Variant report

Variant	rs374765771
Chromosome Location	chr18:9522198-9522199
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF263	chr18:9521958-9524049	HEK293-T-REx	kidney:	n/a	chr18:9522777-9522786
2	SETDB1	chr18:9521786-9522322	U2OS	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:9515412..9517227-chr18:9520655..9522238,2	K562	blood:
2	chr18:9516467..9518987-chr18:9520554..9522788,2	MCF-7	breast:
3	chr18:9518087..9520261-chr18:9521010..9523550,2	K562	blood:

Variant related genes	Relation type
RNU2-27P	TF binding region
ENSG00000251994	Chromatin interaction
ENSG00000273352	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 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
8	nsv978599	chr18:9522156-9522656	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9478000-9522400	Weak transcription	Hela-S3	cervix
2	chr18:9479000-9533200	Weak transcription	Aorta	Aorta
3	chr18:9479000-9533600	Weak transcription	Gastric	stomach
4	chr18:9495200-9530400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr18:9495200-9533600	Weak transcription	Right Ventricle	heart
6	chr18:9495400-9524000	Weak transcription	Spleen	Spleen
7	chr18:9495400-9534000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr18:9496800-9534000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr18:9497400-9532600	Weak transcription	Colonic Mucosa	Colon
10	chr18:9498400-9523200	Weak transcription	Esophagus	oesophagus
11	chr18:9499400-9525000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr18:9500800-9535000	Weak transcription	Fetal Heart	heart
13	chr18:9505200-9524600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr18:9506400-9522400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr18:9506800-9532000	Weak transcription	Pancreas	Pancrea
16	chr18:9508000-9522400	Weak transcription	Lung	lung
17	chr18:9508000-9522600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr18:9508000-9531600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr18:9508400-9522400	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr18:9508400-9522400	Weak transcription	Stomach Smooth Muscle	stomach
21	chr18:9508600-9525200	Weak transcription	Brain Germinal Matrix	brain
22	chr18:9508600-9531800	Weak transcription	Small Intestine	intestine
23	chr18:9509000-9522200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr18:9510800-9522200	Weak transcription	Fetal Lung	lung
25	chr18:9512200-9524600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr18:9512800-9524400	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr18:9513200-9524600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr18:9513200-9526600	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr18:9513200-9534000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr18:9513600-9537800	Weak transcription	Fetal Brain Male	brain
31	chr18:9514200-9522200	Weak transcription	Fetal Intestine Small	intestine
32	chr18:9514200-9522400	Weak transcription	HSMMtube	muscle
33	chr18:9514200-9523200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr18:9514400-9522600	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr18:9514400-9524000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr18:9514600-9524600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr18:9514600-9528800	Weak transcription	NH-A	brain
38	chr18:9514600-9530200	Weak transcription	Rectal Smooth Muscle	rectum
39	chr18:9515600-9526800	Weak transcription	A549	lung
40	chr18:9515800-9522400	Weak transcription	Fetal Kidney	kidney
41	chr18:9516200-9526800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr18:9516600-9522400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr18:9517400-9523600	Weak transcription	Osteobl	bone
44	chr18:9517600-9522200	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr18:9517600-9524400	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr18:9517600-9526400	Weak transcription	Brain Anterior Caudate	brain
47	chr18:9517800-9534000	Weak transcription	NHLF	lung
48	chr18:9518200-9522200	Weak transcription	Brain Hippocampus Middle	brain
49	chr18:9518200-9522200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr18:9518200-9522400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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