Variant report

Variant	rs17288411
Chromosome Location	chr6:45405134-45405135
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:45403577..45407385-chr6:45411377..45414376,7	K562	blood:
2	chr6:45342387..45347008-chr6:45403451..45407825,6	K562	blood:
3	chr6:45343327..45346622-chr6:45403898..45406831,3	K562	blood:
4	chr6:45395765..45397797-chr6:45403659..45406189,2	K562	blood:
5	chr6:45404085..45406503-chr6:45408205..45409935,3	K562	blood:
6	chr6:45404679..45406286-chr6:45420407..45423168,2	K562	blood:

Variant related genes	Relation type
ENSG00000196284	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs7750266	1.00[CHB][hapmap]
rs7754227	1.00[CHB][hapmap]
rs9463097	1.00[CHB][hapmap]

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	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45392400-45406800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:45394400-45413200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:45397400-45405400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr6:45399400-45423600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr6:45399800-45410600	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr6:45400000-45406600	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr6:45400200-45405800	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr6:45400200-45409600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr6:45401200-45406600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr6:45401400-45407200	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr6:45402000-45413200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr6:45403000-45410600	Enhancers	Fetal Thymus	thymus
13	chr6:45403400-45405400	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr6:45403400-45405600	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr6:45403400-45408400	Enhancers	K562	blood
16	chr6:45403600-45405200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr6:45403800-45405400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr6:45403800-45407400	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr6:45403800-45407800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr6:45403800-45413200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr6:45404000-45405400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr6:45404000-45405400	Enhancers	HUVEC	blood vessel
23	chr6:45404000-45406600	Enhancers	HSMMtube	muscle
24	chr6:45404000-45407600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr6:45404000-45408000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr6:45404200-45405200	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr6:45404200-45405400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr6:45404200-45405400	Flanking Active TSS	Osteobl	bone
29	chr6:45404200-45405600	Enhancers	Primary B cells from cord blood	blood
30	chr6:45404200-45405600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr6:45404200-45405600	Enhancers	Brain Hippocampus Middle	brain
32	chr6:45404200-45405600	Enhancers	A549	lung
33	chr6:45404200-45405800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr6:45404200-45406000	Enhancers	Primary T cells from cord blood	blood
35	chr6:45404200-45406000	Enhancers	Fetal Kidney	kidney
36	chr6:45404200-45406200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr6:45404200-45406200	Enhancers	Adipose Nuclei	Adipose
38	chr6:45404200-45406200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr6:45404200-45406600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr6:45404200-45407200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr6:45404200-45407400	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr6:45404200-45407600	Enhancers	Hela-S3	cervix
43	chr6:45404400-45405200	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr6:45404400-45405200	Enhancers	Thymus	Thymus
45	chr6:45404400-45405400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr6:45404400-45405400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr6:45404400-45405400	Flanking Active TSS	NH-A	brain
48	chr6:45404400-45405600	Enhancers	Colon Smooth Muscle	Colon
49	chr6:45404400-45405600	Weak transcription	Fetal Intestine Large	intestine
50	chr6:45404400-45405600	Flanking Active TSS	NHDF-Ad	bronchial

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