Variant report

Variant	rs216257
Chromosome Location	chr6:24934664-24934665
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	chr6:24933782..24934728-chr6:25070736..25071642,2	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	0.83[JPT][hapmap];0.86[ASN][1000 genomes]
rs12216261	0.86[ASN][1000 genomes]
rs1626145	0.88[ASN][1000 genomes]
rs1753511	0.90[ASN][1000 genomes]
rs1813711	0.90[ASN][1000 genomes]
rs216256	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs216258	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs216260	0.88[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs216261	0.85[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs216262	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs370748	0.90[ASN][1000 genomes]
rs386511	0.90[ASN][1000 genomes]
rs388071	0.90[ASN][1000 genomes]
rs413203	0.86[ASN][1000 genomes]
rs413610	0.90[ASN][1000 genomes]
rs415025	0.90[ASN][1000 genomes]
rs419288	0.82[ASN][1000 genomes]
rs421817	1.00[CHB][hapmap];0.84[JPT][hapmap];0.90[ASN][1000 genomes]
rs431796	0.90[ASN][1000 genomes]
rs432593	0.90[ASN][1000 genomes]
rs495157	1.00[CHB][hapmap];0.84[JPT][hapmap]
rs628794	1.00[CHB][hapmap];0.84[JPT][hapmap];0.90[ASN][1000 genomes]
rs640380	0.84[JPT][hapmap];0.86[ASN][1000 genomes]
rs640845	0.86[ASN][1000 genomes]
rs644722	1.00[CHB][hapmap];0.84[JPT][hapmap];0.90[ASN][1000 genomes]
rs644748	1.00[CHB][hapmap];0.84[JPT][hapmap];0.90[ASN][1000 genomes]
rs685008	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs7742242	0.89[ASN][1000 genomes]
rs9356949	0.86[ASN][1000 genomes]
rs9379698	0.86[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:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24929000-24935200	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood
2	chr6:24929600-24936000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr6:24930200-24935600	Weak transcription	Duodenum Mucosa	Duodenum
4	chr6:24930600-24935600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:24930800-24938200	Weak transcription	Right Atrium	heart
6	chr6:24931000-24936000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr6:24931000-24936800	Weak transcription	Gastric	stomach
8	chr6:24931000-24937800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:24931200-24937200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr6:24931800-24936400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
11	chr6:24932200-24935600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr6:24932200-24935800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr6:24932200-24935800	Weak transcription	Adipose Nuclei	Adipose
14	chr6:24932400-24936400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
15	chr6:24932400-24936600	Active TSS	Primary T helper naive cells from peripheral blood	blood
16	chr6:24932400-24937200	Active TSS	Primary T killer memory cells from peripheral blood	blood
17	chr6:24932600-24935600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr6:24932600-24937200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
19	chr6:24932800-24935800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr6:24932800-24936800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr6:24933000-24936000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr6:24933400-24934800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
23	chr6:24933400-24934800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr6:24933400-24935800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:24933400-24936600	Active TSS	Primary T cells from cord blood	blood
26	chr6:24933600-24936000	Active TSS	Small Intestine	intestine
27	chr6:24933600-24936200	Active TSS	Sigmoid Colon	Sigmoid Colon
28	chr6:24933600-24936800	Active TSS	Primary T cells fromperipheralblood	blood
29	chr6:24933600-24937400	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr6:24933800-24935000	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr6:24933800-24935600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr6:24933800-24935800	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr6:24933800-24936200	Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr6:24933800-24936200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr6:24933800-24936400	Active TSS	H9 Cell Line	embryonic stem cell
36	chr6:24933800-24936400	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr6:24934000-24934800	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr6:24934000-24935000	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr6:24934200-24934800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr6:24934200-24934800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr6:24934200-24935600	Active TSS	Primary hematopoietic stem cells	blood
42	chr6:24934200-24935600	Enhancers	Dnd41	blood
43	chr6:24934200-24935800	Active TSS	Primary T helper cells fromperipheralblood	blood
44	chr6:24934200-24936000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
45	chr6:24934200-24937200	Weak transcription	Spleen	Spleen
46	chr6:24934400-24934800	Active TSS	GM12878-XiMat	blood
47	chr6:24934400-24935200	Weak transcription	Rectal Smooth Muscle	rectum
48	chr6:24934400-24935600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr6:24934400-24936200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
50	chr6:24934600-24934800	Flanking Active TSS	H1 Cell Line	embryonic stem cell

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