Variant report

Variant	rs9942116
Chromosome Location	chr3:136349222-136349223
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:136347991..136350504-chr3:136357801..136360189,2	K562	blood:
2	chr3:136346602..136349491-chr3:136356349..136359301,2	K562	blood:
3	chr3:136347675..136349968-chr3:136351726..136353562,2	K562	blood:
4	chr3:136347675..136350642-chr3:136351726..136354296,2	K562	blood:

Variant related genes	Relation type
ENSG00000251708	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs56183552	0.91[AMR][1000 genomes]
rs58021491	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs58206781	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs59554065	0.82[AMR][1000 genomes]
rs6773054	0.81[ASW][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.88[YRI][hapmap];0.91[AMR][1000 genomes]
rs73863630	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs73863634	0.91[AMR][1000 genomes]
rs73863640	0.91[AMR][1000 genomes]
rs73863911	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs73863952	0.82[AMR][1000 genomes]
rs7635059	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs7640942	0.91[AMR][1000 genomes]
rs7646127	0.81[ASW][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.88[YRI][hapmap];0.91[AMR][1000 genomes]
rs7646563	0.80[LWK][hapmap]
rs7646723	0.81[LWK][hapmap];0.82[MKK][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948461	chr3:135969755-136349636	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv460861	chr3:136222954-136425600	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv591851	chr3:136222954-136425600	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:136268200-136351200	Weak transcription	Esophagus	oesophagus
2	chr3:136290000-136351600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr3:136297200-136351200	Weak transcription	Pancreas	Pancrea
4	chr3:136298600-136351600	Weak transcription	HSMM	muscle
5	chr3:136300200-136351200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:136308000-136357400	Weak transcription	Lung	lung
7	chr3:136315400-136356400	Weak transcription	Brain Anterior Caudate	brain
8	chr3:136315800-136355600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr3:136315800-136361000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr3:136316000-136364400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr3:136320800-136356800	Weak transcription	Ovary	ovary
12	chr3:136322200-136355200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr3:136323400-136362000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr3:136324200-136363600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr3:136327400-136357400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr3:136328000-136350200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr3:136328000-136351200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr3:136331800-136349400	Weak transcription	NHDF-Ad	bronchial
19	chr3:136331800-136350000	Weak transcription	NHLF	lung
20	chr3:136335600-136349800	Weak transcription	Osteobl	bone
21	chr3:136335600-136350600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr3:136335600-136357400	Weak transcription	Psoas Muscle	Psoas
23	chr3:136335800-136350200	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr3:136336200-136364800	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr3:136336400-136350200	Weak transcription	Gastric	stomach
26	chr3:136336400-136351400	Weak transcription	Right Ventricle	heart
27	chr3:136338400-136349800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr3:136338800-136355600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr3:136339000-136350200	Weak transcription	Fetal Stomach	stomach
30	chr3:136341200-136350000	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr3:136342200-136355600	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr3:136343600-136351600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr3:136344200-136349800	Weak transcription	HSMMtube	muscle
34	chr3:136344400-136349400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr3:136344400-136351000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr3:136344600-136349600	Weak transcription	Colonic Mucosa	Colon
37	chr3:136344600-136350000	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr3:136344600-136350200	Weak transcription	HepG2	liver
39	chr3:136344600-136350800	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr3:136344600-136351200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr3:136344600-136351200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr3:136344600-136355600	Weak transcription	Fetal Kidney	kidney
43	chr3:136345200-136350000	Weak transcription	Placenta	Placenta
44	chr3:136345200-136352200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr3:136345400-136349800	Strong transcription	Dnd41	blood
46	chr3:136345800-136350200	Weak transcription	K562	blood
47	chr3:136345800-136364000	Weak transcription	Small Intestine	intestine
48	chr3:136346000-136351200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr3:136346000-136351400	Weak transcription	Stomach Mucosa	stomach
50	chr3:136346000-136351800	Weak transcription	Rectal Mucosa Donor 29	rectum

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