Variant report

Variant	rs3750441
Chromosome Location	chr9:94800690-94800691
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1573979	0.89[ASN][1000 genomes]
rs16908129	1.00[ASN][1000 genomes]
rs16908147	0.92[ASN][1000 genomes]
rs1954599	0.83[ASN][1000 genomes]
rs2186091	1.00[ASN][1000 genomes]
rs2297569	0.94[ASN][1000 genomes]
rs59394638	0.86[ASN][1000 genomes]
rs60066947	0.86[ASN][1000 genomes]
rs7033261	0.83[ASN][1000 genomes]
rs7038822	0.83[ASN][1000 genomes]
rs7851545	0.83[ASN][1000 genomes]
rs7854552	0.86[ASN][1000 genomes]
rs7854566	0.86[ASN][1000 genomes]
rs7854742	0.86[ASN][1000 genomes]
rs7866630	1.00[ASN][1000 genomes]
rs7876056	1.00[ASN][1000 genomes]
rs9696921	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949008	chr9:94500776-95182133	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1050845	chr9:94687959-95312406	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv1046733	chr9:94690622-95138564	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv831653	chr9:94692454-94867542	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv530947	chr9:94697309-95093377	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv982320	chr9:94799706-94821700	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94791200-94804400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr9:94791400-94805400	Weak transcription	Psoas Muscle	Psoas
3	chr9:94792200-94801000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr9:94792200-94804000	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr9:94792400-94801000	Strong transcription	Rectal Mucosa Donor 29	rectum
6	chr9:94792400-94801200	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr9:94792400-94801800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr9:94792600-94801200	Strong transcription	Liver	Liver
9	chr9:94792800-94802000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr9:94792800-94802400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr9:94792800-94804400	Strong transcription	Primary T helper cells PMA-I stimulated	--
12	chr9:94793000-94803200	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr9:94793200-94804200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr9:94793400-94801200	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr9:94793400-94801400	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr9:94793600-94801000	Strong transcription	Rectal Mucosa Donor 31	rectum
17	chr9:94793600-94802200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr9:94793600-94804200	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr9:94793600-94805400	Weak transcription	Small Intestine	intestine
20	chr9:94793800-94801400	Strong transcription	Fetal Muscle Trunk	muscle
21	chr9:94794000-94801600	Strong transcription	Primary B cells from cord blood	blood
22	chr9:94794200-94801000	Strong transcription	Brain Hippocampus Middle	brain
23	chr9:94794200-94801000	Strong transcription	Skeletal Muscle Male	skeletal muscle
24	chr9:94794200-94801000	Strong transcription	Skeletal Muscle Female	skeletal muscle
25	chr9:94794200-94801200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr9:94794200-94801200	Strong transcription	GM12878-XiMat	blood
27	chr9:94794200-94801400	Strong transcription	NHEK	skin
28	chr9:94794200-94801600	Strong transcription	Osteobl	bone
29	chr9:94794200-94804600	Weak transcription	Fetal Heart	heart
30	chr9:94794400-94801000	Strong transcription	Fetal Brain Female	brain
31	chr9:94794400-94801200	Strong transcription	Primary B cells from peripheral blood	blood
32	chr9:94794400-94802200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr9:94794600-94801000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr9:94794600-94801000	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr9:94794600-94801000	Strong transcription	Brain Anterior Caudate	brain
36	chr9:94794600-94801000	Strong transcription	Brain Inferior Temporal Lobe	brain
37	chr9:94794600-94801000	Strong transcription	Fetal Intestine Large	intestine
38	chr9:94794600-94801000	Strong transcription	Pancreas	Pancrea
39	chr9:94794600-94801000	Strong transcription	Thymus	Thymus
40	chr9:94794600-94801000	Strong transcription	Spleen	Spleen
41	chr9:94794600-94801200	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr9:94794600-94801200	Strong transcription	H9 Cell Line	embryonic stem cell
43	chr9:94794600-94801200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr9:94794600-94801200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr9:94794600-94801200	Strong transcription	Aorta	Aorta
46	chr9:94794600-94801200	Strong transcription	Brain Germinal Matrix	brain
47	chr9:94794600-94801200	Strong transcription	Gastric	stomach
48	chr9:94794600-94801200	Strong transcription	Left Ventricle	heart
49	chr9:94794600-94801200	Strong transcription	Dnd41	blood
50	chr9:94794600-94801400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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