Variant report

Variant	rs2022420
Chromosome Location	chr6:45980719-45980720
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:45980539..45983062-chr6:45983993..45986730,2	K562	blood:
2	chr6:45978565..45981449-chr6:45989773..45991611,2	K562	blood:

Variant related genes	Relation type
ENSG00000212468	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1338468	1.00[EUR][1000 genomes]
rs58075690	1.00[EUR][1000 genomes]
rs73454889	1.00[EUR][1000 genomes]
rs73735485	1.00[EUR][1000 genomes]
rs73735486	1.00[EUR][1000 genomes]
rs73735487	1.00[EUR][1000 genomes]
rs73735489	1.00[EUR][1000 genomes]
rs73738315	1.00[EUR][1000 genomes]
rs73738316	1.00[EUR][1000 genomes]
rs7760252	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532024	chr6:45475088-45982640	Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv428482	chr6:45926644-46050182	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv885867	chr6:45936223-45982976	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1025846	chr6:45955173-46047269	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45973200-45981600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:45976000-45981400	Enhancers	Psoas Muscle	Psoas
3	chr6:45978000-45980800	Enhancers	Small Intestine	intestine
4	chr6:45978600-45981600	Enhancers	Fetal Intestine Small	intestine
5	chr6:45979200-45981600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr6:45979200-45981600	Weak transcription	Lung	lung
7	chr6:45979200-45984000	Active TSS	Right Atrium	heart
8	chr6:45979400-45981200	Weak transcription	Right Ventricle	heart
9	chr6:45979400-45981600	Enhancers	Primary T cells fromperipheralblood	blood
10	chr6:45979400-45982000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr6:45979400-45982200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr6:45979400-45982200	Weak transcription	Spleen	Spleen
13	chr6:45979600-45980800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr6:45979600-45980800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr6:45979600-45981600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr6:45979600-45981600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr6:45979600-45982200	Enhancers	Primary T cells from cord blood	blood
18	chr6:45979600-45982400	Enhancers	Hela-S3	cervix
19	chr6:45979800-45980800	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr6:45979800-45980800	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr6:45979800-45980800	Weak transcription	Left Ventricle	heart
22	chr6:45979800-45980800	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr6:45979800-45981000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr6:45979800-45981200	Weak transcription	Placenta	Placenta
25	chr6:45979800-45981600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr6:45979800-45981600	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr6:45979800-45981600	Weak transcription	Adipose Nuclei	Adipose
28	chr6:45979800-45981800	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr6:45979800-45981800	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr6:45979800-45982000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr6:45979800-45982200	Weak transcription	Duodenum Mucosa	Duodenum
32	chr6:45980000-45981400	Weak transcription	Colonic Mucosa	Colon
33	chr6:45980000-45981600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr6:45980000-45981600	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr6:45980000-45981800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr6:45980200-45981400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr6:45980200-45981600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr6:45980200-45981800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr6:45980200-45982200	Weak transcription	Primary B cells from peripheral blood	blood
40	chr6:45980200-45983800	Active TSS	Fetal Kidney	kidney
41	chr6:45980400-45981400	Weak transcription	Fetal Intestine Large	intestine
42	chr6:45980400-45981600	Enhancers	Fetal Heart	heart
43	chr6:45980400-45981800	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr6:45980600-45981000	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr6:45980600-45981200	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr6:45980600-45981600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
47	chr6:45980600-45981600	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr6:45980600-45982400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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