Variant report

Variant	rs11164849
Chromosome Location	chr1:93424688-93424689
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:93409434..93411659-chr1:93423338..93426325,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10874752	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11164838	0.81[ASN][1000 genomes]
rs11164848	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12092304	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12747275	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4847386	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4847389	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs514235	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs521428	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs606344	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs619784	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs641462	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs660870	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6671078	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6671268	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6681240	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6681345	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs753391	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs770884	0.84[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93409600-93426000	Weak transcription	Lung	lung
2	chr1:93410600-93425600	Weak transcription	Aorta	Aorta
3	chr1:93410600-93425800	Weak transcription	Right Atrium	heart
4	chr1:93410600-93426000	Weak transcription	Left Ventricle	heart
5	chr1:93411000-93425800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr1:93413600-93425600	Enhancers	Primary B cells from peripheral blood	blood
7	chr1:93415200-93425600	Enhancers	Primary T cells from cord blood	blood
8	chr1:93415200-93425600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr1:93415200-93425600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr1:93415200-93425600	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr1:93417000-93425400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:93417000-93425600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:93417000-93425600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:93417000-93425800	Weak transcription	Right Ventricle	heart
15	chr1:93417200-93425800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr1:93417600-93425600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr1:93417600-93425600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:93417800-93425600	Weak transcription	NHLF	lung
19	chr1:93418000-93425600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr1:93418200-93425800	Weak transcription	Psoas Muscle	Psoas
21	chr1:93419200-93425600	Enhancers	Primary B cells from cord blood	blood
22	chr1:93419400-93425600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:93420000-93425600	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr1:93421200-93425600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr1:93421400-93424800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr1:93421600-93425600	Enhancers	Dnd41	blood
27	chr1:93421800-93425000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr1:93422000-93425200	Enhancers	Liver	Liver
29	chr1:93422000-93425800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:93422200-93424800	Enhancers	Fetal Intestine Large	intestine
31	chr1:93422400-93425600	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr1:93422400-93425600	Weak transcription	Fetal Brain Male	brain
33	chr1:93422400-93425600	Enhancers	Fetal Heart	heart
34	chr1:93422400-93425600	Weak transcription	Fetal Kidney	kidney
35	chr1:93422600-93424800	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr1:93422600-93425000	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr1:93422800-93425600	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr1:93422800-93425600	Weak transcription	Adipose Nuclei	Adipose
39	chr1:93422800-93425600	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr1:93422800-93425800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr1:93423200-93425400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
42	chr1:93423200-93425600	Weak transcription	Fetal Lung	lung
43	chr1:93423200-93425600	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr1:93423200-93425600	Weak transcription	Small Intestine	intestine
45	chr1:93423200-93425600	Weak transcription	Stomach Mucosa	stomach
46	chr1:93423200-93425600	Weak transcription	HSMMtube	muscle
47	chr1:93423200-93425800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr1:93423200-93425800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr1:93423200-93426200	Weak transcription	Gastric	stomach
50	chr1:93423200-93426200	Weak transcription	Spleen	Spleen

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