Variant report

Variant	rs73890648
Chromosome Location	chr3:194790585-194790586
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:194789447..194796347-chr3:194796697..194800807,6	K562	blood:
2	chr3:194784787..194787485-chr3:194789648..194792559,2	K562	blood:
3	chr3:194624572..194626596-chr3:194788748..194791365,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs56386553	1.00[AMR][1000 genomes]
rs61422283	1.00[AMR][1000 genomes]
rs6773392	1.00[AMR][1000 genomes]
rs6789088	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6806859	1.00[AMR][1000 genomes]
rs6809483	1.00[AMR][1000 genomes]
rs73067087	1.00[AMR][1000 genomes]
rs73890627	1.00[AMR][1000 genomes]
rs73890636	1.00[AMR][1000 genomes]
rs73890650	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73890665	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73890666	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73890713	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007697	chr3:194554814-195009930	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv536873	chr3:194554814-195009930	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription 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	28 gene(s)	inside rSNPs	diseases
3	nsv997779	chr3:194687093-194885936	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv536874	chr3:194687093-194885936	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1009796	chr3:194737333-195124248	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
6	esv1813153	chr3:194754532-194851746	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	esv1847174	chr3:194763601-194792415	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv878136	chr3:194779412-194845226	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	esv1848714	chr3:194785443-194792415	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:194779000-194808000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr3:194780200-194800000	Weak transcription	Right Atrium	heart
3	chr3:194781000-194808000	Weak transcription	Colonic Mucosa	Colon
4	chr3:194783600-194801400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr3:194784000-194797800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:194784200-194797400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr3:194785200-194796600	Weak transcription	NHLF	lung
8	chr3:194785400-194793400	Weak transcription	Left Ventricle	heart
9	chr3:194785400-194799200	Weak transcription	Pancreas	Pancrea
10	chr3:194785600-194791000	Weak transcription	Small Intestine	intestine
11	chr3:194785600-194792400	Weak transcription	Right Ventricle	heart
12	chr3:194785600-194801400	Weak transcription	Fetal Lung	lung
13	chr3:194785600-194801600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr3:194785600-194802000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr3:194786000-194790600	Weak transcription	Stomach Mucosa	stomach
16	chr3:194786000-194791000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr3:194786000-194791000	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr3:194786000-194796600	Weak transcription	Primary B cells from cord blood	blood
19	chr3:194786000-194800400	Weak transcription	GM12878-XiMat	blood
20	chr3:194786800-194790600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr3:194786800-194791000	Weak transcription	Osteobl	bone
22	chr3:194787200-194800000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr3:194787400-194791000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr3:194787400-194791600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr3:194787400-194793800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr3:194787400-194795200	Strong transcription	Fetal Stomach	stomach
27	chr3:194787600-194790600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr3:194787600-194792600	Weak transcription	Brain Angular Gyrus	brain
29	chr3:194787600-194801000	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr3:194787800-194790600	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr3:194787800-194790600	Weak transcription	Fetal Intestine Large	intestine
32	chr3:194787800-194792200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr3:194787800-194794000	Weak transcription	Primary B cells from peripheral blood	blood
34	chr3:194788000-194790600	Strong transcription	Fetal Thymus	thymus
35	chr3:194788000-194791000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr3:194788200-194790600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr3:194788200-194790600	Strong transcription	Fetal Intestine Small	intestine
38	chr3:194788200-194790800	Strong transcription	Gastric	stomach
39	chr3:194788200-194791600	Weak transcription	Brain Substantia Nigra	brain
40	chr3:194788400-194790600	Strong transcription	Primary T cells from cord blood	blood
41	chr3:194788400-194790800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr3:194788600-194790600	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr3:194788600-194790600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr3:194788600-194790600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr3:194788600-194790600	Strong transcription	Adipose Nuclei	Adipose
46	chr3:194788600-194790600	Strong transcription	Brain Cingulate Gyrus	brain
47	chr3:194788600-194790600	Strong transcription	Placenta	Placenta
48	chr3:194788600-194790600	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr3:194788600-194790600	Strong transcription	Dnd41	blood
50	chr3:194788600-194790800	Strong transcription	HUES48 Cell Line	embryonic stem cell

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