Variant report

Variant	rs4859622
Chromosome Location	chr4:77079086-77079087
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:77067214..77072530-chr4:77074887..77081962,12	K562	blood:
2	chr4:77068526..77071865-chr4:77074983..77079477,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138750	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10022137	0.84[ASN][1000 genomes]
rs10022519	0.84[ASN][1000 genomes]
rs10030683	0.90[AMR][1000 genomes]
rs11097232	0.84[ASN][1000 genomes]
rs12331521	0.84[ASN][1000 genomes]
rs12508223	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4241591	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4440243	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4624679	0.92[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4859619	0.92[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6532181	0.88[AMR][1000 genomes]
rs6532230	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6857166	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7654988	0.84[ASN][1000 genomes]
rs7697711	0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs9990550	0.84[ASN][1000 genomes]
rs9992976	0.84[ASN][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	nsv529613	chr4:76654941-77081576	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv470047	chr4:77033590-77096777	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv594693	chr4:77033590-77101068	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv461558	chr4:77033725-77115553	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv594694	chr4:77033725-77115553	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv1008318	chr4:77042356-77095658	Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv537144	chr4:77042356-77095658	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
8	nsv1000539	chr4:77042356-77105492	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
9	nsv1000178	chr4:77053046-77113080	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4859622	NAAA	cis	Thyroid	GTEx

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:77070000-77082600	Weak transcription	Spleen	Spleen
2	chr4:77070200-77081000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr4:77070200-77082200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr4:77070200-77082400	Weak transcription	Small Intestine	intestine
5	chr4:77070200-77082600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:77070200-77082600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr4:77070200-77082600	Weak transcription	Gastric	stomach
8	chr4:77070200-77082800	Weak transcription	Lung	lung
9	chr4:77070400-77079400	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr4:77070400-77081600	Weak transcription	Left Ventricle	heart
11	chr4:77070400-77082000	Weak transcription	Primary B cells from cord blood	blood
12	chr4:77070400-77082200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr4:77070400-77082200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr4:77070400-77082600	Weak transcription	Aorta	Aorta
15	chr4:77070400-77093400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr4:77070600-77079400	Weak transcription	Fetal Muscle Trunk	muscle
17	chr4:77070600-77079400	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr4:77070600-77079600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr4:77070600-77079600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr4:77070600-77081400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr4:77070600-77081600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr4:77070600-77081600	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr4:77070600-77082200	Weak transcription	Primary T cells from cord blood	blood
24	chr4:77070600-77082400	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr4:77070600-77083800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr4:77070600-77113600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr4:77070800-77079400	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr4:77070800-77079600	Weak transcription	Duodenum Mucosa	Duodenum
29	chr4:77070800-77079600	Weak transcription	Fetal Brain Female	brain
30	chr4:77070800-77079600	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr4:77070800-77080000	Weak transcription	Stomach Smooth Muscle	stomach
32	chr4:77070800-77080800	Weak transcription	NHDF-Ad	bronchial
33	chr4:77070800-77081400	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr4:77070800-77081400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr4:77070800-77082000	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr4:77070800-77082200	Weak transcription	Fetal Brain Male	brain
37	chr4:77070800-77082400	Weak transcription	NH-A	brain
38	chr4:77070800-77082600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr4:77070800-77082600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr4:77070800-77082600	Weak transcription	A549	lung
41	chr4:77070800-77083000	Weak transcription	Colonic Mucosa	Colon
42	chr4:77070800-77083800	Weak transcription	Fetal Kidney	kidney
43	chr4:77070800-77088400	Weak transcription	Stomach Mucosa	stomach
44	chr4:77070800-77093800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr4:77071000-77079200	Weak transcription	Liver	Liver
46	chr4:77071000-77079200	Weak transcription	Brain Germinal Matrix	brain
47	chr4:77071000-77079400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr4:77071000-77079400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr4:77071000-77079600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr4:77071000-77079800	Weak transcription	NHLF	lung

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