Variant report

Variant	rs6750885
Chromosome Location	chr2:85585944-85585945
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	chr2:85579454..85586122-chr2:85763967..85769855,18	K562	blood:
2	chr2:85553921..85556680-chr2:85584954..85587217,2	K562	blood:

Variant related genes	Relation type
ENSG00000168906	Chromatin interaction
ENSG00000152291	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs58507836	1.00[AMR][1000 genomes]
rs6733827	1.00[AMR][1000 genomes]
rs6753341	1.00[AMR][1000 genomes]
rs72934684	1.00[AMR][1000 genomes]
rs72934693	1.00[AMR][1000 genomes]
rs72938587	1.00[AMR][1000 genomes]

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	nsv1005351	chr2:85242657-85774909	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	198 gene(s)	inside rSNPs	diseases
2	nsv535803	chr2:85242657-85774909	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	198 gene(s)	inside rSNPs	diseases
3	nsv834282	chr2:85464394-85641312	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:85582600-85592000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:85582800-85589200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:85582800-85589400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr2:85582800-85591000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr2:85582800-85591400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:85582800-85595800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr2:85582800-85604200	Weak transcription	Small Intestine	intestine
8	chr2:85582800-85607000	Weak transcription	Fetal Kidney	kidney
9	chr2:85582800-85611000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr2:85583000-85586000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
11	chr2:85583000-85586000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
12	chr2:85583000-85586200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:85583000-85586400	Strong transcription	Fetal Muscle Trunk	muscle
14	chr2:85583000-85586600	Strong transcription	A549	lung
15	chr2:85583000-85586800	Weak transcription	Left Ventricle	heart
16	chr2:85583000-85589200	Weak transcription	Thymus	Thymus
17	chr2:85583000-85589400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr2:85583000-85590200	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr2:85583000-85590200	Weak transcription	Rectal Smooth Muscle	rectum
20	chr2:85583000-85591000	Strong transcription	Placenta	Placenta
21	chr2:85583000-85591200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:85583000-85591200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:85583000-85591200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr2:85583000-85591800	Strong transcription	Fetal Stomach	stomach
25	chr2:85583000-85606600	Strong transcription	Fetal Muscle Leg	muscle
26	chr2:85583000-85610000	Weak transcription	Hela-S3	cervix
27	chr2:85583000-85616000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:85583000-85617200	Weak transcription	Stomach Mucosa	stomach
29	chr2:85583000-85621200	Weak transcription	NH-A	brain
30	chr2:85583200-85586000	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr2:85583200-85586000	Strong transcription	Rectal Mucosa Donor 31	rectum
32	chr2:85583200-85586000	Strong transcription	NHLF	lung
33	chr2:85583200-85586600	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr2:85583200-85587200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr2:85583200-85587200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr2:85583200-85587400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr2:85583200-85588400	Weak transcription	Colonic Mucosa	Colon
38	chr2:85583200-85589200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr2:85583200-85589400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr2:85583200-85591800	Strong transcription	Stomach Smooth Muscle	stomach
41	chr2:85583200-85594800	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr2:85583200-85619000	Weak transcription	Fetal Heart	heart
43	chr2:85583400-85586000	Strong transcription	Spleen	Spleen
44	chr2:85583400-85586000	Genic enhancers	Dnd41	blood
45	chr2:85583400-85587200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:85583400-85587200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
47	chr2:85583400-85587200	Strong transcription	Duodenum Mucosa	Duodenum
48	chr2:85583400-85590800	Strong transcription	Fetal Intestine Large	intestine
49	chr2:85583400-85591000	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr2:85583400-85619600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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