Variant report

Variant	rs11668644
Chromosome Location	chr19:41316746-41316747
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:41222253..41224407-chr19:41315424..41318276,2	K562	blood:
2	chr19:41221999..41223753-chr19:41315424..41317151,2	K562	blood:
3	chr19:41220720..41224635-chr19:41312175..41316788,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000086544	Chromatin interaction
ENSG00000123815	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs2644916	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833832	chr19:41260363-41334597	Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv2758500	chr19:41291627-41546068	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	esv2758762	chr19:41291627-41546068	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1066637	chr19:41309211-41597896	Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv521459	chr19:41313202-41333284	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41306400-41316800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr19:41315000-41324400	Weak transcription	HepG2	liver
3	chr19:41315000-41332600	Weak transcription	Aorta	Aorta
4	chr19:41315400-41317400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr19:41315600-41316800	Flanking Active TSS	Adipose Nuclei	Adipose
6	chr19:41315800-41316800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr19:41315800-41317000	Enhancers	Liver	Liver
8	chr19:41315800-41318000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
9	chr19:41315800-41318400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr19:41316000-41316800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr19:41316000-41317000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr19:41316000-41317200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
13	chr19:41316000-41319400	Enhancers	Spleen	Spleen
14	chr19:41316000-41319800	Enhancers	Fetal Heart	heart
15	chr19:41316200-41316800	Flanking Active TSS	Fetal Muscle Trunk	muscle
16	chr19:41316200-41317000	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr19:41316200-41317200	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr19:41316200-41317200	Weak transcription	Lung	lung
19	chr19:41316200-41317200	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr19:41316200-41317200	Active TSS	Rectal Mucosa Donor 31	rectum
21	chr19:41316200-41317200	Flanking Active TSS	HUVEC	blood vessel
22	chr19:41316200-41317200	Flanking Active TSS	NH-A	brain
23	chr19:41316200-41317400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr19:41316200-41317400	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr19:41316200-41317400	Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr19:41316200-41317400	Flanking Active TSS	Placenta	Placenta
27	chr19:41316200-41317600	Enhancers	NHDF-Ad	bronchial
28	chr19:41316200-41317800	Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr19:41316200-41317800	Enhancers	Stomach Mucosa	stomach
30	chr19:41316200-41318000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
31	chr19:41316200-41318000	Active TSS	Right Atrium	heart
32	chr19:41316200-41318200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr19:41316200-41318200	Active TSS	H9 Cell Line	embryonic stem cell
34	chr19:41316200-41318200	Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr19:41316200-41318200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr19:41316200-41318400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr19:41316200-41318400	Active TSS	Brain Angular Gyrus	brain
38	chr19:41316200-41324400	Weak transcription	Gastric	stomach
39	chr19:41316400-41316800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr19:41316400-41316800	Flanking Active TSS	Stomach Smooth Muscle	stomach
41	chr19:41316400-41317000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr19:41316400-41317000	Active TSS	Esophagus	oesophagus
43	chr19:41316400-41317000	Active TSS	Pancreas	Pancrea
44	chr19:41316400-41317000	Active TSS	Sigmoid Colon	Sigmoid Colon
45	chr19:41316400-41317000	Active TSS	NHLF	lung
46	chr19:41316400-41317200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr19:41316400-41317200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr19:41316400-41317200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr19:41316400-41317200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr19:41316400-41317200	Active TSS	Brain Cingulate Gyrus	brain

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