Variant report

Variant	rs11676438
Chromosome Location	chr2:172826668-172826669
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:172825003..172826821-chr2:172828092..172830366,2	K562	blood:
2	chr2:172824513..172827435-chr2:172859030..172861572,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs35468668	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4280428	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4581870	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55653103	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs62182403	0.88[AMR][1000 genomes]
rs62182436	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62183766	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62183769	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62183770	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62183782	0.84[AMR][1000 genomes]
rs62183784	0.84[AMR][1000 genomes]
rs62183785	0.84[AMR][1000 genomes]
rs62183800	0.82[AMR][1000 genomes]
rs62183801	0.84[AMR][1000 genomes]
rs6718013	0.84[AMR][1000 genomes]
rs6729945	0.82[AMR][1000 genomes]
rs6730085	0.86[AMR][1000 genomes]
rs6733794	0.83[AMR][1000 genomes]
rs6746701	0.82[AMR][1000 genomes]
rs7557612	0.82[AMR][1000 genomes]
rs7584187	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875410	chr2:172693780-172896587	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv875411	chr2:172693780-172942448	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv2830399	chr2:172781830-172952526	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11676438	AC068039.4	cis	Thyroid	GTEx
rs11676438	AC068039.4	cis	Muscle Skeletal	GTEx

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172779800-172828400	Weak transcription	Aorta	Aorta
2	chr2:172780000-172829000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:172780200-172840400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:172780400-172848800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:172780600-172847400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr2:172780600-172854200	Weak transcription	Small Intestine	intestine
7	chr2:172783600-172851000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr2:172796000-172855200	Weak transcription	Gastric	stomach
9	chr2:172796800-172832200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr2:172807400-172845400	Weak transcription	Spleen	Spleen
11	chr2:172808000-172847200	Weak transcription	Fetal Brain Female	brain
12	chr2:172808000-172849400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr2:172809800-172837800	Weak transcription	Esophagus	oesophagus
14	chr2:172810000-172862600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:172811400-172846200	Weak transcription	Brain Substantia Nigra	brain
16	chr2:172811800-172852200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr2:172811800-172855600	Weak transcription	Fetal Heart	heart
18	chr2:172812400-172845200	Weak transcription	Colonic Mucosa	Colon
19	chr2:172813000-172859200	Weak transcription	Fetal Brain Male	brain
20	chr2:172814000-172844400	Weak transcription	Pancreas	Pancrea
21	chr2:172815200-172828400	Weak transcription	Lung	lung
22	chr2:172815200-172835800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:172815400-172850000	Weak transcription	HSMMtube	muscle
24	chr2:172815600-172827800	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr2:172816800-172844200	Weak transcription	NHLF	lung
26	chr2:172817800-172833800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:172817800-172833800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr2:172817800-172845200	Weak transcription	Psoas Muscle	Psoas
29	chr2:172820600-172828200	Strong transcription	K562	blood
30	chr2:172821000-172838600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr2:172821000-172862800	Weak transcription	Brain Angular Gyrus	brain
32	chr2:172821400-172828200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr2:172821400-172835000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr2:172821600-172827800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr2:172821800-172828600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr2:172821800-172831200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr2:172822000-172833800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:172822000-172835800	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr2:172822200-172826800	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr2:172822200-172826800	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr2:172822200-172826800	Strong transcription	Primary B cells from cord blood	blood
42	chr2:172822200-172830600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr2:172822400-172826800	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr2:172822400-172828200	Strong transcription	GM12878-XiMat	blood
45	chr2:172822600-172833800	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr2:172822800-172835000	Strong transcription	Dnd41	blood
47	chr2:172823000-172827200	Weak transcription	Thymus	Thymus
48	chr2:172823000-172827400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr2:172823000-172828200	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr2:172823000-172833600	Weak transcription	Left Ventricle	heart

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