Variant report

Variant	rs6784494
Chromosome Location	chr3:100066628-100066629
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:100057175..100060153-chr3:100065543..100067180,2	K562	blood:
2	chr3:100062699..100065082-chr3:100066080..100068778,2	K562	blood:
3	chr3:100064881..100067551-chr3:100115923..100118439,2	MCF-7	breast:
4	chr3:100057791..100061321-chr3:100063708..100069038,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000114021	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1036769	0.95[ASN][1000 genomes]
rs11711112	0.97[ASN][1000 genomes]
rs1214374	0.97[ASN][1000 genomes]
rs12696105	0.97[ASN][1000 genomes]
rs2289503	0.95[ASN][1000 genomes]
rs2289504	0.95[ASN][1000 genomes]
rs277621	1.00[ASN][1000 genomes]
rs277627	0.85[ASN][1000 genomes]
rs277631	0.97[ASN][1000 genomes]
rs277640	0.97[ASN][1000 genomes]
rs277646	0.97[ASN][1000 genomes]
rs277648	1.00[ASN][1000 genomes]
rs277649	1.00[ASN][1000 genomes]
rs378535	0.81[ASN][1000 genomes]
rs421855	0.97[ASN][1000 genomes]
rs4928171	0.97[ASN][1000 genomes]
rs6781422	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916476	chr3:99478229-100124625	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv1003924	chr3:99933762-100112690	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS 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	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:100054200-100081000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:100054400-100067600	Weak transcription	Psoas Muscle	Psoas
3	chr3:100054600-100102600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr3:100054800-100067200	Weak transcription	Esophagus	oesophagus
5	chr3:100054800-100067400	Weak transcription	Small Intestine	intestine
6	chr3:100054800-100067600	Weak transcription	Colonic Mucosa	Colon
7	chr3:100054800-100068600	Weak transcription	Pancreas	Pancrea
8	chr3:100054800-100069000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr3:100054800-100081000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr3:100054800-100097200	Weak transcription	Stomach Mucosa	stomach
11	chr3:100054800-100102200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr3:100055000-100068200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr3:100055000-100068600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr3:100055000-100082400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr3:100055200-100068200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr3:100055200-100071000	Weak transcription	HepG2	liver
17	chr3:100057000-100069200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr3:100057000-100069600	Strong transcription	Dnd41	blood
19	chr3:100057200-100066800	Strong transcription	HSMM	muscle
20	chr3:100057200-100069200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr3:100057200-100069600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr3:100057400-100069600	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr3:100057600-100069200	Strong transcription	Stomach Smooth Muscle	stomach
24	chr3:100057600-100069600	Strong transcription	Primary B cells from peripheral blood	blood
25	chr3:100057600-100069600	Strong transcription	Adipose Nuclei	Adipose
26	chr3:100057800-100069600	Strong transcription	Duodenum Smooth Muscle	Duodenum
27	chr3:100057800-100071400	Weak transcription	Fetal Heart	heart
28	chr3:100058000-100069600	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr3:100058000-100069600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr3:100058000-100069600	Strong transcription	Skeletal Muscle Female	skeletal muscle
31	chr3:100058200-100069600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr3:100058200-100069600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr3:100059200-100067600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr3:100059400-100069600	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr3:100060000-100069600	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr3:100060200-100067800	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr3:100060200-100068400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr3:100060200-100069600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr3:100061000-100067000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr3:100061000-100068600	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr3:100061000-100069000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr3:100061000-100069600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr3:100061000-100069600	Strong transcription	Liver	Liver
44	chr3:100061200-100066800	Weak transcription	Fetal Brain Female	brain
45	chr3:100061200-100067200	Weak transcription	Brain Germinal Matrix	brain
46	chr3:100061200-100068600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr3:100061200-100069200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr3:100061400-100069000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr3:100062600-100067200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr3:100062600-100069000	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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