Variant report

Variant	rs16828000
Chromosome Location	chr2:148654911-148654912
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	chr2:148649732..148651497-chr2:148654166..148656398,2	K562	blood:
2	chr2:148652429..148655171-chr2:148658453..148660527,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000223911	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16827989	1.00[AFR][1000 genomes]
rs16828046	1.00[AFR][1000 genomes]
rs16828172	1.00[AFR][1000 genomes]
rs16828249	1.00[AFR][1000 genomes]
rs16828255	1.00[AFR][1000 genomes]
rs16828309	1.00[AFR][1000 genomes]
rs1863154	0.84[AFR][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:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:148634600-148668200	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr2:148637200-148752600	Weak transcription	Small Intestine	intestine
3	chr2:148642600-148668200	Weak transcription	Psoas Muscle	Psoas
4	chr2:148642800-148657000	Weak transcription	Fetal Kidney	kidney
5	chr2:148642800-148668200	Weak transcription	Fetal Lung	lung
6	chr2:148642800-148670800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:148642800-148674600	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr2:148643200-148660000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr2:148643200-148663800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:148644800-148657200	Weak transcription	Left Ventricle	heart
11	chr2:148645600-148671000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr2:148645800-148657200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr2:148645800-148671400	Weak transcription	Fetal Heart	heart
14	chr2:148646000-148660600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr2:148646200-148684400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr2:148646400-148657200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:148646600-148657200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:148646600-148663800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr2:148646600-148668400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr2:148646600-148671200	Weak transcription	HMEC	breast
21	chr2:148646600-148691000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr2:148646800-148657000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:148646800-148657600	Weak transcription	Adipose Nuclei	Adipose
24	chr2:148647000-148655000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:148647000-148657200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:148647200-148719600	Weak transcription	Pancreas	Pancrea
27	chr2:148649200-148657000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:148649600-148674800	Weak transcription	Fetal Muscle Leg	muscle
29	chr2:148650200-148719600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:148650400-148657400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr2:148650800-148663400	Weak transcription	HUVEC	blood vessel
32	chr2:148651200-148691600	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr2:148651800-148658800	Weak transcription	Brain Germinal Matrix	brain
34	chr2:148652800-148690000	Weak transcription	Primary hematopoietic stem cells	blood
35	chr2:148652800-148693600	Weak transcription	Lung	lung
36	chr2:148653200-148692000	Weak transcription	Ovary	ovary
37	chr2:148653200-148719600	Weak transcription	Esophagus	oesophagus
38	chr2:148653400-148655000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:148653400-148656400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr2:148653400-148657200	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr2:148653600-148671000	Weak transcription	Osteobl	bone
42	chr2:148653600-148671400	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr2:148653600-148673400	Weak transcription	HepG2	liver
44	chr2:148653800-148671600	Weak transcription	Fetal Stomach	stomach
45	chr2:148653800-148672800	Weak transcription	Liver	Liver
46	chr2:148654000-148690000	Weak transcription	Primary T cells from cord blood	blood
47	chr2:148654400-148657200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr2:148654400-148664400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr2:148654600-148657200	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr2:148654600-148657200	Weak transcription	HSMM	muscle

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