Variant report

Variant	rs41468049
Chromosome Location	chr2:148609077-148609078
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:148600808..148605763-chr2:148607218..148610138,5	K562	blood:
2	chr2:148600808..148604686-chr2:148606929..148611587,8	K562	blood:
3	chr2:148600576..148604642-chr2:148604674..148611198,12	MCF-7	breast:
4	chr2:148607856..148609692-chr2:148658540..148660891,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000121989	Chromatin interaction
ENSG00000223911	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10187392	1.00[EUR][1000 genomes]
rs10928370	1.00[EUR][1000 genomes]
rs12620026	1.00[EUR][1000 genomes]
rs13394568	1.00[EUR][1000 genomes]
rs13411618	1.00[EUR][1000 genomes]
rs1364659	1.00[EUR][1000 genomes]
rs1469212	1.00[EUR][1000 genomes]
rs16828024	1.00[EUR][1000 genomes]
rs16828025	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16828096	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16828177	1.00[EUR][1000 genomes]
rs16828185	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16828243	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17218917	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2627023	1.00[EUR][1000 genomes]
rs2627027	1.00[EUR][1000 genomes]
rs2707220	1.00[EUR][1000 genomes]
rs4972314	1.00[EUR][1000 genomes]
rs4972366	1.00[EUR][1000 genomes]
rs58341690	1.00[EUR][1000 genomes]
rs7578992	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7581537	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	nsv875275	chr2:148166428-148711242	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv916286	chr2:148438001-148977722	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv529388	chr2:148471340-148934846	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	esv3392562	chr2:148476961-148843061	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:148604000-148612600	Weak transcription	Gastric	stomach
2	chr2:148604000-148620000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:148604600-148610000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr2:148604600-148610000	Weak transcription	NHDF-Ad	bronchial
5	chr2:148604600-148612400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:148604600-148612400	Weak transcription	Left Ventricle	heart
7	chr2:148604600-148612400	Weak transcription	Right Ventricle	heart
8	chr2:148604600-148612600	Weak transcription	Pancreas	Pancrea
9	chr2:148604600-148614600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:148604600-148616400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr2:148604600-148617200	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr2:148604600-148617600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr2:148604600-148617600	Weak transcription	HSMM	muscle
14	chr2:148604800-148612800	Weak transcription	Right Atrium	heart
15	chr2:148605600-148612800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:148605600-148613200	Enhancers	HepG2	liver
17	chr2:148605600-148614600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr2:148606000-148612200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:148606000-148614200	Weak transcription	Brain Germinal Matrix	brain
20	chr2:148606000-148614600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr2:148606000-148620800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr2:148606000-148627600	Weak transcription	Brain Angular Gyrus	brain
23	chr2:148606200-148620800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:148607200-148609200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr2:148607200-148609400	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr2:148607200-148609400	Enhancers	Stomach Mucosa	stomach
27	chr2:148607400-148617400	Weak transcription	Fetal Brain Female	brain
28	chr2:148607600-148611400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr2:148607800-148609600	Enhancers	Liver	Liver
30	chr2:148607800-148615600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:148608000-148609200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:148608000-148609600	Weak transcription	Ovary	ovary
33	chr2:148608000-148612600	Weak transcription	Psoas Muscle	Psoas
34	chr2:148608000-148612600	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr2:148608000-148612800	Weak transcription	Fetal Brain Male	brain
36	chr2:148608200-148614800	Weak transcription	Brain Hippocampus Middle	brain
37	chr2:148608600-148609200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr2:148608600-148609200	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr2:148608600-148609400	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr2:148608600-148610200	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr2:148608600-148610400	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr2:148608600-148612800	Weak transcription	Colon Smooth Muscle	Colon
43	chr2:148608600-148616800	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr2:148608800-148609200	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr2:148608800-148612400	Weak transcription	Small Intestine	intestine
46	chr2:148608800-148617400	Weak transcription	HSMMtube	muscle
47	chr2:148609000-148609400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr2:148609000-148609400	Enhancers	Duodenum Mucosa	Duodenum
49	chr2:148609000-148609400	Bivalent/Poised TSS	GM12878-XiMat	blood
50	chr2:148609000-148610200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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