Variant report

Variant	rs16844739
Chromosome Location	chr3:105601360-105601361
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	chr3:105595423..105598244-chr3:105600923..105603422,2	K562	blood:
2	chr3:105594821..105597024-chr3:105599746..105602672,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs12491881	1.00[EUR][1000 genomes]
rs1503922	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16851428	1.00[EUR][1000 genomes]
rs16851443	1.00[EUR][1000 genomes]
rs16851470	1.00[EUR][1000 genomes]
rs16851492	1.00[EUR][1000 genomes]
rs16851534	1.00[EUR][1000 genomes]
rs2055561	0.84[EUR][1000 genomes]
rs2055562	1.00[EUR][1000 genomes]
rs2134716	0.84[EUR][1000 genomes]
rs2134717	0.84[EUR][1000 genomes]
rs2301039	1.00[EUR][1000 genomes]
rs3772535	1.00[EUR][1000 genomes]
rs57292140	0.92[EUR][1000 genomes]
rs57856850	1.00[EUR][1000 genomes]
rs58424957	1.00[EUR][1000 genomes]
rs59184166	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59197939	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59358778	1.00[EUR][1000 genomes]
rs59523739	1.00[EUR][1000 genomes]
rs59569585	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59612207	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60139983	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60536875	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60737645	0.92[EUR][1000 genomes]
rs61317978	1.00[EUR][1000 genomes]
rs7622735	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs920711	1.00[EUR][1000 genomes];1.00[ASN][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	nsv1008564	chr3:105554580-105643435	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1008876	chr3:105554580-105645373	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv877312	chr3:105560638-105916506	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:105597200-105601400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr3:105597600-105601400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr3:105597600-105601400	Weak transcription	Primary T cells from cord blood	blood
4	chr3:105597600-105601400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr3:105600200-105601400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr3:105601200-105601400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr3:105601200-105601400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr3:105601200-105601400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr3:105601200-105601400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
10	chr3:105601200-105601400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr3:105601200-105601400	Enhancers	Placenta	Placenta
12	chr3:105601200-105601400	Flanking Active TSS	Thymus	Thymus
13	chr3:105601200-105601400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr3:105601200-105601600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr3:105601200-105601600	Enhancers	Aorta	Aorta
16	chr3:105601200-105601800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr3:105601200-105601800	Active TSS	Fetal Heart	heart
18	chr3:105601200-105601800	Active TSS	Stomach Mucosa	stomach
19	chr3:105601200-105601800	Active TSS	HUVEC	blood vessel
20	chr3:105601200-105601800	Active TSS	NHDF-Ad	bronchial
21	chr3:105601200-105602000	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr3:105601200-105602000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr3:105601200-105602000	Active TSS	Primary B cells from cord blood	blood
24	chr3:105601200-105602000	Active TSS	Primary T cells fromperipheralblood	blood
25	chr3:105601200-105602000	Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr3:105601200-105602000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
27	chr3:105601200-105602000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
28	chr3:105601200-105602000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
29	chr3:105601200-105602000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
30	chr3:105601200-105602000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
31	chr3:105601200-105602000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr3:105601200-105602000	Active TSS	Cortex derived primary cultured neurospheres	brain
33	chr3:105601200-105602000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr3:105601200-105602000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr3:105601200-105602000	Active TSS	Adipose Nuclei	Adipose
36	chr3:105601200-105602000	Active TSS	Liver	Liver
37	chr3:105601200-105602000	Active TSS	Brain Angular Gyrus	brain
38	chr3:105601200-105602000	Active TSS	Brain Anterior Caudate	brain
39	chr3:105601200-105602000	Active TSS	Brain Germinal Matrix	brain
40	chr3:105601200-105602000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr3:105601200-105602000	Active TSS	Colon Smooth Muscle	Colon
42	chr3:105601200-105602000	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr3:105601200-105602000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr3:105601200-105602000	Active TSS	Fetal Intestine Large	intestine
45	chr3:105601200-105602000	Active TSS	Fetal Intestine Small	intestine
46	chr3:105601200-105602000	Active TSS	Fetal Kidney	kidney
47	chr3:105601200-105602000	Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr3:105601200-105602000	Active TSS	Fetal Muscle Leg	muscle
49	chr3:105601200-105602000	Active TSS	Fetal Stomach	stomach
50	chr3:105601200-105602000	Active TSS	Left Ventricle	heart

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