Variant report

Variant	rs2049951
Chromosome Location	chr6:15480898-15480899
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:15473996..15477838-chr6:15479843..15483274,5	K562	blood:
2	chr6:15469376..15472303-chr6:15480815..15482387,2	K562	blood:
3	chr6:15480753..15482538-chr6:15489895..15492218,2	K562	blood:
4	chr6:15474274..15478303-chr6:15480821..15484291,4	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1546851	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2049950	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2049952	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2064097	1.00[ASN][1000 genomes]
rs2064098	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2064100	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2179167	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2179168	0.82[AMR][1000 genomes]
rs2237111	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2237112	0.93[ASN][1000 genomes]
rs2237114	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2237115	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2237122	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2237125	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2237126	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2237127	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2237128	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2237129	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2237131	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2237137	0.87[ASN][1000 genomes]
rs2251828	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2282818	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2282822	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2282824	1.00[ASN][1000 genomes]
rs2299037	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2299038	1.00[ASN][1000 genomes]
rs2299040	1.00[ASN][1000 genomes]
rs2299041	1.00[ASN][1000 genomes]
rs35720984	0.93[ASN][1000 genomes]
rs3819398	0.94[ASN][1000 genomes]
rs4712252	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6912499	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6929454	0.92[ASN][1000 genomes]
rs727734	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs760660	1.00[ASN][1000 genomes]
rs7748741	1.00[ASN][1000 genomes]
rs7763809	1.00[ASN][1000 genomes]
rs926309	0.85[ASN][1000 genomes]
rs9370814	0.84[ASN][1000 genomes]
rs9383058	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv538140	chr6:15217899-15547127	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv538141	chr6:15234675-15509163	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:15435800-15487600	Weak transcription	Colonic Mucosa	Colon
2	chr6:15453000-15481000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr6:15458400-15484200	Weak transcription	Small Intestine	intestine
4	chr6:15461600-15491000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr6:15469600-15481200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr6:15470200-15481600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr6:15471000-15488200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr6:15471000-15502000	Weak transcription	A549	lung
9	chr6:15471400-15481000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr6:15471400-15488200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr6:15472000-15484200	Weak transcription	Liver	Liver
12	chr6:15476000-15481600	Weak transcription	K562	blood
13	chr6:15476000-15487400	Weak transcription	Duodenum Mucosa	Duodenum
14	chr6:15476200-15481400	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr6:15476200-15486600	Weak transcription	Dnd41	blood
16	chr6:15476200-15487200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr6:15476400-15487200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr6:15476600-15481400	Weak transcription	Primary hematopoietic stem cells	blood
19	chr6:15476600-15486600	Weak transcription	GM12878-XiMat	blood
20	chr6:15476600-15487000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr6:15476600-15487200	Weak transcription	Fetal Intestine Large	intestine
22	chr6:15476800-15481000	Weak transcription	Primary T cells from cord blood	blood
23	chr6:15476800-15481800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr6:15476800-15481800	Weak transcription	Thymus	Thymus
25	chr6:15476800-15484200	Weak transcription	Fetal Intestine Small	intestine
26	chr6:15476800-15487000	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr6:15476800-15487600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr6:15477000-15481000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr6:15477200-15482400	Enhancers	Psoas Muscle	Psoas
30	chr6:15477400-15481400	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr6:15477600-15486200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr6:15477600-15487400	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr6:15477600-15487600	Weak transcription	HepG2	liver
34	chr6:15477800-15481800	Weak transcription	Fetal Muscle Trunk	muscle
35	chr6:15478200-15487600	Weak transcription	Ovary	ovary
36	chr6:15478400-15481800	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr6:15478400-15484400	Weak transcription	Aorta	Aorta
38	chr6:15478400-15485800	Weak transcription	Colon Smooth Muscle	Colon
39	chr6:15478400-15487600	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr6:15478600-15484000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr6:15478600-15487400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr6:15478800-15482000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr6:15478800-15486400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr6:15479000-15481200	Enhancers	Left Ventricle	heart
45	chr6:15479200-15481200	Enhancers	H9 Cell Line	embryonic stem cell
46	chr6:15479200-15481200	Enhancers	HMEC	breast
47	chr6:15479400-15481000	Enhancers	Brain Substantia Nigra	brain
48	chr6:15479400-15481200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr6:15479400-15481800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr6:15479400-15482000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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