Variant report

Variant	rs11993595
Chromosome Location	chr8:86108536-86108537
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:86088335..86091633-chr8:86107485..86113075,5	MCF-7	breast:
2	chr8:86106829..86109300-chr8:86133034..86134778,2	K562	blood:

Variant related genes	Relation type
ENSG00000254208	Chromatin interaction
ENSG00000185015	Chromatin interaction
ENSG00000260493	Chromatin interaction
ENSG00000133740	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11984876	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs11988348	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs11991103	1.00[AFR][1000 genomes]
rs11991468	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs11994390	1.00[AFR][1000 genomes]
rs11994774	0.90[AFR][1000 genomes]
rs11998639	0.90[AFR][1000 genomes]
rs11998727	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3481417	chr8:85279453-86145229	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv3481418	chr8:85279453-86145229	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv971329	chr8:86094967-86183119	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86090800-86127800	Weak transcription	Aorta	Aorta
2	chr8:86091000-86127800	Weak transcription	HSMMtube	muscle
3	chr8:86091000-86132000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:86091200-86125200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:86091600-86110000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr8:86091600-86124200	Weak transcription	Primary T cells from cord blood	blood
7	chr8:86091600-86126000	Weak transcription	Hela-S3	cervix
8	chr8:86091800-86124200	Weak transcription	HMEC	breast
9	chr8:86096200-86121400	Weak transcription	Fetal Lung	lung
10	chr8:86096400-86121400	Weak transcription	A549	lung
11	chr8:86096600-86120600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:86096800-86109600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr8:86096800-86113000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr8:86098000-86112800	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr8:86100400-86121400	Weak transcription	Fetal Intestine Large	intestine
16	chr8:86101000-86122600	Weak transcription	Fetal Intestine Small	intestine
17	chr8:86101000-86124600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr8:86101000-86127800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:86101200-86127800	Weak transcription	Spleen	Spleen
20	chr8:86101200-86131000	Weak transcription	HepG2	liver
21	chr8:86102600-86108800	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr8:86102600-86108800	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr8:86102600-86112800	Weak transcription	Stomach Smooth Muscle	stomach
24	chr8:86102600-86113600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr8:86102600-86121000	Weak transcription	Fetal Muscle Leg	muscle
26	chr8:86102600-86121600	Weak transcription	Dnd41	blood
27	chr8:86102600-86125000	Weak transcription	Fetal Stomach	stomach
28	chr8:86102600-86125200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr8:86102600-86128200	Weak transcription	Fetal Brain Male	brain
30	chr8:86102800-86112800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr8:86103200-86113000	Weak transcription	Fetal Thymus	thymus
32	chr8:86103200-86118400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr8:86103200-86120800	Weak transcription	Fetal Muscle Trunk	muscle
34	chr8:86103600-86108600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr8:86104000-86113200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:86106000-86108800	Enhancers	Primary B cells from cord blood	blood
37	chr8:86106000-86110000	Weak transcription	GM12878-XiMat	blood
38	chr8:86106000-86112800	Weak transcription	Right Ventricle	heart
39	chr8:86106000-86120800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr8:86106200-86112800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr8:86107200-86112400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr8:86107800-86108600	Enhancers	Primary hematopoietic stem cells	blood
43	chr8:86107800-86110400	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr8:86108000-86110000	Genic enhancers	Primary B cells from peripheral blood	blood
45	chr8:86108000-86112800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr8:86108000-86114200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr8:86108200-86121400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr8:86108400-86108600	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr8:86108400-86110600	Enhancers	HUES48 Cell Line	embryonic stem cell

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