Variant report

Variant	rs16962681
Chromosome Location	chr18:29642550-29642551
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:29641006..29643778-chr18:29670687..29672553,2	K562	blood:

Variant related genes	Relation type
ENSG00000134758	Chromatin interaction
ENSG00000265008	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10221323	1.00[ASN][1000 genomes]
rs10468830	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12327088	1.00[ASN][1000 genomes]
rs12965536	1.00[CHB][hapmap]
rs13381543	1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13381673	1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16962626	1.00[ASN][1000 genomes]
rs17663379	1.00[ASN][1000 genomes]
rs2421180	1.00[ASN][1000 genomes]
rs28549720	1.00[ASN][1000 genomes]
rs56028245	1.00[ASN][1000 genomes]
rs57224930	1.00[ASN][1000 genomes]
rs62093910	1.00[ASN][1000 genomes]
rs62093935	1.00[ASN][1000 genomes]
rs62093936	1.00[ASN][1000 genomes]
rs62093938	1.00[ASN][1000 genomes]
rs62093944	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061305	chr18:29609935-29664528	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	esv2757673	chr18:29632749-29674992	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv2758719	chr18:29632749-29674992	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1064505	chr18:29637586-29659148	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29602600-29664200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr18:29604600-29656000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr18:29615200-29648400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr18:29618400-29646800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr18:29618600-29642800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr18:29619400-29645400	Weak transcription	Fetal Stomach	stomach
7	chr18:29626000-29657200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr18:29630000-29646600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr18:29630000-29664400	Weak transcription	Fetal Muscle Leg	muscle
10	chr18:29630200-29646400	Weak transcription	Primary B cells from peripheral blood	blood
11	chr18:29630400-29646600	Weak transcription	Duodenum Mucosa	Duodenum
12	chr18:29630400-29650800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr18:29630400-29664400	Weak transcription	Left Ventricle	heart
14	chr18:29630800-29658600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr18:29631400-29671400	Weak transcription	Hela-S3	cervix
16	chr18:29635200-29650600	Weak transcription	Lung	lung
17	chr18:29635600-29644600	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr18:29635600-29646400	Weak transcription	Adipose Nuclei	Adipose
19	chr18:29635600-29646600	Weak transcription	Fetal Thymus	thymus
20	chr18:29637000-29646600	Weak transcription	Fetal Intestine Large	intestine
21	chr18:29637200-29646800	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr18:29638000-29644000	Weak transcription	Fetal Intestine Small	intestine
23	chr18:29638000-29644400	Weak transcription	Right Atrium	heart
24	chr18:29638000-29652200	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr18:29638000-29652200	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr18:29639600-29645200	Weak transcription	Liver	Liver
27	chr18:29640200-29642600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr18:29640200-29643600	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr18:29640200-29645800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr18:29640400-29642600	Strong transcription	Primary T cells from cord blood	blood
31	chr18:29640400-29644400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr18:29640400-29646400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr18:29640400-29651600	Weak transcription	Spleen	Spleen
34	chr18:29640400-29652400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr18:29640400-29664400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr18:29640400-29664600	Weak transcription	Thymus	Thymus
37	chr18:29640600-29651800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr18:29640600-29664600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr18:29641400-29644000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
40	chr18:29641800-29643800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr18:29641800-29644000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr18:29641800-29645000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr18:29641800-29647200	Weak transcription	Primary hematopoietic stem cells	blood
44	chr18:29641800-29647800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr18:29642200-29643600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr18:29642200-29644000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr18:29642200-29644200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr18:29642200-29644600	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr18:29642200-29646000	Weak transcription	Primary B cells from cord blood	blood
50	chr18:29642200-29651200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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