Variant report

Variant	rs935616
Chromosome Location	chr3:119112559-119112560
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:119111246..119112838-chr3:119114237..119115875,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs7430156	0.93[GIH][hapmap]
rs9840932	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[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	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv829694	chr3:119011488-119153579	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv3962	chr3:119094646-119135321	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs935616	SEC22A	cis	parietal	SCAN
rs935616	KTELC1	cis	cerebellum	SCAN

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119072000-119133800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr3:119072200-119114200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr3:119080000-119145600	Weak transcription	Fetal Kidney	kidney
4	chr3:119081200-119135600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr3:119081400-119114200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr3:119082800-119138000	Weak transcription	Small Intestine	intestine
7	chr3:119085200-119139000	Strong transcription	Cortex derived primary cultured neurospheres	brain
8	chr3:119088000-119134200	Weak transcription	NHDF-Ad	bronchial
9	chr3:119088200-119122400	Weak transcription	Brain Angular Gyrus	brain
10	chr3:119093000-119116200	Weak transcription	Psoas Muscle	Psoas
11	chr3:119094400-119119600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr3:119097000-119132600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr3:119097600-119120600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr3:119098000-119136800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr3:119098400-119138200	Strong transcription	Adipose Nuclei	Adipose
16	chr3:119098600-119137400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr3:119099000-119126200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr3:119099200-119120600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr3:119099600-119124800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr3:119099800-119114200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr3:119099800-119114200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr3:119100000-119115400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr3:119100000-119118200	Weak transcription	Fetal Heart	heart
24	chr3:119100000-119132600	Weak transcription	Primary B cells from cord blood	blood
25	chr3:119100200-119114600	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr3:119102600-119133200	Weak transcription	NHLF	lung
27	chr3:119102600-119134800	Weak transcription	Primary hematopoietic stem cells	blood
28	chr3:119103600-119112600	Weak transcription	HSMM	muscle
29	chr3:119103800-119118200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr3:119105400-119130000	Weak transcription	Fetal Brain Male	brain
31	chr3:119106400-119131200	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr3:119106800-119137400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr3:119107000-119114600	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr3:119107200-119123000	Strong transcription	HUVEC	blood vessel
35	chr3:119107600-119115000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr3:119108400-119113200	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr3:119108400-119113400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr3:119108400-119114600	Strong transcription	Left Ventricle	heart
39	chr3:119108400-119125600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr3:119108600-119112800	Strong transcription	Primary T cells from cord blood	blood
41	chr3:119108600-119113000	Strong transcription	Stomach Smooth Muscle	stomach
42	chr3:119108800-119113000	Strong transcription	Fetal Muscle Leg	muscle
43	chr3:119108800-119114800	Strong transcription	Right Ventricle	heart
44	chr3:119108800-119122800	Strong transcription	NH-A	brain
45	chr3:119109000-119113600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr3:119109000-119118200	Strong transcription	Placenta	Placenta
47	chr3:119109200-119113200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr3:119109200-119114200	Strong transcription	Fetal Lung	lung
49	chr3:119109200-119114800	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr3:119109200-119136400	Weak transcription	Skeletal Muscle Female	skeletal muscle

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