Variant report

Variant	rs16985679
Chromosome Location	chr22:28281006-28281007
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:28279841..28281808-chr22:28384681..28387461,2	K562	blood:
2	chr22:28278788..28281432-chr22:28313283..28315949,2	MCF-7	breast:
3	chr22:28279056..28281403-chr22:28286781..28288906,2	K562	blood:

Variant related genes	Relation type
ENSG00000180957	Chromatin interaction
ENSG00000100154	Chromatin interaction
ENSG00000235954	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11090518	0.80[YRI][hapmap]
rs16985697	0.80[YRI][hapmap]
rs926468	0.80[YRI][hapmap]
rs9306450	0.80[YRI][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	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv588878	chr22:28248840-28314113	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28247000-28311800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr22:28270000-28283200	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr22:28270400-28281200	Weak transcription	K562	blood
4	chr22:28273200-28284800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr22:28273200-28287000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr22:28273800-28283800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr22:28274000-28284200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr22:28276000-28283400	Enhancers	Colon Smooth Muscle	Colon
9	chr22:28277200-28291000	Strong transcription	GM12878-XiMat	blood
10	chr22:28277200-28308600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr22:28277400-28300600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr22:28277600-28281800	Strong transcription	HSMM	muscle
13	chr22:28277600-28281800	Strong transcription	Osteobl	bone
14	chr22:28277600-28282200	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr22:28277600-28284400	Weak transcription	Stomach Mucosa	stomach
16	chr22:28277800-28282000	Strong transcription	NHEK	skin
17	chr22:28277800-28282200	Weak transcription	Fetal Brain Male	brain
18	chr22:28277800-28283200	Weak transcription	Psoas Muscle	Psoas
19	chr22:28277800-28308400	Strong transcription	Dnd41	blood
20	chr22:28278200-28287000	Weak transcription	Small Intestine	intestine
21	chr22:28278400-28281400	Strong transcription	Muscle Satellite Cultured Cells	--
22	chr22:28278400-28298800	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr22:28278400-28299000	Strong transcription	Primary B cells from peripheral blood	blood
24	chr22:28278600-28299000	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr22:28278600-28299600	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr22:28278600-28299800	Strong transcription	Primary T cells from cord blood	blood
27	chr22:28278600-28300600	Strong transcription	Fetal Muscle Leg	muscle
28	chr22:28278800-28281400	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr22:28279000-28282200	Weak transcription	Brain Cingulate Gyrus	brain
30	chr22:28279000-28283200	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr22:28279000-28299600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr22:28279000-28300000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr22:28279200-28284800	Weak transcription	Brain Angular Gyrus	brain
34	chr22:28279200-28287000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr22:28279400-28298400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr22:28279600-28281200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr22:28279600-28281800	Strong transcription	NH-A	brain
38	chr22:28279600-28282200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr22:28279600-28282200	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr22:28279600-28284200	Weak transcription	Fetal Brain Female	brain
41	chr22:28279600-28298400	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr22:28279600-28298600	Strong transcription	Primary B cells from cord blood	blood
43	chr22:28279600-28299000	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr22:28279800-28281800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr22:28279800-28282000	Weak transcription	Brain Substantia Nigra	brain
46	chr22:28279800-28282200	Weak transcription	Brain Anterior Caudate	brain
47	chr22:28279800-28282200	Strong transcription	A549	lung
48	chr22:28279800-28282200	Strong transcription	Hela-S3	cervix
49	chr22:28279800-28282400	Weak transcription	Fetal Heart	heart
50	chr22:28279800-28282400	Strong transcription	Fetal Intestine Large	intestine

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