6:13708600-13712800	Active TSS	Esophagus	oesophagus
14	chr6:13708600-13712800	Active TSS	Stomach Smooth Muscle	stomach
15	chr6:13708600-13713000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr6:13708600-13713000	Active TSS	Brain Anterior Caudate	brain
17	chr6:13708600-13713000	Active TSS	Colonic Mucosa	Colon
18	chr6:13708600-13713200	Active TSS	Brain Angular Gyrus	brain
19	chr6:13708800-13711200	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr6:13708800-13712200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr6:13708800-13712400	Active TSS	Thymus	Thymus
22	chr6:13708800-13712800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr6:13708800-13712800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr6:13708800-13712800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr6:13708800-13712800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr6:13708800-13712800	Active TSS	Fetal Kidney	kidney
27	chr6:13708800-13713000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr6:13708800-13713000	Active TSS	Fetal Intestine Large	intestine
29	chr6:13708800-13713000	Active TSS	Fetal Stomach	stomach
30	chr6:13708800-13713200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr6:13708800-13713200	Active TSS	Ovary	ovary
32	chr6:13709000-13711000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
33	chr6:13709000-13711400	Active TSS	Primary T killer memory cells from peripheral blood	blood
34	chr6:13709000-13712800	Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr6:13709000-13713000	Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr6:13709000-13713000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr6:13709000-13713000	Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr6:13709000-13713000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr6:13709000-13713000	Active TSS	Placenta	Placenta
40	chr6:13709000-13713000	Active TSS	Rectal Mucosa Donor 29	rectum
41	chr6:13709000-13713200	Active TSS	H9 Cell Line	embryonic stem cell
42	chr6:13709000-13713200	Active TSS	Fetal Intestine Small	intestine
43	chr6:13709000-13713200	Active TSS	Psoas Muscle	Psoas
44	chr6:13709200-13711000	Active TSS	Fetal Heart	heart
45	chr6:13709200-13711400	Active TSS	NHDF-Ad	bronchial
46	chr6:13709200-13712200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr6:13709200-13712200	Active TSS	Brain Germinal Matrix	brain
48	chr6:13709200-13712400	Active TSS	Duodenum Smooth Muscle	Duodenum
49	chr6:13709200-13712400	Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr6:13709200-13712400	Active TSS	HMEC	breast

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