Variant report

Variant	rs329005
Chromosome Location	chr18:9524042-9524043
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:9504422..9506716-chr18:9523656..9525914,2	K562	blood:
2	chr18:9522836..9525187-chr18:9526714..9528521,2	K562	blood:

Variant related genes	Relation type
ENSG00000266805	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1561998	0.81[ASN][1000 genomes]
rs328996	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs329006	0.89[ASN][1000 genomes]
rs329007	0.89[ASN][1000 genomes]
rs329012	0.89[ASN][1000 genomes]
rs396650	0.83[ASN][1000 genomes]
rs7504852	0.81[ASN][1000 genomes]
rs8092935	0.89[ASN][1000 genomes]
rs8098663	0.82[ASN][1000 genomes]
rs9807644	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916373	chr18:9026803-9592201	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1056407	chr18:9144345-9553764	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv1062025	chr18:9287249-9552470	Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv543643	chr18:9287249-9552470	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv833585	chr18:9401630-9597291	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv428005	chr18:9401658-9542396	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats 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	25 gene(s)	inside rSNPs	diseases
7	esv3693417	chr18:9512985-9693638	Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9479000-9533200	Weak transcription	Aorta	Aorta
2	chr18:9479000-9533600	Weak transcription	Gastric	stomach
3	chr18:9495200-9530400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr18:9495200-9533600	Weak transcription	Right Ventricle	heart
5	chr18:9495400-9534000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr18:9496800-9534000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr18:9497400-9532600	Weak transcription	Colonic Mucosa	Colon
8	chr18:9499400-9525000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr18:9500800-9535000	Weak transcription	Fetal Heart	heart
10	chr18:9505200-9524600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr18:9506800-9532000	Weak transcription	Pancreas	Pancrea
12	chr18:9508000-9531600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr18:9508600-9525200	Weak transcription	Brain Germinal Matrix	brain
14	chr18:9508600-9531800	Weak transcription	Small Intestine	intestine
15	chr18:9512200-9524600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr18:9512800-9524400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr18:9513200-9524600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr18:9513200-9526600	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr18:9513200-9534000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr18:9513600-9537800	Weak transcription	Fetal Brain Male	brain
21	chr18:9514600-9524600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr18:9514600-9528800	Weak transcription	NH-A	brain
23	chr18:9514600-9530200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr18:9515600-9526800	Weak transcription	A549	lung
25	chr18:9516200-9526800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr18:9517600-9524400	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr18:9517600-9526400	Weak transcription	Brain Anterior Caudate	brain
28	chr18:9517800-9534000	Weak transcription	NHLF	lung
29	chr18:9518200-9528400	Weak transcription	HUVEC	blood vessel
30	chr18:9518200-9533600	Weak transcription	Brain Substantia Nigra	brain
31	chr18:9518400-9526400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr18:9518400-9526400	Weak transcription	NHEK	skin
33	chr18:9518400-9526800	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr18:9518600-9524800	Weak transcription	GM12878-XiMat	blood
35	chr18:9518800-9534400	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr18:9520000-9532000	Weak transcription	Colon Smooth Muscle	Colon
37	chr18:9520400-9524600	Weak transcription	Brain Angular Gyrus	brain
38	chr18:9520400-9534800	Weak transcription	Psoas Muscle	Psoas
39	chr18:9521200-9526800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr18:9521400-9527400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr18:9521400-9535000	Strong transcription	Fetal Muscle Leg	muscle
42	chr18:9521400-9541800	Strong transcription	Fetal Stomach	stomach
43	chr18:9521600-9525600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr18:9521600-9526800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr18:9521600-9526800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr18:9521600-9528600	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr18:9521600-9528800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr18:9521600-9540800	Strong transcription	Fetal Thymus	thymus
49	chr18:9521800-9525200	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr18:9521800-9525200	Strong transcription	Primary hematopoietic stem cells	blood

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