Variant report

Variant	rs16867064
Chromosome Location	chr2:9731036-9731037
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:9730159..9735372-chr2:9781969..9785269,4	K562	blood:
2	chr2:9729625..9733750-chr2:9734391..9737280,4	K562	blood:
3	chr2:9729940..9731942-chr2:9735786..9737660,2	MCF-7	breast:
4	chr2:9683590..9686533-chr2:9728369..9731306,2	K562	blood:
5	chr2:9730968..9733407-chr2:9764631..9766138,2	MCF-7	breast:
6	chr2:9729553..9733750-chr2:9733992..9737827,4	K562	blood:
7	chr2:9728687..9732312-chr2:9769303..9771516,5	MCF-7	breast:
8	chr2:9729206..9731620-chr2:9742153..9744799,2	K562	blood:

Variant related genes	Relation type
ENSG00000134308	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs16867063	0.87[AFR][1000 genomes]
rs16867065	1.00[EUR][1000 genomes]
rs17428551	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73155523	1.00[EUR][1000 genomes]
rs73913146	0.85[AMR][1000 genomes]
rs7601942	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv580915	chr2:9308148-9844178	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS 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	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9696800-9767600	Weak transcription	Gastric	stomach
2	chr2:9706000-9733600	Weak transcription	Pancreas	Pancrea
3	chr2:9706400-9734200	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr2:9715000-9735200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:9717600-9734800	Weak transcription	Spleen	Spleen
6	chr2:9718000-9731600	Weak transcription	Fetal Heart	heart
7	chr2:9719200-9747800	Weak transcription	Lung	lung
8	chr2:9719400-9733600	Weak transcription	Right Atrium	heart
9	chr2:9719400-9734800	Weak transcription	Aorta	Aorta
10	chr2:9720000-9731200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:9720000-9732000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr2:9720400-9733000	Strong transcription	NHDF-Ad	bronchial
13	chr2:9720400-9734200	Weak transcription	Small Intestine	intestine
14	chr2:9720400-9734800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:9721800-9732200	Strong transcription	Fetal Thymus	thymus
16	chr2:9722800-9731400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:9722800-9732400	Strong transcription	Fetal Intestine Large	intestine
18	chr2:9722800-9732600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:9722800-9734600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:9723000-9732200	Strong transcription	Fetal Muscle Leg	muscle
21	chr2:9723000-9732600	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr2:9723000-9733200	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr2:9723200-9731200	Strong transcription	Fetal Brain Female	brain
24	chr2:9723400-9732200	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr2:9723400-9732200	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr2:9723400-9732200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr2:9723400-9732400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr2:9723400-9732400	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr2:9723400-9732400	Strong transcription	HMEC	breast
30	chr2:9723400-9732600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr2:9723400-9732600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr2:9723400-9733400	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr2:9723400-9736200	Strong transcription	Dnd41	blood
34	chr2:9723600-9731200	Strong transcription	Primary B cells from peripheral blood	blood
35	chr2:9723600-9731800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:9723600-9731800	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr2:9723600-9732000	Strong transcription	Adipose Nuclei	Adipose
38	chr2:9723600-9732200	Strong transcription	Primary B cells from cord blood	blood
39	chr2:9723600-9732200	Strong transcription	Liver	Liver
40	chr2:9723600-9732200	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr2:9723600-9732400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr2:9723600-9732400	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr2:9723600-9732600	Strong transcription	Duodenum Mucosa	Duodenum
44	chr2:9723600-9732800	Strong transcription	Fetal Lung	lung
45	chr2:9723600-9733400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr2:9723600-9734600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr2:9723600-9735400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr2:9723800-9731800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr2:9723800-9739800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr2:9724200-9731600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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