Variant report

Variant	rs552562254
Chromosome Location	chr19:36241529-36241530
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:36241004-36241552	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:36241397..36243001-chr19:36264717..36266328,2	MCF-7	breast:
2	chr19:36220754..36223608-chr19:36241225..36243043,2	MCF-7	breast:
3	chr19:36238866..36244880-chr19:36246037..36252437,21	MCF-7	breast:

Variant related genes	Relation type
ENSG00000267328	TF binding region
LIN37	TF binding region
ENSG00000267439	TF binding region
ENSG00000004777	Chromatin interaction
ENSG00000004776	Chromatin interaction
ENSG00000167595	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv911630	chr19:36149761-36290977	Enhancers Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	69 gene(s)	inside rSNPs	diseases
3	nsv458566	chr19:36156588-36265508	Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
4	nsv579422	chr19:36156588-36265508	Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
5	nsv911631	chr19:36169285-36290977	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
6	nsv911632	chr19:36174176-36288297	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
7	nsv911633	chr19:36206050-36283847	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
8	nsv911634	chr19:36206050-36290977	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
9	nsv543996	chr19:36210269-36265431	Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
10	nsv1057830	chr19:36210269-36279794	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
11	nsv543997	chr19:36210269-36279794	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
12	nsv911635	chr19:36217333-36283847	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
13	nsv458567	chr19:36221051-36283847	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
14	nsv579423	chr19:36221051-36283847	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
15	nsv911636	chr19:36240960-36290977	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 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	chr19:36240000-36246200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr19:36240200-36241600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr19:36240200-36242000	Enhancers	Primary T cells fromperipheralblood	blood
4	chr19:36240200-36242800	Weak transcription	Aorta	Aorta
5	chr19:36240200-36243400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr19:36240200-36243800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr19:36240200-36244600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr19:36240200-36246200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr19:36240400-36241600	Enhancers	Adipose Nuclei	Adipose
10	chr19:36240400-36241600	Enhancers	Fetal Brain Male	brain
11	chr19:36240400-36241600	Enhancers	Spleen	Spleen
12	chr19:36240400-36242000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr19:36240400-36242400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr19:36240400-36242800	Weak transcription	Primary T cells from cord blood	blood
15	chr19:36240400-36243000	Weak transcription	Thymus	Thymus
16	chr19:36240400-36243200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr19:36240400-36243200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr19:36240400-36243200	Weak transcription	Brain Substantia Nigra	brain
19	chr19:36240400-36243200	Weak transcription	Ovary	ovary
20	chr19:36240400-36243200	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr19:36240400-36243200	Weak transcription	Stomach Mucosa	stomach
22	chr19:36240400-36243600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr19:36240400-36243600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr19:36240400-36244200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr19:36240400-36244200	Weak transcription	Fetal Kidney	kidney
26	chr19:36240400-36245000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr19:36240400-36246200	Weak transcription	NH-A	brain
28	chr19:36240400-36246400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr19:36240400-36247200	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr19:36240600-36242600	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr19:36240600-36242600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr19:36240600-36242800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr19:36240600-36243000	Weak transcription	Colonic Mucosa	Colon
34	chr19:36240600-36243400	Weak transcription	Fetal Thymus	thymus
35	chr19:36240800-36242200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr19:36241000-36241600	Genic enhancers	Stomach Smooth Muscle	stomach
37	chr19:36241000-36242400	Weak transcription	Fetal Intestine Large	intestine
38	chr19:36241000-36242400	Weak transcription	A549	lung
39	chr19:36241000-36242400	Weak transcription	Osteobl	bone
40	chr19:36241000-36242600	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr19:36241000-36242800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr19:36241000-36242800	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr19:36241000-36243000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr19:36241000-36243000	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr19:36241000-36243000	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr19:36241000-36243000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr19:36241000-36243000	Weak transcription	Brain Hippocampus Middle	brain
48	chr19:36241000-36243000	Weak transcription	Right Ventricle	heart
49	chr19:36241000-36243000	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr19:36241000-36243200	Weak transcription	HSMMtube	muscle

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