Variant report

Variant	rs216262
Chromosome Location	chr6:24930614-24930615
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:24929367..24931167-chr6:24936238..24937978,2	MCF-7	breast:
2	chr6:24928799..24930650-chr6:24931112..24934002,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12202529	0.90[ASN][1000 genomes]
rs12216261	0.90[ASN][1000 genomes]
rs1626145	0.83[ASN][1000 genomes]
rs16889835	0.83[ASN][1000 genomes]
rs1753511	0.86[ASN][1000 genomes]
rs1813711	0.85[ASN][1000 genomes]
rs216256	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs216257	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs216258	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs216260	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs216261	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs370748	0.86[ASN][1000 genomes]
rs386511	0.86[ASN][1000 genomes]
rs388071	0.86[ASN][1000 genomes]
rs413203	0.90[ASN][1000 genomes]
rs413610	0.86[ASN][1000 genomes]
rs415025	0.86[ASN][1000 genomes]
rs419288	0.86[ASN][1000 genomes]
rs421817	0.86[ASN][1000 genomes]
rs431796	0.86[ASN][1000 genomes]
rs432593	0.86[ASN][1000 genomes]
rs628794	0.86[ASN][1000 genomes]
rs640380	0.90[ASN][1000 genomes]
rs640845	0.90[ASN][1000 genomes]
rs644722	0.86[ASN][1000 genomes]
rs644748	0.86[ASN][1000 genomes]
rs685008	0.85[ASN][1000 genomes]
rs7742242	0.87[ASN][1000 genomes]
rs9356949	0.90[ASN][1000 genomes]
rs9379698	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022966	chr6:24763776-25154212	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv538160	chr6:24763776-25154212	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1019504	chr6:24869174-24994758	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv883482	chr6:24926730-25035920	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1023989	chr6:24930362-25285679	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS 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	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24920600-24932000	Weak transcription	Fetal Kidney	kidney
2	chr6:24924600-24930800	Weak transcription	Brain Germinal Matrix	brain
3	chr6:24925000-24930800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr6:24925600-24931000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr6:24925600-24931000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr6:24925600-24931800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr6:24926200-24930800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr6:24926800-24931600	Weak transcription	Stomach Mucosa	stomach
9	chr6:24926800-24934400	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
10	chr6:24927000-24930800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr6:24927000-24931600	Weak transcription	Fetal Intestine Small	intestine
12	chr6:24927200-24933600	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
13	chr6:24927400-24931800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
14	chr6:24927400-24932200	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
15	chr6:24927600-24931600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr6:24927600-24932400	Transcr. at gene 5' and 3'	Primary T killer memory cells from peripheral blood	blood
17	chr6:24927800-24931400	Enhancers	Osteobl	bone
18	chr6:24927800-24932800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr6:24927800-24933200	Enhancers	HSMM	muscle
20	chr6:24927800-24934400	Enhancers	HSMMtube	muscle
21	chr6:24928000-24931600	Genic enhancers	Primary monocytes fromperipheralblood	blood
22	chr6:24928000-24933400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:24928000-24934200	Enhancers	Fetal Lung	lung
24	chr6:24928200-24930800	Enhancers	Fetal Thymus	thymus
25	chr6:24928200-24931800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
26	chr6:24928200-24933000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr6:24928400-24932600	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr6:24928400-24933000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr6:24928400-24933400	Enhancers	Fetal Heart	heart
30	chr6:24928800-24933400	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
31	chr6:24929000-24932600	Flanking Active TSS	GM12878-XiMat	blood
32	chr6:24929000-24935200	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood
33	chr6:24929200-24931200	Enhancers	NHLF	lung
34	chr6:24929200-24932000	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr6:24929200-24932400	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
36	chr6:24929200-24932400	Transcr. at gene 5' and 3'	Primary T helper naive cells from peripheral blood	blood
37	chr6:24929400-24931000	Enhancers	Small Intestine	intestine
38	chr6:24929400-24932200	Enhancers	Adipose Nuclei	Adipose
39	chr6:24929400-24932400	Transcr. at gene 5' and 3'	Primary mononuclear cells fromperipheralblood	Blood
40	chr6:24929400-24932400	Enhancers	Fetal Muscle Leg	muscle
41	chr6:24929400-24932400	Enhancers	Fetal Stomach	stomach
42	chr6:24929400-24932600	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
43	chr6:24929400-24933000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr6:24929400-24934200	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
45	chr6:24929600-24930800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr6:24929600-24931000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr6:24929600-24931200	Transcr. at gene 5' and 3'	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr6:24929600-24932200	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
49	chr6:24929600-24932200	Enhancers	Psoas Muscle	Psoas
50	chr6:24929600-24932400	Enhancers	Skeletal Muscle Male	skeletal muscle

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