Variant report

Variant	rs16933249
Chromosome Location	chr8:68213879-68213880
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	chr8:68213873..68216751-chr8:68219883..68222658,2	MCF-7	breast:
2	chr8:68211004..68214267-chr8:68215813..68220684,4	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10504400	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16919062	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16933206	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs16933209	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs16933211	0.91[AFR][1000 genomes]
rs16933213	0.91[AFR][1000 genomes]
rs16933216	0.91[AFR][1000 genomes]
rs16933219	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16933229	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16933230	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16933231	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16933233	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16933236	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16933241	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16933255	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35879592	1.00[YRI][hapmap];0.91[AFR][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	esv2752263	chr8:68170946-68788493	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	esv1839724	chr8:68195817-68346693	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr8:68104600-68215600	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr8:68155800-68226000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr8:68159000-68221400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr8:68162400-68231000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr8:68173600-68236400	Weak transcription	Stomach Mucosa	stomach
6	chr8:68174000-68225600	Weak transcription	Esophagus	oesophagus
7	chr8:68175000-68219400	Weak transcription	Right Ventricle	heart
8	chr8:68176000-68219800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:68179200-68221600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr8:68187200-68214000	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr8:68187800-68214200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr8:68193000-68218400	Weak transcription	Gastric	stomach
13	chr8:68195400-68214400	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr8:68195600-68214000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr8:68195600-68214200	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr8:68196000-68214200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr8:68196000-68214200	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr8:68196000-68214400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr8:68196000-68214400	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr8:68196400-68214400	Strong transcription	Primary T cells from cord blood	blood
21	chr8:68196400-68214400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr8:68196800-68214400	Strong transcription	Fetal Thymus	thymus
23	chr8:68196800-68214400	Strong transcription	Rectal Mucosa Donor 31	rectum
24	chr8:68197000-68214200	Strong transcription	Primary B cells from peripheral blood	blood
25	chr8:68197000-68215200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr8:68197600-68214400	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr8:68197800-68234200	Weak transcription	Aorta	Aorta
28	chr8:68198000-68214400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:68198400-68214000	Strong transcription	HUVEC	blood vessel
30	chr8:68199600-68219600	Weak transcription	Brain Cingulate Gyrus	brain
31	chr8:68199800-68218400	Weak transcription	Psoas Muscle	Psoas
32	chr8:68199800-68219600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr8:68199800-68219800	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr8:68200200-68219600	Weak transcription	Brain Angular Gyrus	brain
35	chr8:68202000-68214400	Strong transcription	Duodenum Mucosa	Duodenum
36	chr8:68202200-68214000	Strong transcription	Adipose Nuclei	Adipose
37	chr8:68202200-68214400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr8:68202400-68214400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr8:68204400-68219600	Weak transcription	NHLF	lung
40	chr8:68205600-68214000	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr8:68205600-68214400	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr8:68205800-68214000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr8:68207400-68214400	Strong transcription	Sigmoid Colon	Sigmoid Colon
44	chr8:68207800-68214400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr8:68208600-68214000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr8:68208600-68214400	Strong transcription	Lung	lung
47	chr8:68208600-68214400	Strong transcription	Ovary	ovary
48	chr8:68208800-68226000	Weak transcription	A549	lung
49	chr8:68209200-68214000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
50	chr8:68209200-68219000	Weak transcription	Left Ventricle	heart

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