Variant report

Variant	rs1357518
Chromosome Location	chr6:34992519-34992520
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	chr6:34984374..34990603-chr6:34991816..34996687,6	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1880089	1.00[CEU][hapmap];0.84[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2140419	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2689088	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2689090	0.81[GIH][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs2689092	1.00[CEU][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2689093	1.00[CEU][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2820239	1.00[CEU][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022844	chr6:34317219-35060519	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv538195	chr6:34317219-35060519	Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34939400-35016000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr6:34963600-35006600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr6:34979800-35002000	Weak transcription	GM12878-XiMat	blood
4	chr6:34986200-34996400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr6:34986200-35015000	Weak transcription	Primary B cells from peripheral blood	blood
6	chr6:34986400-35011800	Weak transcription	Dnd41	blood
7	chr6:34986600-34993000	Weak transcription	Esophagus	oesophagus
8	chr6:34986800-35014800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr6:34987000-35009000	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr6:34987000-35015800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr6:34987200-34993200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:34987400-34998600	Weak transcription	Primary B cells from cord blood	blood
13	chr6:34987400-34999200	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr6:34987400-34999600	Weak transcription	Fetal Kidney	kidney
15	chr6:34987400-35015800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr6:34987800-34993200	Enhancers	Psoas Muscle	Psoas
17	chr6:34988000-34992600	Genic enhancers	Fetal Muscle Leg	muscle
18	chr6:34988200-34993600	Enhancers	Brain Angular Gyrus	brain
19	chr6:34988200-34994200	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr6:34988400-34993200	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr6:34988400-34995000	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr6:34988400-34995600	Enhancers	H1 Cell Line	embryonic stem cell
23	chr6:34988600-34993200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr6:34988600-34999200	Enhancers	Brain Anterior Caudate	brain
25	chr6:34988800-34994400	Enhancers	Brain Substantia Nigra	brain
26	chr6:34989000-35002800	Weak transcription	Fetal Thymus	thymus
27	chr6:34989200-34993200	Enhancers	Right Ventricle	heart
28	chr6:34989200-34996000	Weak transcription	Pancreas	Pancrea
29	chr6:34989400-34992800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr6:34989400-34993800	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr6:34989400-34996800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr6:34989400-35002200	Weak transcription	Thymus	Thymus
33	chr6:34989800-34993800	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr6:34990000-34992800	Enhancers	H9 Cell Line	embryonic stem cell
35	chr6:34990000-34993800	Enhancers	Brain Cingulate Gyrus	brain
36	chr6:34990000-34995200	Enhancers	Colon Smooth Muscle	Colon
37	chr6:34990000-34998400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr6:34990200-34995600	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr6:34990600-34994200	Enhancers	Stomach Mucosa	stomach
40	chr6:34990600-34994400	Enhancers	Fetal Heart	heart
41	chr6:34990800-34993600	Enhancers	K562	blood
42	chr6:34990800-34993800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr6:34990800-34993800	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr6:34990800-34993800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr6:34990800-34993800	Enhancers	Aorta	Aorta
46	chr6:34990800-34994000	Enhancers	Fetal Lung	lung
47	chr6:34990800-34994800	Weak transcription	Primary T cells from cord blood	blood
48	chr6:34990800-34995000	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr6:34990800-34996800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr6:34990800-34997600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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