Variant report

Variant	rs12335605
Chromosome Location	chr9:5935770-5935771
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs7022080	1.00[YRI][hapmap];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017103	chr9:5509431-5987907	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv539965	chr9:5509431-5987907	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv948847	chr9:5712626-6417677	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv1031086	chr9:5806949-6630686	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv539967	chr9:5806949-6630686	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv892155	chr9:5825768-6044937	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv892156	chr9:5892375-6011757	Weak transcription Genic enhancers Strong transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv1015450	chr9:5915640-6114652	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
9	nsv613204	chr9:5931216-5971977	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:5898400-5947200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr9:5919000-5939800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr9:5920800-5938800	Weak transcription	Small Intestine	intestine
4	chr9:5921200-5939800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr9:5921200-5950400	Weak transcription	Psoas Muscle	Psoas
6	chr9:5922000-5941600	Weak transcription	HSMMtube	muscle
7	chr9:5922200-5935800	Weak transcription	Colon Smooth Muscle	Colon
8	chr9:5922400-5939800	Weak transcription	Gastric	stomach
9	chr9:5922600-5947000	Weak transcription	Fetal Heart	heart
10	chr9:5923000-5936200	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr9:5923000-5945200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr9:5923000-5969000	Weak transcription	Fetal Stomach	stomach
13	chr9:5923200-5935800	Weak transcription	HUVEC	blood vessel
14	chr9:5923200-5938800	Weak transcription	Right Ventricle	heart
15	chr9:5923200-5939000	Weak transcription	Lung	lung
16	chr9:5923200-5939600	Weak transcription	Brain Angular Gyrus	brain
17	chr9:5923200-5943000	Weak transcription	Esophagus	oesophagus
18	chr9:5923200-5947600	Weak transcription	Fetal Kidney	kidney
19	chr9:5923200-5949200	Weak transcription	NHLF	lung
20	chr9:5923200-5968200	Weak transcription	Fetal Muscle Leg	muscle
21	chr9:5923200-5971800	Weak transcription	NHEK	skin
22	chr9:5923200-5972400	Weak transcription	Aorta	Aorta
23	chr9:5923400-5935800	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr9:5923400-5939400	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr9:5923400-5939600	Weak transcription	Brain Cingulate Gyrus	brain
26	chr9:5924600-5939600	Weak transcription	Brain Hippocampus Middle	brain
27	chr9:5924600-5942600	Weak transcription	Brain Germinal Matrix	brain
28	chr9:5924600-5945200	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr9:5924600-5946800	Weak transcription	Brain Substantia Nigra	brain
30	chr9:5924600-5949200	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr9:5924600-5967400	Weak transcription	Brain Anterior Caudate	brain
32	chr9:5924600-5968600	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr9:5924600-5977000	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr9:5924600-5977000	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr9:5924800-5937800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr9:5924800-5942000	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr9:5924800-5967600	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr9:5925000-5936000	Weak transcription	Primary B cells from peripheral blood	blood
39	chr9:5925200-5949200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr9:5925200-5968400	Weak transcription	Fetal Muscle Trunk	muscle
41	chr9:5925400-5936200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr9:5926200-5952000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr9:5926800-5972600	Weak transcription	Fetal Intestine Small	intestine
44	chr9:5927400-5947800	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr9:5927600-5949000	Weak transcription	Primary T cells from cord blood	blood
46	chr9:5928000-5949200	Weak transcription	Ovary	ovary
47	chr9:5928400-5942400	Weak transcription	Fetal Brain Female	brain
48	chr9:5929000-5936200	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr9:5929000-5937400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr9:5929000-5944800	Weak transcription	GM12878-XiMat	blood

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