Variant report

Variant	rs16844505
Chromosome Location	chr2:211336113-211336114
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:211332522..211338097-chr2:211338673..211343444,12	K562	blood:
2	chr2:211334411..211336999-chr2:211341944..211344894,2	K562	blood:
3	chr2:211333118..211336164-chr2:211339980..211343181,4	MCF-7	breast:
4	chr2:211331221..211336571-chr2:211337651..211341435,6	K562	blood:

Variant related genes	Relation type
ENSG00000021826	Chromatin interaction
ENSG00000115365	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1468957	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16844452	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16844536	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16844550	1.00[EUR][1000 genomes]
rs16844551	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16844579	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16844625	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2098502	1.00[EUR][1000 genomes]
rs4263061	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59821750	1.00[EUR][1000 genomes]
rs60428496	1.00[EUR][1000 genomes]
rs60981818	1.00[EUR][1000 genomes]
rs61291087	1.00[EUR][1000 genomes]
rs6713369	0.83[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6721139	1.00[EUR][1000 genomes]
rs6742717	1.00[EUR][1000 genomes]
rs6743023	1.00[EUR][1000 genomes]
rs6745362	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6750667	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs73069742	1.00[EUR][1000 genomes]
rs73069777	1.00[EUR][1000 genomes]
rs73069798	1.00[EUR][1000 genomes]
rs73071716	1.00[EUR][1000 genomes]
rs73071719	1.00[EUR][1000 genomes]
rs73071732	1.00[EUR][1000 genomes]
rs73071736	1.00[EUR][1000 genomes]
rs73984617	1.00[EUR][1000 genomes]
rs7560638	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7569730	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7571548	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7571893	1.00[EUR][1000 genomes]
rs7600777	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7600898	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];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	esv3398091	chr2:211315261-211634200	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr2:211295000-211340600	Weak transcription	HUVEC	blood vessel
2	chr2:211296000-211340200	Weak transcription	Small Intestine	intestine
3	chr2:211296400-211341000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:211297800-211336200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:211301200-211340200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:211301200-211340600	Weak transcription	Fetal Intestine Small	intestine
7	chr2:211301200-211340800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:211315400-211340000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:211315600-211337800	Strong transcription	Fetal Thymus	thymus
10	chr2:211315600-211339600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:211315800-211337200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:211315800-211337800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:211316000-211338000	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr2:211316200-211337800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:211316200-211337800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:211316600-211339000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr2:211316800-211338800	Strong transcription	Dnd41	blood
18	chr2:211318000-211337800	Strong transcription	Stomach Smooth Muscle	stomach
19	chr2:211321200-211337600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr2:211322400-211340400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr2:211322600-211340400	Weak transcription	K562	blood
22	chr2:211323400-211340200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:211324800-211339000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr2:211325800-211340800	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr2:211326800-211338800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:211326800-211339800	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr2:211327200-211338000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr2:211327400-211339000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr2:211327600-211339000	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr2:211328200-211337800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr2:211328600-211337000	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr2:211329400-211336600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr2:211329600-211336800	Strong transcription	Left Ventricle	heart
34	chr2:211329600-211337200	Strong transcription	Primary T cells from cord blood	blood
35	chr2:211329800-211336400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr2:211329800-211336400	Strong transcription	Brain Cingulate Gyrus	brain
37	chr2:211329800-211336800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr2:211329800-211336800	Strong transcription	Primary B cells from peripheral blood	blood
39	chr2:211329800-211336800	Strong transcription	Adipose Nuclei	Adipose
40	chr2:211329800-211336800	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr2:211329800-211336800	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr2:211329800-211336800	Strong transcription	Skeletal Muscle Female	skeletal muscle
43	chr2:211329800-211336800	Strong transcription	A549	lung
44	chr2:211329800-211337000	Strong transcription	Primary B cells from cord blood	blood
45	chr2:211329800-211337200	Strong transcription	Liver	Liver
46	chr2:211329800-211338000	Strong transcription	Fetal Intestine Large	intestine
47	chr2:211329800-211338400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr2:211329800-211339200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr2:211330000-211336800	Strong transcription	Muscle Satellite Cultured Cells	--
50	chr2:211330000-211336800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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