Variant report

Variant	rs41363648
Chromosome Location	chr2:191834487-191834488
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:191745363..191747195-chr2:191833040..191834954,2	MCF-7	breast:
2	chr2:191834299..191836793-chr2:191838223..191839851,2	K562	blood:
3	chr2:191834111..191835722-chr2:191877361..191880131,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235852	Chromatin interaction
ENSG00000115419	Chromatin interaction
ENSG00000115415	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16832940	1.00[EUR][1000 genomes]
rs16833146	1.00[EUR][1000 genomes]
rs3024863	1.00[EUR][1000 genomes]
rs3024881	1.00[EUR][1000 genomes]
rs41381545	0.91[AFR][1000 genomes];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	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41463952	1.00[EUR][1000 genomes]
rs41508653	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs45581732	1.00[EUR][1000 genomes]
rs45582434	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];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	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6721631	1.00[EUR][1000 genomes]
rs73043470	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191810400-191835600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:191812600-191835200	Weak transcription	Gastric	stomach
3	chr2:191813800-191834800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:191818400-191835000	Weak transcription	Ovary	ovary
5	chr2:191823800-191835200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr2:191824200-191877200	Strong transcription	HSMM	muscle
7	chr2:191824600-191865400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr2:191824800-191835400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr2:191825000-191834600	Weak transcription	Fetal Kidney	kidney
10	chr2:191825000-191835600	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr2:191825400-191874200	Strong transcription	Muscle Satellite Cultured Cells	--
12	chr2:191825600-191834800	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr2:191825600-191861800	Strong transcription	Duodenum Smooth Muscle	Duodenum
14	chr2:191825800-191843400	Strong transcription	Fetal Thymus	thymus
15	chr2:191825800-191844800	Strong transcription	Rectal Mucosa Donor 31	rectum
16	chr2:191826000-191835600	Weak transcription	Esophagus	oesophagus
17	chr2:191826000-191844600	Strong transcription	Fetal Muscle Leg	muscle
18	chr2:191826000-191849400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:191826200-191835000	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr2:191826200-191845000	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr2:191826200-191847000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr2:191826200-191858200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr2:191826400-191835400	Strong transcription	Adipose Nuclei	Adipose
24	chr2:191826400-191838800	Strong transcription	Skeletal Muscle Female	skeletal muscle
25	chr2:191826400-191875600	Strong transcription	Duodenum Mucosa	Duodenum
26	chr2:191826600-191835400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr2:191826600-191835400	Weak transcription	Brain Germinal Matrix	brain
28	chr2:191826600-191837200	Strong transcription	Placenta	Placenta
29	chr2:191826600-191842400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:191826600-191844800	Strong transcription	Primary T cells from cord blood	blood
31	chr2:191826600-191845200	Strong transcription	A549	lung
32	chr2:191826600-191847400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr2:191826600-191847600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:191826600-191850400	Strong transcription	Dnd41	blood
35	chr2:191826600-191850600	Strong transcription	Liver	Liver
36	chr2:191826600-191860400	Strong transcription	GM12878-XiMat	blood
37	chr2:191826600-191873000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr2:191826800-191835200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr2:191826800-191843400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr2:191826800-191868800	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr2:191826800-191874600	Strong transcription	NHDF-Ad	bronchial
42	chr2:191827000-191835000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr2:191827200-191837600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:191827400-191837000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr2:191827400-191837600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr2:191827400-191843000	Strong transcription	HMEC	breast
47	chr2:191827400-191843000	Strong transcription	Osteobl	bone
48	chr2:191827600-191873600	Strong transcription	Brain Hippocampus Middle	brain
49	chr2:191828000-191835200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr2:191828200-191872000	Strong transcription	Cortex derived primary cultured neurospheres	brain

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