Variant report

Variant	rs1404184
Chromosome Location	chr2:149268503-149268504
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:148685824..148687356-chr2:149266124..149268743,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10928398	0.82[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];0.84[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.88[TSI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12619515	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12620213	0.92[JPT][hapmap]
rs13032758	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1404183	0.94[CHD][hapmap];0.90[GIH][hapmap];0.92[JPT][hapmap];0.84[ASN][1000 genomes]
rs16828672	0.92[JPT][hapmap]
rs16828691	0.91[CHD][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs16828693	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73003524	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2753542	chr2:149004714-149268503	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1012275	chr2:149031668-149316793	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv2751831	chr2:149151358-150105603	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1000101	chr2:149165813-149361220	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv868861	chr2:149198443-149434604	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv917109	chr2:149198443-149948302	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
7	nsv1004663	chr2:149214090-149373061	Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	esv2762913	chr2:149249683-149345487	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1404184	TGFBI	trans	brain	seeQTL

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:149247600-149291000	Weak transcription	Spleen	Spleen
2	chr2:149248800-149269600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr2:149248800-149276800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:149248800-149284600	Weak transcription	Lung	lung
5	chr2:149261600-149279200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:149267000-149286200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr2:149267200-149270000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr2:149267200-149272000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr2:149267200-149272200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr2:149267200-149272200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr2:149267200-149273600	Weak transcription	Fetal Lung	lung
12	chr2:149267200-149273600	Weak transcription	NH-A	brain
13	chr2:149267200-149275800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr2:149267200-149277200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr2:149267200-149278200	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr2:149267200-149280200	Weak transcription	Thymus	Thymus
17	chr2:149267200-149280400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr2:149267200-149281600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr2:149267200-149282600	Weak transcription	Fetal Kidney	kidney
20	chr2:149267200-149282800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr2:149267200-149285400	Weak transcription	GM12878-XiMat	blood
22	chr2:149267200-149285600	Weak transcription	HSMMtube	muscle
23	chr2:149267400-149268600	Weak transcription	Fetal Stomach	stomach
24	chr2:149267400-149270000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr2:149267400-149272000	Weak transcription	Left Ventricle	heart
26	chr2:149267400-149272000	Weak transcription	Pancreas	Pancrea
27	chr2:149267400-149272200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:149267400-149272400	Weak transcription	Fetal Thymus	thymus
29	chr2:149267400-149272600	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr2:149267400-149273800	Weak transcription	Brain Hippocampus Middle	brain
31	chr2:149267400-149275000	Weak transcription	Gastric	stomach
32	chr2:149267400-149276600	Weak transcription	Fetal Intestine Large	intestine
33	chr2:149267400-149277200	Weak transcription	Duodenum Mucosa	Duodenum
34	chr2:149267400-149278600	Weak transcription	Ovary	ovary
35	chr2:149267400-149278800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr2:149267400-149278800	Weak transcription	HSMM	muscle
37	chr2:149267400-149279000	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr2:149267400-149279400	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr2:149267400-149281200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr2:149267400-149281400	Weak transcription	Primary hematopoietic stem cells	blood
41	chr2:149267400-149281400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:149267400-149282000	Weak transcription	Brain Angular Gyrus	brain
43	chr2:149267400-149282200	Weak transcription	Rectal Smooth Muscle	rectum
44	chr2:149267400-149285200	Weak transcription	Fetal Muscle Leg	muscle
45	chr2:149267400-149288400	Weak transcription	Fetal Brain Female	brain
46	chr2:149267400-149288800	Weak transcription	Right Ventricle	heart
47	chr2:149267600-149268600	Weak transcription	Aorta	Aorta
48	chr2:149267600-149268800	Weak transcription	Liver	Liver
49	chr2:149267600-149269800	Weak transcription	Adipose Nuclei	Adipose
50	chr2:149267600-149270200	Weak transcription	Fetal Heart	heart

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