Variant report

Variant	rs551649425
Chromosome Location	chr6:49460588-49460589
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:49460315..49462517-chr6:49463838..49466982,4	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 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
5	esv1793167	chr6:49459978-49466686	Weak transcription Strong transcription Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	esv1799212	chr6:49459978-49466791	Weak transcription Strong transcription Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:49431800-49461200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr6:49431800-49462000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr6:49432000-49462000	Weak transcription	Brain Angular Gyrus	brain
4	chr6:49432000-49463000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr6:49432200-49461600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr6:49432200-49462400	Weak transcription	Fetal Lung	lung
7	chr6:49432200-49462800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr6:49432200-49463800	Weak transcription	Stomach Smooth Muscle	stomach
9	chr6:49432200-49465000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr6:49432600-49460600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr6:49432600-49472000	Weak transcription	NHEK	skin
12	chr6:49433200-49461200	Weak transcription	NHDF-Ad	bronchial
13	chr6:49440400-49465200	Weak transcription	HUVEC	blood vessel
14	chr6:49441000-49464200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:49441200-49461800	Weak transcription	A549	lung
16	chr6:49446800-49461800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:49448400-49464600	Weak transcription	Gastric	stomach
18	chr6:49449800-49463000	Weak transcription	Lung	lung
19	chr6:49449800-49465000	Weak transcription	Fetal Muscle Leg	muscle
20	chr6:49450400-49461400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr6:49450400-49464200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr6:49450600-49462600	Weak transcription	Thymus	Thymus
23	chr6:49450600-49464000	Weak transcription	Spleen	Spleen
24	chr6:49451000-49461800	Weak transcription	Colon Smooth Muscle	Colon
25	chr6:49451400-49467400	Weak transcription	Fetal Intestine Small	intestine
26	chr6:49451600-49464000	Weak transcription	Fetal Stomach	stomach
27	chr6:49453800-49462000	Strong transcription	Dnd41	blood
28	chr6:49454000-49465200	Weak transcription	Fetal Brain Male	brain
29	chr6:49454800-49463400	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr6:49455000-49462200	Weak transcription	Psoas Muscle	Psoas
31	chr6:49455200-49461600	Strong transcription	Primary B cells from peripheral blood	blood
32	chr6:49455200-49463600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr6:49455400-49461400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr6:49455600-49460600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr6:49455600-49461800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr6:49455600-49461800	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr6:49455600-49461800	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr6:49455600-49462200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr6:49455800-49462000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr6:49456000-49461600	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr6:49456200-49460600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr6:49456200-49461400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr6:49456200-49461400	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr6:49456200-49462200	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr6:49456200-49462800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr6:49456400-49460600	Strong transcription	GM12878-XiMat	blood
47	chr6:49456400-49461000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr6:49456400-49461000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr6:49456400-49461000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr6:49456400-49461000	Strong transcription	Duodenum Smooth Muscle	Duodenum

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