Variant report

Variant	rs2019540
Chromosome Location	chr6:49452166-49452167
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:49444826..49447432-chr6:49451327..49454178,2	K562	blood:
2	chr6:49445932..49448619-chr6:49451327..49454522,3	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1471538	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs1480616	1.00[AMR][1000 genomes]
rs2086422	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2127760	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2501967	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73427953	1.00[AMR][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	nsv1024959	chr6:49290141-49652124	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1021136	chr6:49295037-49631278	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1019611	chr6:49431569-49470663	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
4	nsv885881	chr6:49439805-49575141	Weak transcription Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:49431800-49456400	Weak transcription	Placenta	Placenta
2	chr6:49431800-49456600	Weak transcription	Left Ventricle	heart
3	chr6:49431800-49461200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr6:49431800-49462000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr6:49432000-49456200	Weak transcription	Brain Anterior Caudate	brain
6	chr6:49432000-49456400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr6:49432000-49457600	Weak transcription	HSMM	muscle
8	chr6:49432000-49459600	Weak transcription	Small Intestine	intestine
9	chr6:49432000-49462000	Weak transcription	Brain Angular Gyrus	brain
10	chr6:49432000-49463000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr6:49432200-49452400	Weak transcription	Primary T cells from cord blood	blood
12	chr6:49432200-49456200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr6:49432200-49456400	Weak transcription	Duodenum Mucosa	Duodenum
14	chr6:49432200-49456400	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr6:49432200-49456600	Weak transcription	NH-A	brain
16	chr6:49432200-49457400	Weak transcription	Brain Germinal Matrix	brain
17	chr6:49432200-49461600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr6:49432200-49462400	Weak transcription	Fetal Lung	lung
19	chr6:49432200-49462800	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr6:49432200-49463800	Weak transcription	Stomach Smooth Muscle	stomach
21	chr6:49432200-49465000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr6:49432400-49456400	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr6:49432600-49456000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr6:49432600-49456000	Weak transcription	HMEC	breast
25	chr6:49432600-49456400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr6:49432600-49456400	Weak transcription	Primary hematopoietic stem cells	blood
27	chr6:49432600-49456800	Weak transcription	Brain Hippocampus Middle	brain
28	chr6:49432600-49460600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr6:49432600-49472000	Weak transcription	NHEK	skin
30	chr6:49433200-49459600	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr6:49433200-49461200	Weak transcription	NHDF-Ad	bronchial
32	chr6:49433600-49458600	Weak transcription	Hela-S3	cervix
33	chr6:49434200-49456400	Weak transcription	GM12878-XiMat	blood
34	chr6:49437400-49456400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr6:49439400-49456600	Weak transcription	Fetal Muscle Trunk	muscle
36	chr6:49440400-49460000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr6:49440400-49465200	Weak transcription	HUVEC	blood vessel
38	chr6:49440800-49455200	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr6:49441000-49456200	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr6:49441000-49456400	Weak transcription	Liver	Liver
41	chr6:49441000-49456400	Weak transcription	K562	blood
42	chr6:49441000-49464200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr6:49441200-49452800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr6:49441200-49452800	Weak transcription	HepG2	liver
45	chr6:49441200-49456200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr6:49441200-49456200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr6:49441200-49456400	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr6:49441200-49461800	Weak transcription	A549	lung
49	chr6:49441400-49456400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr6:49441400-49456400	Weak transcription	Rectal Mucosa Donor 29	rectum

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