Variant report

Variant	rs73191098
Chromosome Location	chr2:11970360-11970361
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:11964399..11966822-chr2:11968206..11970733,4	K562	blood:
2	chr2:11967833..11971284-chr2:12088713..12091572,3	K562	blood:
3	chr2:11969521..11971047-chr2:12855197..12857650,2	K562	blood:
4	chr1:147806128..147806863-chr2:11970014..11970566,2	Hela-S3	cervix:
5	chr2:11968995..11970591-chr2:13111840..13113656,2	K562	blood:
6	chr2:11967830..11972620-chr2:11972845..11976949,6	K562	blood:
7	chr2:11969539..11970569-chr2:12091389..12092089,3	K562	blood:
8	chr2:11967830..11971091-chr2:11972845..11976949,4	K562	blood:
9	chr2:11969158..11971628-chr2:12069780..12071377,2	K562	blood:
10	chr2:11969272..11970434-chr2:13146441..13147695,6	K562	blood:
11	chr2:11963181..11965215-chr2:11970246..11972113,2	K562	blood:
12	chr2:11964536..11966144-chr2:11966996..11970850,3	MCF-7	breast:
13	chr2:11969773..11970746-chr2:12855901..12856661,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000261117	Chromatin interaction
ENSG00000225649	Chromatin interaction
ENSG00000134324	Chromatin interaction
ENSG00000071575	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1370547	0.93[AFR][1000 genomes]
rs59466442	0.83[AFR][1000 genomes]
rs60665865	0.89[AFR][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	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
4	nsv833403	chr2:11944552-12125634	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11965800-11970400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:11969000-11970600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:11969000-11972000	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr2:11969200-11970400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:11969200-11970400	Enhancers	Fetal Brain Male	brain
6	chr2:11969200-11970400	Enhancers	Fetal Muscle Leg	muscle
7	chr2:11969200-11970400	Enhancers	Small Intestine	intestine
8	chr2:11969200-11970400	Enhancers	Spleen	Spleen
9	chr2:11969200-11970600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:11969200-11970600	Enhancers	Pancreas	Pancrea
11	chr2:11969200-11970800	Enhancers	H1 Cell Line	embryonic stem cell
12	chr2:11969200-11970800	Enhancers	Right Ventricle	heart
13	chr2:11969200-11971000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr2:11969200-11971000	Enhancers	Placenta	Placenta
15	chr2:11969200-11971000	Flanking Active TSS	GM12878-XiMat	blood
16	chr2:11969400-11970400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr2:11969400-11970600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr2:11969400-11970800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
19	chr2:11969400-11971000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:11969400-11971000	Flanking Active TSS	Adipose Nuclei	Adipose
21	chr2:11969400-11971000	Flanking Active TSS	Hela-S3	cervix
22	chr2:11969400-11971200	Enhancers	Placenta Amnion	Placenta Amnion
23	chr2:11969400-11971200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr2:11969400-11971400	Enhancers	Fetal Heart	heart
25	chr2:11969600-11970400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:11969600-11970400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
27	chr2:11969600-11970400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr2:11969600-11970400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
29	chr2:11969600-11970400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:11969600-11970400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr2:11969600-11970400	Enhancers	Left Ventricle	heart
32	chr2:11969600-11970400	Enhancers	Lung	lung
33	chr2:11969600-11970400	Flanking Bivalent TSS/Enh	HepG2	liver
34	chr2:11969600-11970400	Flanking Active TSS	NHLF	lung
35	chr2:11969600-11970600	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr2:11969600-11970600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr2:11969600-11970600	Flanking Active TSS	Brain Hippocampus Middle	brain
38	chr2:11969600-11970600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
39	chr2:11969600-11970600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
40	chr2:11969600-11970600	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr2:11969600-11970600	Flanking Active TSS	Stomach Smooth Muscle	stomach
42	chr2:11969600-11970800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
43	chr2:11969600-11970800	Flanking Active TSS	Liver	Liver
44	chr2:11969600-11970800	Flanking Active TSS	Duodenum Mucosa	Duodenum
45	chr2:11969600-11971000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr2:11969600-11971000	Flanking Active TSS	Primary B cells from cord blood	blood
47	chr2:11969600-11971000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
48	chr2:11969600-11971000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr2:11969600-11971000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
50	chr2:11969600-11971000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--

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