Variant report

Variant	rs2181051
Chromosome Location	chr14:70106277-70106278
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:70104798..70107619-chr14:70112192..70114043,4	MCF-7	breast:
2	chr14:70077144..70079517-chr14:70106099..70109030,2	MCF-7	breast:
3	chr14:70086768..70089383-chr14:70104603..70106500,2	MCF-7	breast:
4	chr14:70101993..70106597-chr14:70107643..70110243,6	MCF-7	breast:
5	chr14:70101474..70104313-chr14:70104673..70108475,3	K562	blood:
6	chr14:70101474..70104244-chr14:70105126..70107458,2	K562	blood:
7	chr14:70106221..70108070-chr14:70109431..70111866,2	K562	blood:
8	chr14:70105984..70107760-chr14:70157737..70159410,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000100647	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10151991	0.81[AFR][1000 genomes]
rs11158811	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs11624394	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs1275741	1.00[AFR][1000 genomes]
rs1275743	1.00[AFR][1000 genomes]
rs1275818	0.94[AFR][1000 genomes]
rs1275819	0.94[AFR][1000 genomes]
rs1275820	0.94[AFR][1000 genomes]
rs1275821	0.94[AFR][1000 genomes]
rs1275822	0.88[AFR][1000 genomes]
rs1957366	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs2208653	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs4899307	0.82[AFR][1000 genomes]
rs4902729	0.81[AFR][1000 genomes]
rs4902731	0.81[AFR][1000 genomes]
rs4902732	1.00[YRI][hapmap]
rs4902740	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs6573891	0.81[AFR][1000 genomes]
rs762050	0.94[AFR][1000 genomes]
rs8018613	0.81[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	nsv1049280	chr14:70036804-70172630	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv542124	chr14:70036804-70172630	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
4	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70093800-70107400	Enhancers	Primary B cells from peripheral blood	blood
2	chr14:70094800-70106600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr14:70095000-70106400	Enhancers	Brain Hippocampus Middle	brain
4	chr14:70095000-70106800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr14:70095400-70106600	Enhancers	Psoas Muscle	Psoas
6	chr14:70095400-70107000	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr14:70095600-70106800	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr14:70095800-70106400	Enhancers	Adipose Nuclei	Adipose
9	chr14:70097600-70106400	Enhancers	HMEC	breast
10	chr14:70098400-70106600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr14:70099200-70106800	Enhancers	Stomach Mucosa	stomach
12	chr14:70099400-70106600	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr14:70101200-70106600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr14:70101400-70106400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
15	chr14:70101600-70106400	Enhancers	Primary hematopoietic stem cells	blood
16	chr14:70101600-70106600	Enhancers	Spleen	Spleen
17	chr14:70101800-70106400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr14:70102000-70106600	Enhancers	Gastric	stomach
19	chr14:70102000-70106800	Enhancers	Small Intestine	intestine
20	chr14:70102200-70106400	Enhancers	Thymus	Thymus
21	chr14:70102200-70106600	Enhancers	Lung	lung
22	chr14:70102200-70106600	Enhancers	Pancreas	Pancrea
23	chr14:70102200-70106600	Enhancers	Right Atrium	heart
24	chr14:70102200-70107000	Enhancers	Primary T cells fromperipheralblood	blood
25	chr14:70102200-70107200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr14:70102200-70107400	Enhancers	Left Ventricle	heart
27	chr14:70102400-70106400	Enhancers	Liver	Liver
28	chr14:70102400-70107600	Enhancers	Fetal Intestine Large	intestine
29	chr14:70102600-70106600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr14:70102600-70106600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr14:70102600-70107000	Enhancers	Fetal Intestine Small	intestine
32	chr14:70102800-70106400	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr14:70103200-70106600	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr14:70103200-70107000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr14:70103600-70106400	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr14:70103600-70106800	Enhancers	Primary B cells from cord blood	blood
37	chr14:70103600-70106800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr14:70103600-70106800	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr14:70103600-70107400	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr14:70103800-70106600	Enhancers	H1 Cell Line	embryonic stem cell
41	chr14:70103800-70107400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr14:70104200-70106600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr14:70104600-70107600	Weak transcription	Fetal Muscle Trunk	muscle
44	chr14:70104800-70125600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr14:70105000-70106400	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr14:70105000-70106600	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr14:70105000-70107000	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr14:70105000-70108000	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr14:70105000-70113800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr14:70105200-70106400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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