Variant report

Variant	rs16833146
Chromosome Location	chr2:191848286-191848287
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:191847321..191849871-chr2:191858220..191860388,2	MCF-7	breast:
2	chr2:191843633..191849019-chr2:191876813..191881273,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000229023	Chromatin interaction
ENSG00000115415	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs16832940	1.00[EUR][1000 genomes]
rs3024845	1.00[CEU][hapmap]
rs3024863	1.00[EUR][1000 genomes]
rs3024881	1.00[EUR][1000 genomes]
rs41363648	1.00[EUR][1000 genomes]
rs41381545	1.00[EUR][1000 genomes]
rs41383548	1.00[EUR][1000 genomes]
rs41390345	1.00[EUR][1000 genomes]
rs41429347	1.00[EUR][1000 genomes]
rs41446247	1.00[EUR][1000 genomes]
rs41457850	1.00[EUR][1000 genomes]
rs41463952	1.00[EUR][1000 genomes]
rs41508653	1.00[EUR][1000 genomes]
rs45581732	1.00[EUR][1000 genomes]
rs45582434	1.00[EUR][1000 genomes]
rs45625838	1.00[EUR][1000 genomes]
rs56722217	1.00[EUR][1000 genomes]
rs57478729	1.00[EUR][1000 genomes]
rs58224506	1.00[EUR][1000 genomes]
rs58801716	1.00[EUR][1000 genomes]
rs60491063	1.00[EUR][1000 genomes]
rs61276563	1.00[EUR][1000 genomes]
rs6712504	1.00[EUR][1000 genomes]
rs6721631	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv584065	chr2:191644537-191875901	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv999391	chr2:191749035-191921931	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv834493	chr2:191811373-191974240	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv998232	chr2:191841497-192020361	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 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	chr2:191824200-191877200	Strong transcription	HSMM	muscle
2	chr2:191824600-191865400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
3	chr2:191825400-191874200	Strong transcription	Muscle Satellite Cultured Cells	--
4	chr2:191825600-191861800	Strong transcription	Duodenum Smooth Muscle	Duodenum
5	chr2:191826000-191849400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:191826200-191858200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:191826400-191875600	Strong transcription	Duodenum Mucosa	Duodenum
8	chr2:191826600-191850400	Strong transcription	Dnd41	blood
9	chr2:191826600-191850600	Strong transcription	Liver	Liver
10	chr2:191826600-191860400	Strong transcription	GM12878-XiMat	blood
11	chr2:191826600-191873000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr2:191826800-191868800	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr2:191826800-191874600	Strong transcription	NHDF-Ad	bronchial
14	chr2:191827600-191873600	Strong transcription	Brain Hippocampus Middle	brain
15	chr2:191828200-191872000	Strong transcription	Cortex derived primary cultured neurospheres	brain
16	chr2:191828800-191867000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:191828800-191875200	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr2:191829000-191868200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:191829200-191876000	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr2:191829200-191878200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr2:191829400-191868000	Strong transcription	Primary B cells from cord blood	blood
22	chr2:191829400-191870800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr2:191829400-191875800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr2:191829600-191875600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr2:191829800-191850800	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr2:191831000-191873800	Strong transcription	HepG2	liver
27	chr2:191832600-191876200	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr2:191833000-191856400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr2:191833000-191862000	Strong transcription	Rectal Smooth Muscle	rectum
30	chr2:191833000-191874200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr2:191833400-191856600	Strong transcription	H1 Cell Line	embryonic stem cell
32	chr2:191833800-191865600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:191834200-191856400	Strong transcription	Brain Inferior Temporal Lobe	brain
34	chr2:191834200-191861400	Strong transcription	Stomach Smooth Muscle	stomach
35	chr2:191834600-191856200	Strong transcription	Brain Angular Gyrus	brain
36	chr2:191834600-191861600	Strong transcription	Colon Smooth Muscle	Colon
37	chr2:191834800-191856400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr2:191835000-191851800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr2:191835000-191853000	Strong transcription	H9 Cell Line	embryonic stem cell
40	chr2:191835400-191855000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr2:191836000-191861600	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr2:191836000-191868400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr2:191836200-191861400	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr2:191836200-191861400	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr2:191838600-191856400	Strong transcription	Brain Anterior Caudate	brain
46	chr2:191839600-191854800	Strong transcription	HSMMtube	muscle
47	chr2:191839600-191875600	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr2:191840000-191849400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr2:191840000-191849400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr2:191840400-191849400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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