Variant report

Variant	rs11640950
Chromosome Location	chr16:30426001-30426002
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:30133035..30135349-chr16:30425863..30428832,2	MCF-7	breast:
2	chr16:30124184..30126989-chr16:30425859..30428488,3	K562	blood:
3	chr16:30425958..30428339-chr16:30429435..30431595,3	K562	blood:
4	chr16:30382519..30385051-chr16:30425815..30427953,2	K562	blood:
5	chr16:30365041..30367245-chr16:30423738..30426324,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000180209	Chromatin interaction
ENSG00000260219	Chromatin interaction
ENSG00000199787	Chromatin interaction
ENSG00000169217	Chromatin interaction
ENSG00000102882	Chromatin interaction
ENSG00000102886	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11150586	0.82[ASN][1000 genomes]
rs12447833	0.91[AFR][1000 genomes]
rs35598865	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4465620	1.00[ASN][1000 genomes]
rs4788413	0.91[AFR][1000 genomes]
rs4788414	0.86[ASN][1000 genomes]
rs7203359	0.91[AFR][1000 genomes]
rs8045252	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8045570	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065915	chr16:29967090-30486120	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	229 gene(s)	inside rSNPs	diseases
2	nsv542897	chr16:29967090-30486120	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	229 gene(s)	inside rSNPs	diseases
3	nsv1056897	chr16:30363683-30457504	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	88 gene(s)	inside rSNPs	diseases
4	nsv905724	chr16:30368591-30438930	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
5	nsv532531	chr16:30370550-30581820	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
6	nsv827612	chr16:30371538-30429862	Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11640950	IMAA///LOC440345///LOC440354///LOC595101///	N/A	lymphoblastoid	RTeQTL
rs11640950	BOLA2///LOC440354///LOC595101	N/A	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30419200-30428800	Weak transcription	Small Intestine	intestine
2	chr16:30419600-30428600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr16:30419800-30428600	Weak transcription	Esophagus	oesophagus
4	chr16:30419800-30428800	Weak transcription	Gastric	stomach
5	chr16:30420000-30428800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr16:30421000-30427000	Weak transcription	GM12878-XiMat	blood
7	chr16:30421000-30428200	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr16:30421000-30428400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr16:30421200-30428200	Weak transcription	Primary B cells from cord blood	blood
10	chr16:30421200-30428200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr16:30421200-30428200	Weak transcription	Fetal Brain Male	brain
12	chr16:30421200-30428200	Weak transcription	Placenta	Placenta
13	chr16:30421200-30428200	Weak transcription	Spleen	Spleen
14	chr16:30421200-30428200	Weak transcription	NHDF-Ad	bronchial
15	chr16:30421200-30428400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr16:30421200-30428400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr16:30421200-30428400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr16:30421200-30428600	Weak transcription	Colonic Mucosa	Colon
19	chr16:30421200-30437600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr16:30421200-30437600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr16:30421400-30428200	Weak transcription	Primary B cells from peripheral blood	blood
22	chr16:30421400-30428200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr16:30421400-30428200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr16:30421400-30428200	Weak transcription	Colon Smooth Muscle	Colon
25	chr16:30421400-30428200	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr16:30421400-30428400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr16:30421400-30428400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr16:30421400-30428400	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr16:30421400-30428600	Weak transcription	Hela-S3	cervix
30	chr16:30421400-30428800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr16:30421600-30426400	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr16:30422000-30428400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr16:30422000-30428600	Weak transcription	Stomach Mucosa	stomach
34	chr16:30422200-30428200	Strong transcription	Fetal Stomach	stomach
35	chr16:30423200-30428600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr16:30423400-30428200	Weak transcription	Fetal Brain Female	brain
37	chr16:30423400-30428400	Weak transcription	Fetal Lung	lung
38	chr16:30423400-30428600	Weak transcription	Fetal Kidney	kidney
39	chr16:30423400-30428600	Weak transcription	Right Ventricle	heart
40	chr16:30423600-30427400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr16:30423600-30428200	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr16:30423600-30428200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr16:30423600-30428400	Weak transcription	HUVEC	blood vessel
44	chr16:30423600-30428600	Weak transcription	Aorta	Aorta
45	chr16:30423600-30428600	Weak transcription	HMEC	breast
46	chr16:30423800-30428000	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr16:30423800-30428400	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr16:30423800-30428400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr16:30423800-30428400	Weak transcription	Brain Cingulate Gyrus	brain
50	chr16:30423800-30428400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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