Variant report

Variant	rs2207400
Chromosome Location	chr6:24888224-24888225
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:24886932..24889489-chr6:24891782..24893899,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10946732	1.00[ASN][1000 genomes]
rs12111413	1.00[ASN][1000 genomes]
rs13192978	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13211772	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13215106	1.00[CEU][hapmap];0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13220782	1.00[ASN][1000 genomes]
rs16889761	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17671350	1.00[ASN][1000 genomes]
rs2207401	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2747678	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2747679	1.00[CEU][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35158242	1.00[ASN][1000 genomes]
rs35250553	1.00[ASN][1000 genomes]
rs35953835	1.00[ASN][1000 genomes]
rs61595405	1.00[ASN][1000 genomes]
rs6456637	1.00[ASN][1000 genomes]
rs6914915	1.00[CHB][hapmap];0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6918387	1.00[ASN][1000 genomes]
rs6918511	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs71555168	1.00[ASN][1000 genomes]
rs7760221	1.00[CHB][hapmap];1.00[ASN][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	nsv830609	chr6:24712086-24896647	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24855200-24895000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
2	chr6:24876000-24901800	Weak transcription	Spleen	Spleen
3	chr6:24878400-24899800	Weak transcription	Thymus	Thymus
4	chr6:24880000-24889200	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr6:24881200-24898400	Genic enhancers	Primary T cells fromperipheralblood	blood
6	chr6:24881400-24895400	Genic enhancers	Primary B cells from peripheral blood	blood
7	chr6:24881600-24888400	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr6:24881800-24891000	Weak transcription	Psoas Muscle	Psoas
9	chr6:24882400-24904000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr6:24882600-24899200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr6:24884000-24889600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr6:24884000-24908200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr6:24884200-24891000	Weak transcription	Fetal Muscle Leg	muscle
14	chr6:24884200-24899800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr6:24885600-24891200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr6:24885600-24896600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr6:24885800-24890000	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr6:24886400-24889400	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr6:24886600-24888600	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr6:24886600-24895000	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr6:24886800-24888400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr6:24886800-24888800	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr6:24886800-24889400	Enhancers	Fetal Heart	heart
24	chr6:24886800-24889600	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr6:24887000-24889600	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr6:24887000-24890200	Genic enhancers	Primary B cells from cord blood	blood
27	chr6:24887000-24894000	Weak transcription	Fetal Thymus	thymus
28	chr6:24887000-24900000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr6:24887200-24889200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr6:24887200-24889400	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr6:24887200-24889600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr6:24887400-24889600	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr6:24887400-24889600	Enhancers	HSMMtube	muscle
34	chr6:24887400-24889800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr6:24887400-24897400	Weak transcription	Primary hematopoietic stem cells	blood
36	chr6:24887400-24898000	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr6:24887600-24888400	Enhancers	NHDF-Ad	bronchial
38	chr6:24887600-24889600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr6:24887800-24888400	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr6:24887800-24888600	Enhancers	HSMM	muscle
41	chr6:24887800-24889000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr6:24887800-24889400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr6:24887800-24889400	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr6:24887800-24890800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr6:24887800-24891000	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr6:24888000-24888400	Flanking Active TSS	GM12878-XiMat	blood
47	chr6:24888000-24888600	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr6:24888000-24888600	Enhancers	Primary T cells from cord blood	blood
49	chr6:24888000-24889400	Enhancers	Brain Anterior Caudate	brain
50	chr6:24888000-24889800	Enhancers	Brain Germinal Matrix	brain

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