Variant report

Variant	rs2501967
Chromosome Location	chr6:49459028-49459029
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:49458471..49460387-chr6:49460980..49463015,2	K562	blood:
2	chr6:49429806..49431359-chr6:49457434..49460019,2	K562	blood:
3	chr6:49431721..49433516-chr6:49458650..49460317,2	K562	blood:

Variant related genes	Relation type
ENSG00000146085	Chromatin interaction
ENSG00000031691	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1471538	1.00[ASW][hapmap];0.87[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1480616	1.00[AMR][1000 genomes]
rs2019540	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2086422	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2127760	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6939236	0.83[MKK][hapmap]
rs73427953	1.00[AMR][1000 genomes]
rs7762249	1.00[ASW][hapmap];0.81[MKK][hapmap]

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:111 , 50 per page) page: 1 2 3

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	chr6:49432000-49459600	Weak transcription	Small Intestine	intestine
4	chr6:49432000-49462000	Weak transcription	Brain Angular Gyrus	brain
5	chr6:49432000-49463000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr6:49432200-49461600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr6:49432200-49462400	Weak transcription	Fetal Lung	lung
8	chr6:49432200-49462800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr6:49432200-49463800	Weak transcription	Stomach Smooth Muscle	stomach
10	chr6:49432200-49465000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr6:49432600-49460600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr6:49432600-49472000	Weak transcription	NHEK	skin
13	chr6:49433200-49459600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr6:49433200-49461200	Weak transcription	NHDF-Ad	bronchial
15	chr6:49440400-49460000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr6:49440400-49465200	Weak transcription	HUVEC	blood vessel
17	chr6:49441000-49464200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr6:49441200-49461800	Weak transcription	A549	lung
19	chr6:49446000-49460200	Weak transcription	Stomach Mucosa	stomach
20	chr6:49446800-49461800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:49447800-49460400	Weak transcription	Right Ventricle	heart
22	chr6:49448000-49459800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr6:49448400-49464600	Weak transcription	Gastric	stomach
24	chr6:49448600-49460400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr6:49449400-49460200	Weak transcription	Brain Cingulate Gyrus	brain
26	chr6:49449800-49463000	Weak transcription	Lung	lung
27	chr6:49449800-49465000	Weak transcription	Fetal Muscle Leg	muscle
28	chr6:49450400-49461400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr6:49450400-49464200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr6:49450600-49462600	Weak transcription	Thymus	Thymus
31	chr6:49450600-49464000	Weak transcription	Spleen	Spleen
32	chr6:49451000-49461800	Weak transcription	Colon Smooth Muscle	Colon
33	chr6:49451400-49467400	Weak transcription	Fetal Intestine Small	intestine
34	chr6:49451600-49464000	Weak transcription	Fetal Stomach	stomach
35	chr6:49453800-49462000	Strong transcription	Dnd41	blood
36	chr6:49454000-49465200	Weak transcription	Fetal Brain Male	brain
37	chr6:49454800-49463400	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr6:49455000-49462200	Weak transcription	Psoas Muscle	Psoas
39	chr6:49455200-49460000	Weak transcription	Osteobl	bone
40	chr6:49455200-49460400	Strong transcription	Primary T cells from cord blood	blood
41	chr6:49455200-49461600	Strong transcription	Primary B cells from peripheral blood	blood
42	chr6:49455200-49463600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr6:49455400-49461400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr6:49455600-49460600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr6:49455600-49461800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr6:49455600-49461800	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr6:49455600-49461800	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr6:49455600-49462200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr6:49455800-49462000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr6:49456000-49461600	Strong transcription	HUES48 Cell Line	embryonic stem cell

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