Variant report

Variant	rs184884909
Chromosome Location	chr1:197157787-197157788
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:197149643..197151239-chr1:197155881..197158669,2	K562	blood:
2	chr1:197153871..197156046-chr1:197157510..197159147,2	K562	blood:
3	chr1:197157362..197159719-chr1:197168800..197171686,3	K562	blood:
4	chr1:197155834..197158603-chr1:197158660..197160759,2	K562	blood:

Variant related genes	Relation type
ENSG00000177888	Chromatin interaction
ENSG00000134376	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528460	chr1:196542567-197446702	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2758990	chr1:196590837-197169772	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv427897	chr1:196590837-197169772	Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	esv2757767	chr1:196977799-197169772	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv873070	chr1:197079671-197165014	Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv873071	chr1:197079671-197187605	Active TSS Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv873072	chr1:197079671-197221248	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
8	nsv548871	chr1:197106604-197168233	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers 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	6 gene(s)	inside rSNPs	diseases
9	nsv873073	chr1:197107074-197221248	Flanking Active TSS Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
10	nsv947366	chr1:197157398-197163669	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197116600-197169800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:197125400-197168400	Weak transcription	Psoas Muscle	Psoas
3	chr1:197125600-197160000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:197125600-197169600	Weak transcription	Esophagus	oesophagus
5	chr1:197125800-197158400	Weak transcription	Spleen	Spleen
6	chr1:197126400-197169600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:197128200-197161000	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr1:197135200-197161800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:197136000-197161600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr1:197141400-197166200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr1:197142000-197159600	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr1:197142200-197159800	Strong transcription	Fetal Thymus	thymus
13	chr1:197143200-197165800	Weak transcription	Small Intestine	intestine
14	chr1:197144400-197158200	Weak transcription	Fetal Intestine Small	intestine
15	chr1:197147600-197161000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr1:197148400-197160800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:197148400-197161200	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr1:197148600-197159600	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr1:197148800-197161000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:197149800-197165400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr1:197151200-197160200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr1:197152000-197161000	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr1:197152400-197161000	Strong transcription	Dnd41	blood
24	chr1:197152400-197168600	Weak transcription	Stomach Mucosa	stomach
25	chr1:197152600-197158400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:197152800-197161600	Strong transcription	HSMM	muscle
27	chr1:197153200-197165000	Weak transcription	Fetal Heart	heart
28	chr1:197153400-197161000	Strong transcription	Primary B cells from cord blood	blood
29	chr1:197153400-197161000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:197154000-197157800	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr1:197154000-197160200	Strong transcription	Osteobl	bone
32	chr1:197154200-197157800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:197154200-197158000	Strong transcription	Muscle Satellite Cultured Cells	--
34	chr1:197154200-197159600	Strong transcription	Primary T cells from cord blood	blood
35	chr1:197154200-197159600	Strong transcription	Duodenum Mucosa	Duodenum
36	chr1:197154200-197160800	Strong transcription	Fetal Lung	lung
37	chr1:197154200-197161000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr1:197154200-197161000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr1:197154200-197161000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr1:197154200-197161000	Strong transcription	Liver	Liver
41	chr1:197154200-197161000	Strong transcription	Placenta	Placenta
42	chr1:197154200-197161400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr1:197154400-197158200	Strong transcription	Primary T killer memory cells from peripheral blood	blood
44	chr1:197154400-197159200	Strong transcription	Placenta Amnion	Placenta Amnion
45	chr1:197154400-197159600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr1:197154400-197159600	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr1:197154400-197159600	Strong transcription	Adipose Nuclei	Adipose
48	chr1:197154400-197159800	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr1:197154400-197160000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr1:197154400-197160200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood

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